A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci -: art. no. e14

被引：24

作者：

Modamio-Hoybjor, S

Moreno-Pelayo, MA

Mencía, A

del Castillo, I

Chardenoux, S

Morais, D

Lathrop, M

Petit, C

Moreno, F

机构：

[1] Hosp Ramon & Cajal, Unidad Genet Mol, E-28034 Madrid, Spain

[2] Inst Pasteur, CNRS, URA 1968, Unite Genet Deficits Sensoriels, Paris, France

[3] Hosp Univ, Serv Otorrhinolaringol, Valladolid, Spain

[4] Ctr Natl Genotypage, Evry, France

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 02期

关键词：

D O I：

10.1136/jmg.2003.012500

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：5

共 25 条

[1] LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO CHROMOSOME 7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION [J].

BALDWIN, CT ;

WEISS, S ;

FARRER, LA ;

DESTEFANO, AL ;

ADAIR, R ;

FRANKLYN, B ;

KIDD, KK ;

KOROSTISHEVSKY, M ;

BONNETAMIR, B .

HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1637-1642

[2] Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes [J].

Bom, SJH ;

Kunst, HPM ;

Huygen, PLM ;

Cremers, FPM ;

Cremers, CWRJ .

BRITISH JOURNAL OF AUDIOLOGY, 1999, 33 (05) :335-348

[3] The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q [J].

Coucke, P ;

VanCamp, G ;

Demirhan, O ;

Kabakkaya, Y ;

Balemans, W ;

VanHauwe, P ;

VanAgtmael, T ;

Smith, RJH ;

Parving, A ;

Bolder, CHHM ;

Cremers, CWRJ ;

Willems, PJ .

GENOMICS, 1997, 40 (01) :48-54

[4] A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. [J].

del Castillo, I ;

Villamar, M ;

Moreno-Pelayo, MA ;

del Castillo, FJ ;

Alvarez, A ;

Tellería, D ;

Menéndez, I ;

Moreno, F .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (04) :243-U1

[5] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[6]

FINLEY D, 1991, ANNU REV CELL BIOL, V7, P25, DOI 10.1146/annurev.cb.07.110191.000325

[7]

Greinwald JH, 1998, AM J MED GENET, V78, P107, DOI 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.3.CO

[8]

2-9

[9] Hedgehog signalling is required for correct anteroposterior patterning of the zebrafish otic vesicle [J].

Hammond, KL ;

Loynes, HE ;

Folarin, AA ;

Smith, J ;

Whitfield, TT .

DEVELOPMENT, 2003, 130 (07) :1403-1417

[10] THE UBIQUITIN SYSTEM FOR PROTEIN-DEGRADATION [J].

HERSHKO, A ;

CIECHANOVER, A .

ANNUAL REVIEW OF BIOCHEMISTRY, 1992, 61 :761-807

← 1 2 3 →