Biology Reference
In-Depth Information
Treacher Collins E (1900) Cases with symetrical congenital notches in the outer part
of each lid and defective development of the malar bones. Trans Ophthal Soc UK
20:190-192.
Usher CH (1914) On the inheritance of retinitis pigmentosa with notes of cases.
R Land Opthal Hosp Res 18:130-236.
Vahava O, Morell R, Lynch ED, Weiss S, et al. (1998) Mutation in transcription factor
POU4F3 associated with inherited progressive hearing loss in humans. Science
279:1950-1954.
van den Ouweland JMW, Lemkes HHPJ, Ruitenbeck W, Sandkuijl LA, et al. (1992)
Mutation in mitochondrial tRNA (leu-UUR) gene in a large pedigree with
maternally transmitted type II diabetes mellitus and deafness. Nature Genet
1:368-371.
Vanderbilt University Hereditary Deafness Study Group (1968) Dominantly
inherited low frequency hearing loss. Arch Otolaryng 88:242-250.
Waardenburg PJ (1951) A new syndrome combining developmental anomalies of
the eyelids, eyebrows and nose root with pigmentary defects of the iris and head
hair and congenital deafness. Am J Hum Genet 3:195-253.
Watanabe A, Takeda K, Ploplis B, Tachibana M (1998) Epistatic relationship
between Waardenburg Syndrome genes MITF and PAX3. Nat Genet 18:283-286.
Wattanasirichaigoon D, Beggs AH (1998) Molecular genetics of long-QT syndrome.
Curr Opin Pediatr 10:628-634.
Wolf B, Heard GS, Weissbecker KA, McVoy JR, et al. (1985) Biotinidase deficiency:
Initial clinical features and rapid diagnosis. Ann Neurol 18:614-617.
Xia JH, Liu CY, Tang BS, Pan Q, et al. (1998) Mutations in the gene encoding gap
junction protein beta-3 associated with autosomal dominant hearing impairment.
Nat Genet 20:370-373.
Zelante L, Gasparini P, Estivill X, Melchionda S, et al. (1997) Connexin 26 muta-
tions associated with the most common form of non-syndromic neurosensory
autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet
6:1605-1609.
Search WWH ::




Custom Search