MANUSCRITOS EN PUBMED

FIRMADOS COMO MJ TRUJILLO TIEBAS

• Nerea Carvajal, Mónica Martínez-García, Monica Chayogen, Nieves Morcillo, Ana Pino, I. Lorda; María José Trujillo-Tiebas. Clinical, genetics and bioinformatics characterization of a Campomelic dysplasia case report. (2015). En Revision
• Ortiz NV, Trujillo-Tiebas MJ, Rodríguez de Alba M, Blanco-Kelly F, Soriano-Guillén L, Lorda-Sánchez, I. Defectos en extremidades, facies peculiar y fallo de medro no son siempre Síndrome de Cornelia de Lange. Limbs defects, peculiar face and failure to thrive is not always Cornelia de Lange Syndrome. Aceptado en Actapediatrica.
• Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ. Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. J Bone Miner Metab. (2015) Aug 15.
• M. Martinez-Garcia, E. Gavin, J. Plaza, A. Perez-Aytes, P. Marin-Reina, I. Lorda-Sanchez, C. Ramos, M.J. Trujillo-Tiebas. Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos. Clínica e Investigación en Ginecología y Obstetricia. doi:10.1016/j.gine.2015.03.004
• Fenollar-Cortés M, Lara-Orejas E, González-Meneses A, Ruibal-Francisco JL, Trujillo-Tiebas MJ. Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases. An Pediatr (Barc). 2015 Jan 20.
• Sanchez-Jimeno C, Bustamante-Aragonés A, Infantes-Barbero F, Rodriguez De Alba M, Ramos C, Trujillo-Tiebas MJ, Lorda-Sánchez I. Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA. Clin Case Rep. 2014 Dec;2(6):303-9.
• Perlado-Marina S, Bustamante-Aragones A, Horcajada L, Trujillo-Tiebas MJ, Lorda-Sanchez I, Ruiz Ramos M, Plaza J, Rodriguez de Alba R. Overview on five-year experience performing first trimester non-invasive fetal sex assessment in maternal blood. Diagnostics 2013, 3, 283-290.
• Fernandez-San Jose P, Blanco-Kelly F, Corton M, Trujillo-Tiebas MJ, Gimenez A, Avila-Fernandez A, Garcia-Sandoval B, Lopez-Molina MI, Hernan I, Carballo M, Riveiro-Alvarez R, Ayuso C.
• Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families. Acta Ophthalmol. 2014 Nov 18. doi: 10.1111/aos.12486.
• García MM, Velez C, Fenollar-Cortés M, Bustamante A, Lorda-Sanchez I, Soriano-Guillén L, Trujillo-Tiebas MJ. Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia. Am J Med Genet A. 2014 Jan 23. doi: 10.1002/ajmg.a.36378.
• Milá M, Ramos F, Tejada MI; Grupo AEGH/CIBERER. Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome. Med Clin (Barc). 2014 Mar 4;142(5):219-25.
• Comparison of High-Resolution Melting Analysis with denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 gene. Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
  IOVS - Decision on Manuscript ID IOVS-09-4518.R1
• Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : Prenatal diagnosis in FGFR3 gene.
  Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C.
  J Assist Reprod Genet. 2009 Sep 30.
  PMID: 19789973
• Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
  Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2009 Aug;126(2):341.
  PMID: 19694024
• Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
  Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
  Hum Genet. 2009 Aug;126(2):335.
  PMID: 19694005
• Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
  Garcia M, Escamez MJ, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
  Hum Genet. 2009 Aug;126(2):334-5.
  PMID: 19694004
• Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
  Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.
  Hum Genet. 2009 Aug;126(2):334.
  PMID: 19694003
• Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2009 Aug;126(2):330.
  PMID: 19693992
• Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
  Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C.
  Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. Epub 2009 Mar 25.
  PMID: 19324861
• Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.
  Martinez-Garcia M, Trujillo-Tiebas MJ, Villaverde C, López-Martínez MA, Ayuso C.
  Hum Genet. 2009 Apr;125(3):349.
  PMID: 19320034
• Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
  Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2009 Apr;125(3):349.
  PMID: 19320033
• Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.
  Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, Rodriguez de Alba M, Gonzalez-Gonzalez C, Cantalapiedra D, Ayuso C, Ramos C.
  Eur J Neurol. 2008 Dec;15(12):1338-44.
  PMID: 19049551
  
  
• Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
  Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
  Br J Ophthalmol. 2009 May;93(5):614-21. Epub 2008 Nov 21.
  PMID: 19028736
• Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
  Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C.
  Br J Ophthalmol. 2009 Oct;93(10):1359-64. Epub 2008 Oct 31.
  PMID: 18977788
• Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
  González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C.
  J Assist Reprod Genet. 2008 Sep-Oct;25(9-10):477-81. Epub 2008 Oct 14.
  PMID: 18853247
• Gene symbol: ABCA4. Disease: Macular dystrophy.
  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Oct;124(3):321.
  PMID: 18846678
• Gene symbol: ABCA4. Disease: Macular dystrophy.
  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Oct;124(3):319.
  PMID: 18846675
• Gene symbol: ABCA4. Disease: Macular dystrophy.
  Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Oct;124(3):314
  PMID: 18846660
• Gene symbol: NDP. Disease: Norrie disease.
  Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Oct;124(3):308.
  PMID: 18846645
• Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.
  Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Ayuso C.
  Hum Genet. 2008 Oct;124(3):307-8.
  PMID: 18846643 [
• Gene symbol: RPGR. Disease: Retinitis Pigmentosa.
  Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, Ayuso C.
  Hum Genet. 2008 Oct;124(3):303.
  PMID: 18846630
• Gene symbol: CHM. Disease: Choroideraemia.
  Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, Ayuso C.
  Hum Genet. 2008 Oct;124(3):302. No abstract available.
  PMID: 18846629
• Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
  Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C.
  Mol Vis. 2008 Aug 4;
• 1388-94.
  PMID: 18682814
• New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.
  Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C.
  J Cyst Fibros. 2008 Nov;7(6):505-10. Epub 2008 Jun 24.
  PMID: 18573697
• CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
  Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
  Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2709-13.
  PMID: 18515597
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):112.
  PMID: 18386373
• Gene symbol: ABCA4. Disease: Macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):112.
  PMID: 18386369
• Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
  Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Sep;122(2):212..
  PMID: 18386368
• Gene symbol: ABCA4. Disease: Macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):111
  PMID: 18386365
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):111.
  PMID: 18386364
• Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
  Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Sep;122(2):211.
  PMID: 18386363
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):111.
  PMID: 18386360
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):110-1.
  PMID: 18386356
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):110.
  PMID: 18386355 [
• Gene symbol: BEST1. Disease: Best macular dystrophy.
  Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2008 Feb;123(1):110.
  PMID: 18386350
• Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.
  Villaverde C, Trujillo-Tiebas MJ, Gallego-Merlo J, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Carballo M, Ayuso C.
  Hum Genet. 2007 Dec;122(5):555.
  PMID: 18383606
• Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
  Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Dec;122(5):548.
  PMID: 18380025
• Two non-contiguous duplications in the DMD gene in a Spanish family.
  Fenollar-Cortés M, Gallego-Merlo J, Trujillo-Tiebas MJ, Lorda-Sánchez I, Ayuso C.
  J Neurogenet. 2008 Jan-Mar;22(1):93-101.
  PMID: 18363165
• Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
  Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
  Mol Vis. 2008 Feb 4;
• 262-7.
  PMID: 18334942
• Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.
  Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, Plaza J, Ayuso C, Ramos C.
  Haemophilia. 2008 May;14(3):593-8. Epub 2008 Mar 4.
  PMID: 18328062
• Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
  Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.
  Mol Vis. 2007 Nov 27;
• 2160-2.
  PMID: 18079693
• Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
  Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
  Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61.
  PMID: 18055816
• Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.
  Trujillo-Tiebas MJ, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa JM, Ayuso García C.
  Hum Genet. 2007 Jun;121(5):651.
  PMID: 17879451
• Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.
  Avila-Fernandez A, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Jun;121(5):650-1.
  PMID: 17879450
• Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
  Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Narvaiza RC, Perez N, Garcia-Sandoval B, Ayuso C.
  Hum Genet. 2007 Jun;121(5):648..
  PMID: 17879444
• Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
  Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C.
  Hum Genet. 2007 Jun;121(5):648.
  PMID: 17879443
• Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Trujillo-Tiebas MJ, Villaverde C, Ayuso C.
  Hum Genet. 2007 Jun;121(5):648..
  PMID: 17879441
• Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Villaverde C, Ayuso C.
  Hum Genet. 2007 Jun;121(5):647.
  PMID: 17879437
• Gene symbol: CRB1.
  Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Gimenez-Pardo A, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Apr;121(2):297-8.
  PMID: 17598245
• Gene symbol: EPM2A.
  Trujillo-Tiebas MJ, Gómez-Garré P, Pérez-González N, Lorda-Sánchez I, Serratosa JM, Ayuso C.
  Hum Genet. 2007 Apr;121(2):290.
  PMID: 17598230
• Gene symbol: EPM2A.
  Trujillo-Tiebas MJ, Gómez-garré P, Arguirre-Lambán J, Lorda-Sánchez I, Serratosa JM, Ayuso C.
  Hum Genet. 2007 Apr;121(2):289-90.
  PMID: 17598229
• Gene symbol: EPM2A.
  Trujillo-Tiebas MJ, Gómez-Garré P, Fenolla-Cortés M, Lorda-Sánchez I, Serratosa JM, Ayuso C.
  Hum Genet. 2007 Apr;121(2):289.
  PMID: 17598204
• Gene symbol: RP2.
  Villaverde-Montero C, García-Hoyos M, Giménez-Pardo A, Trujillo-Tiebas MJ, Baiget M, Ayuso C.
  Hum Genet. 2007 Apr;121(2):289.
  PMID: 17598203 [
• Gene symbol: CRB1.
  Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Martinez MA, Gallego-Merlo J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Apr;121(2):287-8
  PMID: 17598198
• Gene symbol: CRB1.
  Vallespin E, Millan JM, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Gallego J, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2007 Feb;120(6):914.
  PMID: 17438615
• Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0540.
  Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Queipo A, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2006 Feb;118(6):778.
  PMID: 17297695
• Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534.
  Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2006 Feb;118(6):777.
  PMID: 17297689
• Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.
  Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2006 Feb;118(6):774
  PMID: 17297678
• Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
  Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.
  Mol Vis. 2007 Jan 26;
• 96-101.
  PMID: 17277736
• Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
  Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C.
  Hum Genet. 2006 Jul;119(6):681
  PMID: 17128490
• Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.
  Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, Trujillo-Tiebas MJ, Ayuso C, Ramos C.
  Ann N Y Acad Sci. 2006 Sep;
• 108-17.
  PMID: 17108199
• Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
  García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
  Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82.
  PMID: 16936086
• Prenatal diagnosis of 46, XX male fetus.
  Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C.
  J Assist Reprod Genet. 2006 May;23(5):253-4. Epub 2006 May 25.
  PMID: 16724267 [
• Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.
  Hum Genet. 2005 Dec;118(3-4):536.
  PMID: 16521246
• Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.
  Hum Genet. 2005 Dec;118(3-4):536.
  PMID: 16521245
• Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.
  Hum Genet. 2005 Dec;118(3-4):535.
  PMID: 16521244
• Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.
  Hum Genet. 2005 Dec;118(3-4):535.
  PMID: 16521243
• Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
  Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyas M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.
  Hum Genet. 2005 Dec;118(3-4):534.
  PMID: 16521240
• New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.
  García-Hoyos M, Sanz R, Diego-Alvarez D, Lorda-Sánchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Ramos C, Ayuso C.
  Am J Med Genet A. 2005 Nov 1;138(4):365-8.
  PMID: 16222660 [
• Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
  Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C.
  Mol Vis. 2005 Sep 2;
• 705-12.
  PMID: 16163268
• Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.
  González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, Gallego J, Diaz-Recasens J, Ayuso C, Ramos C.
  J Histochem Cytochem. 2005 Mar;53(3):307-14.
  PMID: 15750008
• Gene symbol: CFTR. Disease: Cystic fibrosis.
  Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C.
  Hum Genet. 2004 Mar;114(4):403.
  PMID: 15046061
• [Spinocerebellar ataxia type
• the case of a Spanish family]
  Mayo-Cabrero D, Sánchez-Migallón M, Cantarero S, García-Ruiz Espiga PJ, Giménez-Pardo A, Trujillo-Tiebas M, Ayuso-García C.
  Rev Neurol. 2002 Sep 1-15;35(5):442-5. Spanish.
  PMID: 12373678
• [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene]
  Trujillo Tiebas MJ, Giménez Pardo A, García Sandoval B, Ayuso García C.
  Med Clin (Barc). 2002 May 18;118(18):716. Spanish.
  PMID: 12042139

FIRMADOS COMO MJ TRUJILLO TIEBAS

• Comparison of High-Resolution Melting Analysis with denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 gene. Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. IOVS - Decision on Manuscript ID IOVS-09-4518.R1
• 1: Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : Prenatal diagnosis in FGFR3 gene. Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C. J Assist Reprod Genet. 2009 Sep 30. PMID: 19789973
• 2: Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2009 Aug;126(2):341. PMID: 19694024
• 3: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M. Hum Genet. 2009 Aug;126(2):335. PMID: 19694005
• 4: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Garcia M, Escamez MJ, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M. Hum Genet. 2009 Aug;126(2):334-5. PMID: 19694004
• 5: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M. Hum Genet. 2009 Aug;126(2):334. PMID: 19694003
• 6: Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy. Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2009 Aug;126(2):330. PMID: 19693992
• 7: Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. Epub 2009 Mar 25. PMID: 19324861
• 8: Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular. Martinez-Garcia M, Trujillo-Tiebas MJ, Villaverde C, López-Martínez MA, Ayuso C. Hum Genet. 2009 Apr;125(3):349. PMID: 19320034
• 9: Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis. Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2009 Apr;125(3):349. PMID: 19320033
• 10: Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, Rodriguez de Alba M, Gonzalez-Gonzalez C, Cantalapiedra D, Ayuso C, Ramos C. Eur J Neurol. 2008 Dec;15(12):1338-44. PMID: 19049551
• 11: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Br J Ophthalmol. 2009 May;93(5):614-21. Epub 2008 Nov 21. PMID: 19028736
• 12: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C. Br J Ophthalmol. 2009 Oct;93(10):1359-64. Epub 2008 Oct 31. PMID: 18977788
• 13: Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease. González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C. J Assist Reprod Genet. 2008 Sep-Oct;25(9-10):477-81. Epub 2008 Oct 14. PMID: 18853247
• 14: Gene symbol: ABCA4. Disease: Macular dystrophy. Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Oct;124(3):321. PMID: 18846678
• 15: Gene symbol: ABCA4. Disease: Macular dystrophy. Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Oct;124(3):319. PMID: 18846675
• 16: Gene symbol: ABCA4. Disease: Macular dystrophy. Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Oct;124(3):314 PMID: 18846660
• 17: Gene symbol: NDP. Disease: Norrie disease. Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Oct;124(3):308. PMID: 18846645
• 18: Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile. Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Ayuso C. Hum Genet. 2008 Oct;124(3):307-8. PMID: 18846643
• 19: Gene symbol: RPGR. Disease: Retinitis Pigmentosa. Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, Ayuso C. Hum Genet. 2008 Oct;124(3):303. PMID: 18846630
• 20: Gene symbol: CHM. Disease: Choroideraemia. Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, Ayuso C. Hum Genet. 2008 Oct;124(3):302. No abstract available. PMID: 18846629
• 21: Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C. Mol Vis. 2008 Aug 4;14:1388-94. PMID: 18682814
• 22: New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C. J Cyst Fibros. 2008 Nov;7(6):505-10. Epub 2008 Jun 24. PMID: 18573697
• 23: CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2709-13. PMID: 18515597
• 24: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):112. PMID: 18386373
• 25: Gene symbol: ABCA4. Disease: Macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):112. PMID: 18386369
• 26: Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa. Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Sep;122(2):212.. PMID: 18386368
• 27: Gene symbol: ABCA4. Disease: Macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):111 PMID: 18386365
• 28: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):111. PMID: 18386364
• 29: Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease. Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Sep;122(2):211. PMID: 18386363
• 30: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):111. PMID: 18386360
• 31: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):110-1. PMID: 18386356
• 32: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):110. PMID: 18386355
• 33: Gene symbol: BEST1. Disease: Best macular dystrophy. Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2008 Feb;123(1):110. PMID: 18386350
• 34: Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy. Villaverde C, Trujillo-Tiebas MJ, Gallego-Merlo J, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Carballo M, Ayuso C. Hum Genet. 2007 Dec;122(5):555. PMID: 18383606
• 35: Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Dec;122(5):548. PMID: 18380025
• 36: Two non-contiguous duplications in the DMD gene in a Spanish family. Fenollar-Cortés M, Gallego-Merlo J, Trujillo-Tiebas MJ, Lorda-Sánchez I, Ayuso C. J Neurogenet. 2008 Jan-Mar;22(1):93-101. PMID: 18363165
• 37: Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Mol Vis. 2008 Feb 4;14:262-7. PMID: 18334942
• 38: Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, Plaza J, Ayuso C, Ramos C. Haemophilia. 2008 May;14(3):593-8. Epub 2008 Mar 4. PMID: 18328062
• 39: Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Mol Vis. 2007 Nov 27;13:2160-2. PMID: 18079693
• 40: Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61. PMID: 18055816
• 41: Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. Trujillo-Tiebas MJ, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa JM, Ayuso García C. Hum Genet. 2007 Jun;121(5):651. PMID: 17879451
• 42: Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa. Avila-Fernandez A, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Jun;121(5):650-1. PMID: 17879450
• 43: Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Narvaiza RC, Perez N, Garcia-Sandoval B, Ayuso C. Hum Genet. 2007 Jun;121(5):648.. PMID: 17879444
• 44: Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Hum Genet. 2007 Jun;121(5):648. PMID: 17879443
• 45: Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Trujillo-Tiebas MJ, Villaverde C, Ayuso C. Hum Genet. 2007 Jun;121(5):648.. PMID: 17879441
• 46: Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Villaverde C, Ayuso C. Hum Genet. 2007 Jun;121(5):647. PMID: 17879437
• 47: Gene symbol: CRB1. Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Gimenez-Pardo A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Apr;121(2):297-8. PMID: 17598245
• 48: Gene symbol: EPM2A. Trujillo-Tiebas MJ, Gómez-Garré P, Pérez-González N, Lorda-Sánchez I, Serratosa JM, Ayuso C. Hum Genet. 2007 Apr;121(2):290. PMID: 17598230
• 49: Gene symbol: EPM2A. Trujillo-Tiebas MJ, Gómez-garré P, Arguirre-Lambán J, Lorda-Sánchez I, Serratosa JM, Ayuso C. Hum Genet. 2007 Apr;121(2):289-90. PMID: 17598229
• 50: Gene symbol: EPM2A. Trujillo-Tiebas MJ, Gómez-Garré P, Fenolla-Cortés M, Lorda-Sánchez I, Serratosa JM, Ayuso C. Hum Genet. 2007 Apr;121(2):289. PMID: 17598204
• 51: Gene symbol: RP2. Villaverde-Montero C, García-Hoyos M, Giménez-Pardo A, Trujillo-Tiebas MJ, Baiget M, Ayuso C. Hum Genet. 2007 Apr;121(2):289. PMID: 17598203 [ 52: Gene symbol: CRB1. Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Martinez MA, Gallego-Merlo J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Apr;121(2):287-8 PMID: 17598198
• 53: Gene symbol: CRB1. Vallespin E, Millan JM, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Gallego J, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2007 Feb;120(6):914. PMID: 17438615
• 54: Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0540. Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Queipo A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2006 Feb;118(6):778. PMID: 17297695
• 55: Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534. Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2006 Feb;118(6):777. PMID: 17297689
• 56: Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510. Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2006 Feb;118(6):774 PMID: 17297678
• 57: Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C. Mol Vis. 2007 Jan 26;13:96-101. PMID: 17277736
• 58: Gene symbol: CRB1. Disease: early onset retinitis pigmentosa. Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2006 Jul;119(6):681 PMID: 17128490
• 59: Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing. Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, Trujillo-Tiebas MJ, Ayuso C, Ramos C. Ann N Y Acad Sci. 2006 Sep;1075:108-17. PMID: 17108199
• 60: Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82. PMID: 16936086
• 61: Prenatal diagnosis of 46, XX male fetus. Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. J Assist Reprod Genet. 2006 May;23(5):253-4. Epub 2006 May 25. PMID: 16724267
• 62: Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Hum Genet. 2005 Dec;118(3-4):536. PMID: 16521246
• 63: Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Hum Genet. 2005 Dec;118(3-4):536. PMID: 16521245
• 64: Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Hum Genet. 2005 Dec;118(3-4):535. PMID: 16521244
• 65: Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Hum Genet. 2005 Dec;118(3-4):535. PMID: 16521243
• 66: Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyas M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Hum Genet. 2005 Dec;118(3-4):534. PMID: 16521240
• 67: New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation. García-Hoyos M, Sanz R, Diego-Alvarez D, Lorda-Sánchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Ramos C, Ayuso C. Am J Med Genet A. 2005 Nov 1;138(4):365-8. PMID: 16222660
• 68: Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C. Mol Vis. 2005 Sep 2;11:705-12. PMID: 16163268
• 69: Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience. González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, Gallego J, Diaz-Recasens J, Ayuso C, Ramos C. J Histochem Cytochem. 2005 Mar;53(3):307-14. PMID: 15750008
• 70: Gene symbol: CFTR. Disease: Cystic fibrosis. Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Hum Genet. 2004 Mar;114(4):403. PMID: 15046061
• 71: [Spinocerebellar ataxia type 8: the case of a Spanish family] Mayo-Cabrero D, Sánchez-Migallón M, Cantarero S, García-Ruiz Espiga PJ, Giménez-Pardo A, Trujillo-Tiebas M, Ayuso-García C. Rev Neurol. 2002 Sep 1-15;35(5):442-5. Spanish. PMID: 12373678
• 72: [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene] Trujillo Tiebas MJ, Giménez Pardo A, García Sandoval B, Ayuso García C. Med Clin (Barc). 2002 May 18;118(18):716. Spanish. PMID: 12042139

FIRMADOS COMO MJ TRUJILLO

• 1: New type of mutations in three spanish families with choroideremia. Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. PMID: 18385043
• 2: High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, García-Sandoval B, Ayuso C, Baiget M, Carballo M. Mol Vis. 2007 Jun 28;13:1031-7. PMID: 17653047
• 3: Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Hum Genet. 2006 Feb;118(6):784.. PMID: 17297718 4: Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538. Riveiro-Alvarez R, Aguirre J, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Hum Genet. 2006 Feb;118(6):778. PMID: 17297693
• 5: Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537. Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Hum Genet. 2006 Feb;118(6):777-8. PMID: 17297692
• 6: Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Hum Genet. 2006 Feb;118(6):777.
• 7: Gene symbol: NDP. Disease: Norrie disease. Riveiro-Alvarez R, Trujillo MJ, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, Ayuso C. Hum Genet. 2006 Jul;119(6):675. PMID: 17128466
• 8: Gene symbol: ABCA4. Disease: Stargardt disease 1. Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Hum Genet. 2006 Jul;119(6):671. PMID: 17128450
• 9: Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH. Lorda-Sánchez I, Diego-Alvarez D, Ayuso C, de Alba MR, Trujillo MJ, Ramos C. Prenat Diagn. 2005 Oct;25(10):934-8. PMID: 16088866
• 10: Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C, Lorda-Sanchez I. Hum Reprod. 2005 May;20(5):1235-43. Epub 2005 Mar 10. PMID: 15760965
• 11: Evaluation of SFRP1 as a candidate for human retinal dystrophies. Garcia-Hoyos M, Cantalapiedra D, Arroyo C, Esteve P, Rodríguez J, Riveiro R, Trujillo MJ, Ramos C, Bovolenta P, Ayuso C. Mol Vis. 2004 Jun 28;10:426-31. PMID: 15235574
• 12: Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism. Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C. Am J Med Genet A. 2003 Aug 15;121A(1):20-4. PMID: 12900896
• 13: Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. González-González MC, Trujillo MJ, Rodríguez de Alba M, Ramos C. Neurology. 2003 Apr 8;60(7):1214-5. No abstract available. PMID: 12682342 [PubMed - indexed for MEDLINE]
• 14: Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. González-González MC, Trujillo MJ, Rodríguez de Alba M, García-Hoyos M, Lorda-Sánchez I, Díaz-Recasens J, Ayuso C, Ramos C. Prenat Diagn. 2003 Mar;23(3):232-4. PMID: 12627425
• 15: Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M. J Med Genet. 2003 Jan;40(1):e8. PMID: 12525556
• 16: Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. González-González MC, García-Hoyos M, Trujillo MJ, Rodríguez de Alba M, Lorda-Sánchez I, Díaz-Recasens J, Gallardo E, Ayuso C, Ramos C. Prenat Diagn. 2002
• Oct;22(10):946-8. PMID: 12378583 17: Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. Lorda-Sanchez I, Sanz R, Diaz-Guillen MA, Fernandez-Toral J, Heine-Suñer D, Rodriguez De Alba M, Gonzalez-Gonzalez C, Trujillo MJ, Ramos C, Rodriguez De Cordoba S, Ayuso C. Genet Couns. 2002;13(2):171-7. PMID: 12150218
• 18: [Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes] Benítez Del Castillo JM, Trujillo MJ, Del Río T, García B, Ayuso C, García Sánchez J. Arch Soc Esp Oftalmol. 2000 Apr;75(4):281-6. Spanish. PMID: 11151159
• 19: [Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis] Martínez Gimeno M, Trujillo MJ, García Sandoval B, del Río T, Maseras M, Ayuso C, Carballo M. Med Clin (Barc). 2000 Nov 25;115(18):699-703. Spanish. PMID: 11141431
• 20: Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families. Trujillo MJ, Martinez-Gimeno M, Giménez A, Lorda I, Bueno J, García-Sandoval B, Ramos C, Carballo M, Ayuso C. Hum Mutat. 2001;17(1):80. PMID: 11139263
• 21: Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family. Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Ophthalmic Genet. 2000 Dec;21(4):251-6. PMID: 11135497
• 22: A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient. Lorda-Sanchez I, Garcia-Ruiz PJ, Rodriguez de Alba M, Montoya J, Playan A, Sarasa JL, Trujillo MJ, Sanz R, Ramos C, Ayuso C. Genet Couns. 2000;11(3):261-5. PMID: 11043434
• 23: Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Ophthalmic Genet. 2000 Sep;21(3):185-9. PMID: 11035551
• 24: Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C. Ophthalmic Genet. 2000 Jun;21(2):123-8. PMID: 10916187
• 25: Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families. Martinez-Gimeno M, Trujillo MJ, Lorda I, Gimenez A, Calvo MT, Ayuso C, Carballo M. Hum Mutat. 2000 Jul;16(1):95-6. PMID: 10874327
• 26: Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online. Trujillo MJ, Millán JM, Nájera C, Beneyto M, García-Sandoval B, Rodriguez de Alba M, Sanz R, Ayuso C. Hum Mutat. 1998;12(3):218. PMID: 10660337
• 27: First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online. Trujillo MJ, Sanz R, Rodriguez de Alba M, Lorda I, Ramos C, Ibañez A, García-Sandoval B, Ayuso C. Hum Mutat. 1998;12(3):213. PMID: 10651486
• 28: Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online. Trujillo MJ, Bueno J, Osorio A, Sanz R, Garcia-Sandoval B, Ramos C, Ayuso C. Hum Mutat. 1998;12(1):70. PMID: 10627133
• 29: Identification of three novel mutations in the MYO7A gene Cuevas JM, Espin s C, Millan JM, Sanchez F, Trujillo MJ, Ayuso C, Beneyto M, Najera C. Hum Mutat. 1999;14(2):181. PMID: 10425080
• 30: Identification of three novel mutations in the MYO7A gene. Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C. Hum Mutat. 1999 Aug 19;14(2):181. PMID: 10447383
• 31: Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs. Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C. Ophthalmic Genet. 1999 Jun;20(2):127-31. PMID: 10420199
• 32: Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M. Mol Cell Probes. 1998 Dec;12(6):417-20. PMID: 9843659
• 33: [The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis] Trujillo MJ, del Río T, Reig C, Benítez J, García Sandoval B, Carballo M, Ayuso C. Med Clin (Barc). 1998 Apr 18;110(13):501-4. Spanish. PMID: 9611733
• 34: G106R rhodopsin mutation is also present in Spanish ADRP patients. Ayuso C, Reig C, Garcia-Sandoval B, Trujillo MJ, Antiñolo G, Borrego S, Carballo M. Ophthalmic Genet. 1996 Sep;17(3):95-101. PMID: 8905849
• 35: Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients. Ayuso C, Trujillo MJ, Robledo M, Ramos C, Benitez J, Martín-Osés F, del Rio T, García-Sandoval B. Hum Genet. 1996 Jul;98(1):51-4. PMID: 8682506
• 36: Polymorphic variations in peripherin-RDS gene in the Spanish population. Trujillo MJ, Ayuso C, Robledo M, Sandoval BG, Ramos C, Benitez J. Ann Genet. 1995;38(4):225-7. PMID: 8629810
• 37: Genetic instability of microsatellites in hematological neoplasms. Robledo M, Martinez B, Arranz E, Trujillo MJ, Gonzalez Ageitos A, Rivas C, Benitez J. Leukemia. 1995 Jun;9(6):960-4. PMID: 7596185

ARTICULO FIRMADOS CON ERROR EN EL NOMBRE: TRUJILLO JM ; TRUJILLO M:

• Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Reig CM, Trujillo JM, Martinez-Gimeno MM, Garcia-Sandoval BM, Calvo TM, Ayuso C, Carballo M. Ophthalmic Genet. 2000 Jun;21(2):79-87. PMID: 10916182
• Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Hum Mutat. 2001 Aug;18(2):109-19. PMID: 11462235

CAPÍTULOS DE LIBROS

• "La Coroideremia"M.J. Trujillo. En: La Retinosis Pigmentaria en España: estudio clínico y genético. Editado por ONCE, 2001; IS-484-0242-1
• "Three year experience in the diagnosis on fetal cells from matrnal blood"- Monography edition of the 12th Fetal Cell Workshop (KARGER). M Rodriguez de Alba, C Gonzalez-Gonzalez, P Palomino, I Lorda-Sanchez, M.J. Trujillo, M García-Hoyos, C.Ayuso, J.Díaz-Recasens, C.Ramos. ; IS-80-246-0397-7
• "Enfermedad de Huntington"Monografía sobre técnicas en biología molecular (Soc. Bioquímica Clínica) C.Ayuso, D.Mayo, J.Gallego; A.Giménez, M.J. Trujillo, C.Ramos.; IS-
• Sección I: Aspectos básicos en Aniridia (revisor: Dr. Pérez-Santonja) 2007. Capítulo 3) Implicaciones genéticas en la Aniridia. Dra. Carmen Ayuso, Mª Jose Trujillo, Cristina Villaverde, Elena Vallespin, Isabel Lorda.Servicio de Genética FUNDACION JIMENEZ DIAZ, CIBER-ER (ISCIII)
• "Medicina genética clínica del siglo XXI"2009. Detección y estudio de anomalías genéticas en adultos. Carmen Ayuso; Isabel Lorda; M.ª José Trujillo; Servicio de Genética. Fundación Jiménez Díaz

ARTÍCULOS EN REVISTAS QUE NO APARECEN EN PUBMED

Artículos en revistas internacionales:

• Gene symbol: FGFR3. Disease: Skeletal Dysplasia. MJ Trujillo-Tiebas, Riveiro R, Queipo A, Vallespin E, Cantalapiedra D, Lorda-Sanchez I, C.Ayuso. Revista: Hum Genet 2004 Mar; 115 (4): 348; IS-0340-6717
• "Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa ". M.G.Miano, F.Testa, M.Strazzullo, M.J. Trujillo y col.European Revista: European Journal of Human Genetics 1999, 7, 687-694.; IS-1018-4813

Artículos en revistas nacionales:

• 1- "Retinosis Pigmentaria; El estudio de la enfermedad desde una perspectiva genética " M.J.Trujillo. Revista : Retinosis Pigmentaria. Boletín informativo de la Asociación Asturiana de Retinosis Pigmentaria. Julio 1995,Nº 5
• 2- "Enfermedades oftalmológicas de herencia mitocondrial "M.J.Trujillo Tiebas. Revista : Visión, 2º semestre, Mes XII, 1996, Nº 10; IS-84-604-1293-8
• 3- "Coroideremia : Aspectos clínicos y moleculares "M.J.Trujillo Tiebas, M. Said Farah, B. Gª Sandoval y C. Ayuso. Revista : Visión, 1semestre, Mes V,1997, N11 pp 9-10; IS-84-604-1293-8
• 4- "Funduscopia en la Retinosis Pigmentaria ". Blanca GªSandoval, J.M.Serrano, C.Ayuso, M.J.Trujillo. Revista : Visión, 1ºsemestre, Mes V, 1997, Nº11 pp 11-14; IS-84-604-1293-8
• 5- "Analisis comparativo entre diferentes métodos de secuenciación ". J.Gallego Merlo, F.Infantes Barbero, A.Barroso Bohorquez, A.Giménez Pardo, M.J.Trujillo, M.Robledo, B.Martinez &J.Benitez. Revista: Nuevo Laboratorio, (1998)1/2, 21-24 ; IS-0213-2117
• 6- "La Retinosis Pigmentaria "C.Ayuso, M.J.Trujillo, R.Sanz y B.Gª Sandoval. Revista: Investigación y Ciencia Mayo;1998; IS-0210136X
• 7- "Retinosis Pigmentaria Sectorial Autosómica Dominante ". T.del Río, M.J.Trujillo, C.Cruz, C.Ayuso, B.García-Sandoval, F. Martín-Osés & J. Benítez. Revista: Archivos de la Sociedad Española de Oftalmología (1998)73:141-144.; IS-0365-6691
• 8- "ADN Fetal en plasma de gestante: aplicaciones en el diagnóstico prenatal". C.Glez-Glez, M.Rodriguez de Alba; MJ Trujillo y col. (2003). Revista: Progr Diag Trat Prenat (2003); 15(2): 72-77; IS-1130-0523
• 9- "ADN fetal en plasma materno. Potencial en diagnóstico prenatal". M. Rodriguez de Alba, C. González-González; MJ Trujillo-Tiebas, M. Garcia-Hoyos, I Lorda-Sánchez; J Plaza, J. Díaz-Recasenes, C.Ayuso y C.Ramos. Revista: Progr. Diag. Trat. Prenat (2004); 16(1):2-39; IS-1130-0523
• 10- ASPECTOS GENÉTICOS DE LA DISTONÍA. Página Web ALDA (Asociación Lucha contra la Distonía Aragón)
• 11 -Artículos en la Revista del COBCM: ISSN:1579-4350.
  • El biólogo en el ámbito sanitario: un enfoque multidisciplinario en el servicio de genética. Biólogos Nº primavera; 2005
  • La enfermedad de Huntington: una demencia que se hereda. Biólogos Nº 9; 2006
  • DISPLASIAS ÓSEAS Cuando los genes "no"dan la talla. Biólogos Nº 12 ; 2007
  • MLPA, técnica molecular innovadora. Biólogos Nº 15; 2008
  • Consejo genético en el Síndrome de Marfan. Biólogos Nº 15; 2008
  • Genética molecular y citogenética: dos disciplinas al servicio del diagnóstico prenatal. Biólogos Nº 18; 2008
  • Ataxias hereditarias. Biólogos Nº 20; 2009
  • El Síndrome de APERT. Biólogos Nº ? por publicar (enviado 2009)
• 12- Artrogriposis fetal congénita: Comunicación de dos casos -Alejandra Kovaleva, Luis Fernández de Castro y Díaz, María José Trujillo y Joaquín Díaz Recaséns. Revista: Revista Española de Ultrasonidos (SESEGO)
• 13- Novedades sobre la Epidermolisis Bullosa en España. Natividad Cuadrado-Corrales; María José Escámez; Marta García; Carolina Sánchez; Nuria Illera, Almudena Holguín, Blanca Duarte, María Luisa Retamosa, María José Trujillo, Carmen Ayuso y Marcela Del Rio. Revista: Boletín de la Asociación Española de Genética Humana (por publicar)
• 14- La genética y su utilidad diagnóstica en las enfermedades hereditarias con discapacidad. María José Trujillo Tiebas. Revista: Revista Nº 9 de la Asociación de Minusválidos de Alpedrete.

2013

• Overview on five-year experience performing first trimester non invasive fetal sex assesment in maternal blood. Ana Bustamante-Aragones, Sara Perlado Marina, Laura Horcajada, Maria José Trujillo-Tiebas, Isabel Lorda, Marta Ruiz Ramos, Javier Plaza, Marta Rodriguez de Alba - Diagnostics ACEPTADO
• Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies: Retrospective Analysis in 420 Spanish Families. Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Ophthalmology. 2013 Jun 4. doi:pii: S0161-6420(13)00333-3. 10.1016/j.ophtha.2013.04.002. [Epub ahead of print] PMID:23755871 Guidelines for genetic study of aniridia.
• Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C. Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-152. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. English, Spanish. PMID: 23597644 C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.
• Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, Pérez-Pérez J. Neurology. 2013 Jan 22;80(4):366-70. doi: 10.1212/WNL.0b013e31827f08ea. Epub 2013 Jan 2. PMID:23284068 Pharmacogenomics J. 2013 Apr;13(2):197-204. doi: 10.1038/tpj.2011.57. Epub 2012 Jan 3.
• Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population. Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Vaquero-Lorenzo C, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Baca-García E, Dal-Ré R, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia. Collaborators (33)
• Almoguera B, Ayuso C, Baca-García E, Dal-Re R, Lopez-Castroman J, Riveiro-Alvarez R, Trujillo MJ, Villaverde C, Almoguera B, Riveiro-Alvarez R, Ayuso C, Dal-Re R, Baca-García E, Lopez-Castroman J, Diaz M, Fernandez- Navarro P, Fernandez-Piqueras J, Vaquero-Lorenzo C, Fernandez-Piqueras J, Vaquero-Lorenzo C, Abad-Santos F, Cabaleiro T, Lopez- Rodriguez R, Novalbos J, Ochoa D, Roman M, Abad-Santos F, de la Rubia A, Covaleda J, Dorado P, LLerena A, Peñas Lledó EM, Dorado P. Source Department of Genetics and Genomics, CAIBER Unit, IIS-Fundación Jiménez Díaz, Madrid, Spain.

2012

• Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Recommendations for the predictive genetic test in Huntington's disease. MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Collaborators (40) Bijlsma E, Blinkenberg E, Bombard Y, Borry P, Craufurd D, Davis M, de Die-Smulders C, Downing C, Dürr A, Barcina MG, Glew R, Heiberg A, Heydon F, Hoffman-Zacharsk D, Ugander UH, Tiebas MJ, Krysa W, Liebaers I, Lohkamp C, Mandich P, Mariotti C, De Schepper B, di Maria E, Nemeth A, Quarrell O, Ribaï P, Semaka A, Seneca S, Sequeiros J, Squitieri F, Sulek A, Meer Lv, Verellen-Dumoulin C, de Wert G, Delatycki M, Guttman M, Hayden M, Nance M, Richards F, Vetter L. Source Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. rhona.macleod@cmft.nhs.uk
• Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects. Morales-Piga A, Bachiller-Corral J, Trujillo-Tiebas MJ, Villaverde-Hueso A, Gamir-Gamir ML, Alonso-Ferreira V, Vázquez-Díaz M, Posada de la Paz M, Ayuso-García C. Bone. 2012 Oct;51(4):748-55. doi: 10.1016/j.bone.2012.07.002. Epub 2012 Jul 13. PMID:22796417
• Recessive Dystrophic Epidermolysis Bullosa: The origin of the c.6527insC mutation in the Spanish population. Sanchez-Jimeno C, Cuadrado-Corrales N, Aller E, García M, Escámez MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M. Br J Dermatol. 2012 Jul 3. doi: 10.1111/j.1365-2133.2012.11128.x. [Epub ahead of print] PMID:22757647
• Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S, Trujillo-Tiebas MJ, Arranz JP, Díaz-Recasens J, Troyano-Luque J, Ramos C. Gene. 2012 Apr 25. [Epub ahead of print] PMID:22561692
• [Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies.] Juan-Mateu J, Gallano P, Trujillo-Tiebas MJ; y Grupo AEGH/CIBERER. Med Clin (Barc). 2012 Apr 24. [Epub ahead of print] Spanish. No abstract available. PMID:22538063
• Noninvasive prenatal diagnosis of monogenic disorders. Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. Epub 2012 Apr 16. PMID:22507053
• Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. Peraita-Ezcurra M, Martínez-García M, Ruiz-Pérez VL, Sánchez-Gutiérrez ME, Fenollar-Cortés M, Vélez-Monsalve C, Ramos-Corrales C, Pastor I, Santonja C, Trujillo-Tiebas MJ. Gene. 2012 May 10;499(1):223-5. Epub 2012 Mar 3. PMID:22406498

2011

• Late onset retinitis pigmentosa. Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP. Ophthalmology. 2011 Dec;118(12):2523-4. No abstract available. PMID:22136677
• Oculodentodigital dysplasia: genetic counselling, reproductive expectatives and molecular assay of a clinical case referred to preimplantational diagnosis.] Martínez-García M, Bustamante-Aragonés A, Lorda I, Trujillo-Tiebas MJ. Med Clin (Barc). 2011 Oct 22. [Epub ahead of print] Spanish. No abstract available. PMID: 22024562 [PubMed - as supplied by publisher]
• BMC Med Genet. 2011 Jun 9;12:81. ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study. Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Lopez-Rodriguez R, Fernandez-Navarro P, Baca-García E, Fernandez-Piqueras J, Dal-Ré R, Abad-Santos F, Llerena A, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia. Collaborators (22) Almoguera B, Ayuso C, Baca-García E, Dal-Ré R, Lopez-Castroman J, Riveiro-Alvarez R, Trujillo MJ, Villaverde C, Diaz M, Fernandez-Navarro P, Fernandez-Piqueras J, Vaquero-Lorenzo C, Abad-Santos F, Lopez-Rodriguez R, Novalbos J, Ochoa D, Roman M, de la Rubia A, Cobaleda J, Dorado P, Llerena A, Peñas Lledó EM.
• Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.Martinez-Garcia M, Ainse E, García-Hoyos M, Bustamante A, Cardero R, Ramos-Corrales C, Trujillo-Tiebas MJ, de Alba MR, Lorda I. J Assist Reprod Genet. 2011 May 4. [Epub ahead of print] No abstract available. PMID: 21573680
• Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C. Mol Vis. 2011 Apr 29;17:1103-9. PMID: 21552474
• [Recommendations of good practices for molecular diagnosis of Huntington disease.] Ramos Arroyo MA, Trujillo-Tiebas MJ, Milá M; Grupo AEGH/CIBERER.Med Clin (Barc). 2011 Apr 25. [Epub ahead of print] Spanish. No abstract available. PMID: 21524764 Med Clin (Barc). 2011 Mar 19;136(7):303-8. Epub 2010 Sep 21.
• [Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER]. [Article in Spanish] Garcia Planells J, Molano J, Borrego S; Grupo AEGH/CIBERER. Collaborators (11) Garcia Planells J, Molano J, Borrego S, Trujillo MJ, Gallano P, Baiget M, Grau E, Millan JM, Marcos I, Gallego J, Ayuso C. PMID: 20863536
• New type of mutations in three spanish families with choroideremia. Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. PMID: 18385043
• Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. Vallespin E, Avila-Fernandez A, Almoguera B, Velez-Monsalve C, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C.Hum Genet. 2010 Apr;127(4):487. No abstract available. PMID: 21488265
• Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Mol Vis. 2010 Dec 3;16:2550-8.PMID: 21151602
• Holt-Oram syndrome: Study of 7 cases. Martínez-García M, Lorda-Sanchez I, García-Hoyos M, Ramos C, Ayuso C, Trujillo-Tiebas MJ. Med Clin (Barc). 2010 Nov 13;135(14):653-657. Epub 2010 Jun 17. Spanish. PMID: 21070912
• A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M. BMC Med Genet. 2010 Sep 29;11:139.PMID: 20920254
• Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism. Martinez-Garcia M, Riveiro-Alvarez R, Villaverde-Montero C, Cantalapiedra D, Garcia-Sandoval B, Ayuso C, Trujillo-Tiebas MJ. Clin Experiment Ophthalmol. 2010 Jul;38(5):489-95.PMID: 20649618
• The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Br J Dermatol. 2010 Jul;163(1):155-61. Epub 2010 Feb 22.PMID: 20184583
• Escámez MJ, Cuadrado-Corrales N, García M, Sanchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Hum Genet. 2010 Jan;127(1):121. No abstract available. PMID: 20108434 [PubMed - in process]
• Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Garcia-Hoyos M, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2010 Jan;127(1):119. No abstract available. PMID: 20108432
• Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2010 Jan;127(1):119. No abstract available. PMID: 20108431
• García M, Escamez MJ, Cuadrado-Corrales N, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Hum Genet. 2010 Jan;127(1):116-7. No abstract available. PMID: 20108428
• García M, Escamez MJ, Cuadrado-Corrales N, Illera N, Sánchez Jimeno C, Vélez C, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Hum Genet. 2010 Jan;127(1):120-1. No abstract available. PMID: 20108398
• Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Garcia-Hoyos M, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2010 Jan;127(1):119. No abstract available. PMID: 20108396
• Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C. Hum Genet. 2010 Jan;127(1):118.