Novel mutation in the gene encoding the GATA3 transcription factor in a spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformationsHERNANDEZ, Alba M; VILLAMAR, Manuela; ROSELLO, Lidia et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 7, pp 757-762, issn 1552-4825, 6 p.Article

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing LossHUEBNER, Antje K; GANDIA, Marta; MORENO, Felipe et al.American journal of human genetics. 2011, Vol 88, Num 5, pp 621-627, issn 0002-9297, 7 p.Article

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairmentMORIN, Matías; BRYAN, Keith E; RUBENSTEIN, Peter A et al.Human molecular genetics (Print). 2009, Vol 18, Num 16, pp 3075-3089, issn 0964-6906, 15 p.Article

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locusVERPY, Elisabeth; MASMOUDI, Saber; MORENO, Felipe et al.Nature genetics. 2001, Vol 29, Num 3, pp 345-349, issn 1061-4036Article

Secretion of the Escherichia coli K-12 SheA hemolysin is independent of its cytolytic activityDEL CASTILLO, Francisco J; MORENO, Felipe; DEL CASTILLO, Ignacio et al.FEMS microbiology letters. 2001, Vol 204, Num 2, pp 281-285, issn 0378-1097Article

Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese FamilySIMOES-TEIXEIRA, Helena; MATOS, Tiago D; DEL CASTILLO, Ignacio et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 924-927, issn 1552-4825, 4 p.Article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneHILGERT, Nele; HUENTELMAN, Matthew J; CASTORINA, Pierangela et al.European journal of human genetics. 2009, Vol 17, Num 4, pp 517-524, issn 1018-4813, 8 p.Article

Persistent sinus venosus valve mimicking pulmonary stenosis and atrial tumorMORENO, Felipe; CASTRO, Carmen; BORCHES, Daniel et al.The Annals of thoracic surgery. 2006, Vol 81, Num 3, pp 1123-1126, issn 0003-4975, 4 p.Article

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in spanish romani (gypsies) with autosomal recessive non-syndromic hearing lossALVAREZ, Araceli; DEL CASTILLO, Ignacio; VILLAMAR, Manuela et al.American journal of medical genetics. 2005, Vol 137A, Num 3, pp 255-258, issn 0148-7299, 4 p.Article

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of Keratitis-Ichthyosis-Deafness (KID) syndromeALVAREZ, Araceli; DEL CASTILLO, Ignacio; PERA, Alejandra et al.American journal of medical genetics. 2003, Vol 117A, Num 1, pp 89-91, issn 0148-7299, 3 p.Article

A deletion involving the connexin 30 gene in nonsyndromic hearing impairmentDEL CASTILLO, Ignacio; VILLAMAR, Manuela; MORENO-PELAYO, Miguel A et al.The New England journal of medicine. 2002, Vol 346, Num 4, pp 243-249, issn 0028-4793Article

A de novo Missense Mutation in the Gene Encoding the SOX10 Transcription Factor in a Spanish Sporadic Case of Waardenburg Syndrome Type IVMORIN, Matias; VINUELA, Antonio; RIVERA, Teresa et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 8, pp 1032-1037, issn 1552-4825, 6 p.Article

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing lossPERA, Alejandra; VILLAMAR, Manuela; VINUELA, Antonio et al.European journal of human genetics. 2008, Vol 16, Num 8, pp 888-896, issn 1018-4813, 9 p.Article

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a spanish familial case of deafness-dystonia (mohr-tranebjaerg) syndromeAGUIRRE, Luis A; DEL CASTILLO, Ignacio; MACAYA, Alfons et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 4, pp 392-397, issn 1552-4825, 6 p.Article

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyDEL CASTILLO, Ignacio; MORENO-PELAYO, Miguel A; BALLANA, Ester et al.American journal of human genetics. 2003, Vol 73, Num 6, pp 1452-1458, issn 0002-9297, 7 p.Article

Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3ARELLANO, Beatriz; RAMIREZ CAMACHO, Rafael; GARCIA BERROCAL, Jose Ramon et al.Archives of otolaryngology, head & neck surgery. 2000, Vol 126, Num 9, pp 1065-1069, issn 0886-4470Article