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Items: 1 to 50 of 88

1.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I.

J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x.

2.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group.

Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.

PMID:
31160754
3.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.

4.

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Del Castillo FJ, Del Castillo I.

Front Mol Neurosci. 2017 Dec 22;10:428. doi: 10.3389/fnmol.2017.00428. eCollection 2017. Review.

5.

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.

Vogl C, Panou I, Yamanbaeva G, Wichmann C, Mangosing SJ, Vilardi F, Indzhykulian AA, Pangršič T, Santarelli R, Rodriguez-Ballesteros M, Weber T, Jung S, Cardenas E, Wu X, Wojcik SM, Kwan KY, Del Castillo I, Schwappach B, Strenzke N, Corey DP, Lin SY, Moser T.

EMBO J. 2016 Dec 1;35(23):2536-2552. Epub 2016 Jul 25.

6.

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.

Santarelli R, del Castillo I, Cama E, Scimemi P, Starr A.

Hear Res. 2015 Dec;330(Pt B):200-12. doi: 10.1016/j.heares.2015.07.007. Epub 2015 Jul 15. Review.

PMID:
26188103
7.

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I.

Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.

PMID:
25785835
8.

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M.

Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30.

9.

Similar phenotypes caused by mutations in OTOG and OTOGL.

Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ.

Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008.

10.

Prospecting metal-resistant plant-growth promoting rhizobacteria for rhizoremediation of metal contaminated estuaries using Spartina densiflora.

Andrades-Moreno L, Del Castillo I, Parra R, Doukkali B, Redondo-Gómez S, Pérez-Palacios P, Caviedes MA, Pajuelo E, Rodríguez-Llorente ID.

Environ Sci Pollut Res Int. 2014 Mar;21(5):3713-21. doi: 10.1007/s11356-013-2364-8. Epub 2013 Nov 27.

PMID:
24281681
11.

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.

Gandía M, Del Castillo FJ, Rodríguez-Álvarez FJ, Garrido G, Villamar M, Calderón M, Moreno-Pelayo MA, Moreno F, del Castillo I.

PLoS One. 2013 Sep 6;8(9):e73566. doi: 10.1371/journal.pone.0073566. eCollection 2013. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/571fea42-45d0-4dcc-a676-6709c60c2cad.

12.

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.

Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K.

Otol Neurotol. 2013 Jun;34(4):650-6. doi: 10.1097/MAO.0b013e31828d6501.

PMID:
23640091
13.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.

14.

Genetics of deafness.

Sartorato EL, Friderici K, Del Castillo I.

Genet Res Int. 2012;2012:562848. doi: 10.1155/2012/562848. Epub 2012 Apr 18. No abstract available.

15.

Self-bioremediation of cork-processing wastewaters by (chloro)phenol-degrading bacteria immobilised onto residual cork particles.

del Castillo I, Hernández P, Lafuente A, Rodríguez-Llorente ID, Caviedes MA, Pajuelo E.

Water Res. 2012 Apr 15;46(6):1723-34. doi: 10.1016/j.watres.2011.12.038. Epub 2011 Dec 30.

PMID:
22265252
16.

Genetics of isolated auditory neuropathies.

Del Castillo FJ, Del Castillo I.

Front Biosci (Landmark Ed). 2012 Jan 1;17:1251-65. Review.

PMID:
22201801
17.

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

del Castillo FJ, del Castillo I.

Front Biosci (Landmark Ed). 2011 Jun 1;16:3252-74. Review.

PMID:
21622233
18.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I.

Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5.

19.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

20.

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

Simões-Teixeira H, Matos TD, Marques MC, Dias O, Andrea M, Barreiros E, Barreiros L, Moreno F, Fialho G, Caria H, Del Castillo I.

Am J Med Genet A. 2011 Apr;155A(4):924-7. doi: 10.1002/ajmg.a.33740. Epub 2011 Mar 17. No abstract available.

PMID:
21416585
21.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.

Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1.

22.

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB.

Genet Test Mol Biomarkers. 2010 Apr;14(2):183-7. doi: 10.1089/gtmb.2009.0146.

PMID:
20073550
23.

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Viñuela A, Morín M, Villamar M, Morera C, Lavilla MJ, Cavallé L, Moreno-Pelayo MA, Moreno F, del Castillo I.

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026. No abstract available.

PMID:
19764030
24.

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.

Santarelli R, Del Castillo I, Rodríguez-Ballesteros M, Scimemi P, Cama E, Arslan E, Starr A.

J Assoc Res Otolaryngol. 2009 Dec;10(4):545-56. doi: 10.1007/s10162-009-0181-z. Epub 2009 Jul 28.

25.

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA.

Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28.

26.

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA.

Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12.

PMID:
19363479
27.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G.

Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5.

28.

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.

Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

PMID:
18952432
29.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.

Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.

PMID:
18381613
30.

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

Morín M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I.

Am J Med Genet A. 2008 Apr 15;146A(8):1032-7. doi: 10.1002/ajmg.a.32181. No abstract available.

PMID:
18348274
31.

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.

Clin Genet. 2008 Mar;73(3):262-7. doi: 10.1111/j.1399-0004.2007.00947.x. Epub 2007 Dec 29.

PMID:
18177466
32.

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L, Moreno-Pelayo MA.

Hum Genet. 2008 Feb;123(1):41-53. Epub 2007 Nov 21.

PMID:
18030493
33.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, Del Castillo I, Griffith AJ.

Clin Genet. 2008 Jan;73(1):50-4. Epub 2007 Nov 17.

PMID:
18028453
34.

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA.

Am J Hum Genet. 2007 Jun;80(6):1076-89. Epub 2007 Apr 24.

35.

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 malformations.

Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I.

Am J Med Genet A. 2007 Apr 1;143A(7):757-62. No abstract available.

PMID:
17309062
36.

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I.

J Med Genet. 2006 Nov;43(11):e54.

37.

[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].

Gallo-Terán J, Morales-Angulo C, Sánchez N, Manrique M, Rodríguez-Ballesteros M, Moreno-Pelayo MA, Moreno E, del Castillo I.

Acta Otorrinolaringol Esp. 2006 Aug-Sep;57(7):333-5. Spanish.

38.

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.

Am J Hum Genet. 2006 Aug;79(2):291-302. Epub 2006 Jun 22.

39.
40.

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) syndrome.

Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F.

Am J Med Genet A. 2006 Feb 15;140(4):392-7. No abstract available.

PMID:
16411215
41.

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

42.

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

Alvarez A, del Castillo I, Villamar M, Aguirre LA, González-Neira A, López-Nevot A, Moreno-Pelayo MA, Moreno F.

Am J Med Genet A. 2005 Sep 1;137A(3):255-8.

PMID:
16088916
43.

Dynamic regulation of Na(+)-K(+)-2Cl(-) cotransporter surface expression by PKC-{epsilon} in Cl(-)--secretory epithelia.

Del Castillo IC, Fedor-Chaiken M, Song JC, Starlinger V, Yoo J, Matlin KS, Matthews JB.

Am J Physiol Cell Physiol. 2005 Nov;289(5):C1332-42. Epub 2005 Jul 6.

44.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.

J Med Genet. 2005 Jul;42(7):588-94. No abstract available.

45.

[Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity].

Gallo-Terán J, Arellano B, Morales-Angulo C, Modamio-Høybjør S, Moreno-Pelayo MA, Ramírez-Camacho R, del Castillo I, Moreno F.

Acta Otorrinolaringol Esp. 2004 May;55(5):212-7. Spanish.

46.

[Genetic study of hearing loss in families from Argentina].

Reynoso RA, Hendl S, Barteik ME, Curet CA, Nicemboin L, Moreno Barral J, Rodríguez Ballesteros M, Del Castillo I, Moreno F.

Rev Fac Cien Med Univ Nac Cordoba. 2004;61(1):13-9. Spanish.

PMID:
15366230
47.

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ.

Hum Mutat. 2004 Oct;24(4):305-11.

PMID:
15365987
48.

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].

Gallo-Terán J, Megía López R, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón Gutiérrez A, Moreno Herrero F.

Acta Otorrinolaringol Esp. 2004 Mar;55(3):120-5. Review. Spanish.

49.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.

J Med Genet. 2004 Mar;41(3):147-54.

50.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Morais D, Lathrop M, Petit C, Moreno F.

J Med Genet. 2004 Feb;41(2):e14. No abstract available.

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