Biology Reference
In-Depth Information
del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernandez FJ,
Rodriguez M, Borras I, Montero A, Bellon J, Tapia MC, Moreno F (1996) A novel
locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome
Xp22. Hum Mol Genet 5:1383-1387.
Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F,
Weil D, Petit C (1998) Connexin 26 gene linked to a dominant deafness. Nature
393:319-320.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn
AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied
A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha
M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al. (1997) Prelingual
deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum
Mol Genet 6:2173-2177.
DeStefano AL, Cupples LA, Arnos KS, Asher JH, Jr., Baldwin CT, Blanton S, Carey
ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance
WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA
(1998) Correlation between Waardenburg syndrome phenotype and genotype
in a population of individuals with identified PAX3 mutations. Hum Genet
102:499-506.
Dodson HC, Piper TA, Clarke JD, Quinlivan RM, Dickson G (1995) Dystrophin
expression in the hair cells of the cochlea. J Neurocytol 24:625-632.
Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME (1994) The brain-
specific POU-box gene Brn4 is a sex-linked transcription factor located on the
human and mouse X chromosomes. Mamm Genome 5:180-182.
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C,
Munnich A, Lyonnet S (1996) Mutation of the endothelin-3 gene in the
Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet
12:442-444.
Epstein DJ, Vekemans M, Gros P (1991) Splotch (Sp2H), a mutation affecting
development of the mouse neural tube, shows a deletion within the paired
homeodomain of Pax-3. Cell 67:767-774.
Erkman L, McEvilly RJ, Luo L, Ryan AK, Hooshmand F, O'Connell SM, Keithley
EM, Rapaport DH, Ryan AF, Rosenfeld MG (1996) Role of transcription factors
Brn-3.1 and Brn-3.2 in auditory and visual system development.
Nature
381:603-606.
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield
E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26
mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398.
Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D,
Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB,
Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (1998)
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher
syndrome type IIa. Science 280:1753-1757.
Evans KL, Fantes J, Simpson C, Arveiler B, Muir W, Fletcher J, van Heyningen V,
Steel KP, Brown KA, Brown SDM, St. Clair D, Porteous DJ (1993) Human olfac-
tory marker protein maps close to tyrosinase and is a candidate gene for Usher
syndrome type I. Human Molecular Genetics 2:115-118.
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E,
Nassir E, Baxevanis AD, Sheffield VC, Green ED (1997) Pendred syndrome is
