Genética y Genómica de Enfermedades Raras y Complejas

ResponsablesImagen en alta resolución. Este enlace se abrirá mediante lightbox, puede haber un cambio de contextoGrupo enfermedades raras

• Carmen Ayuso García (Jefe de grupo CIBERER)

IP

• Marta Cortón Pérez
• Pablo Mínguez Paniagua
• Berta Almoguera

Investigación

• Básica
• Clínica

Producción científica

Resumen 2017

Publicaciones 2017

Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group. Sánchez-Jimeno C, Escámez MJ, Ayuso C, Trujillo-Tiebas MJ, Del Río M, en representación de la Cátedra de la Fundación Jiménez Díaz de Medicina Regenerativa y Bioingeniería Tisular, DEBRA-España y de otros profesionales sanitarios..

Actas dermo-sifiliográficas. 2017 Nov 24.

PMID: 29180129

FI: 0

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, UK Inherited Retinal Dystrophy Consortium., Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

American journal of human genetics. 2017 Apr 6;100(4):592-604.

PMID: 28285769

FI: 10,794

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Blanco-Kelly F, Rodrigues-Jacy da Silva L, Sanchez-Navarro I, Riveiro-Alvarez R, Lopez-Martinez MA, Corton M, Ayuso C.

BMC medical genetics 2017 Jan 7 Volume: 18 Issue: 1 Pages: 1.

PMID: 28061825

FI: 2,094

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M.

European journal of human genetics : EJHG. 2017 May;25(5):515-519.

PMID: 28272535

FI: 4,287

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Martin-Merida I, Sanchez-Alcudia R, Fernandez-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, Lopez-Molina MI, Avila-Fernandez A, Carballo M, Corton M, Ayuso C.

Investigative ophthalmology & visual science. 2017 Feb 1 Volume: 58 Issue: 2 Pages: 1045-1053.

PMID: 28192796

FI: 3,303

Mutations in <i>SCAPER</i> cause autosomal recessive retinitis pigmentosa with intellectual disability.

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T.

Journal of medical genetics. 2017 Aug 9.

PMID: 28794130

FI: 5,451

Recommendations for the use of microarrays in prenatal diagnosis.

Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC, Grupo de diagnóstico prenatal del INGEMM., Grupo de genética prenatal del Hospital Clínico San Carlos..

Medicina clínica. 2017 Apr 7 Volume: 148 Issue: 7 Pages: 328.e1-328.e8.

PMID: 28233562

FI: 1,125

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M.

Molecular genetics & genomic medicine. 2017 Nov Volume: 5 Issue: 6 Pages: 774-780.

PMID: 29178640

FI: 0

USH2A Gene Editing Using the CRISPR System.

Fuster-García C, García-García G, González-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vázquez-Manrique RP, Millán JM, Aller E.

Molecular therapy. Nucleic acids 2017 Sep 15 Volume: 8 Issue: Pages: 529-541.

PMID: 28918053

FI: 6,392

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications.

González N, Prieto I, Del Puerto-Nevado L, Portal-Nuñez S, Ardura JA, Corton M, Fernández-Fernández B, Aguilera O, Gomez-Guerrero C, Mas S, Moreno JA, Ruiz-Ortega M, Sanz AB, Sanchez-Niño MD, Rojo F, Vivanco F, Esbrit P, Ayuso C, Alvarez-Llamas G, Egido J, García-Foncillas J, Ortiz A, Consortium DC.

Oncotarget 2017 Mar 14;8(11):18456-18485.

PMID: 28060743

FI: 5,168

Bioinformatics Analysis of Functional Associations of PTMs.

Minguez P, Bork P.

Photosynthesis research protocols 2017 Volume: 1558 Issue: Pages: 303-320.

PMID: 28150244

FI: 0

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS hub for clinical trials 2017 Volume: 12 Issue: 2 Pages: e0172363.

PMID: 28231309

FI: 2,806

Colon cancer modulation by a diabetic environment: A single institutional experience.

Prieto I, Del Puerto-Nevado L, Gonzalez N, Portal-Nuñez S, Zazo S, Corton M, Minguez P, Gomez-Guerrero C, Arce JM, Sanz AB, Mas S, Aguilera O, Alvarez-Llamas G, Esbrit P, Ortiz A, Ayuso C, Egido J, Rojo F, Garcia-Foncillas J, DiabetesCancerConnect Consortium..

PLoS hub for clinical trials 2017 Volume: 12 Issue: 3 Pages: e0172300.

PMID: 28253286

FI: 2,806

[Patients organizations and new drug approval in the US. Eteplirsen and Duchenne muscular dystrophy case].

Dal-Ré R, Lopez de Munain A, Ayuso C.

Revista de neurologia. 2017 Oct 16 Volume: 65 Issue: 8 Pages: 373-380.

PMID: 28990648

FI: 0,743

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.

Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J.

Scientific reports. 2017 Apr 11 Volume: 7 Issue: Pages: 46175.

PMID: 28397860

FI: 4,259

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.

Gomez-Sanchez CI, Carballo JJ, Riveiro-Alvarez R, Soto-Insuga V, Rodrigo M, Mahillo-Fernandez I, Abad-Santos F, Dal-Ré R, Ayuso C.

Scientific reports. 2017 Sep 4 Volume: 7 Issue: 1 Pages: 10391.

PMID: 28871191

FI: 4,259

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME.

Stem cell research. 2017 Oct Volume: 24 Issue: Pages: 81-84.

PMID: 29034899

FI: 3,494

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G, Puig-Butille JA, Gimenez-Xavier P, Segu-Roig A, Potrony M, Badenas C, Alvarez V, Millán JM, Trujillo-Tiebas MJ, Ramos-Arroyo MA, Milà M, Puig S.

Molecular neurobiology. 2017 Jul Volume: 54 Issue: 5 Pages: 3906-3910.

PMID: 27924526

FI: 6,190

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.

Hochstenbach R, Slunga-Tallberg A, Devlin C, Floridia G, de Alba MR, Bhola S, Rack K, Hastings R.

European journal of human genetics : EJHG. 2017 Feb Volume: 25 Issue: 3 Pages: 273-274.

PMID: 28000702

FI: 4,287

Proyectos, Contratos y EOs vigentes 2017

Fuentes de financiación públicas de proyectos que se están desarrollando en el IIS-FJD:

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