Biology Reference
In-Depth Information
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JK, Huizing EH, Cremers CW, Kimberling WJ, et al. (1994) Linkage of autoso-
mal dominant hearing loss to the short arm of chromosome 1 in two families.
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J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt
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G (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant
deafness in four DFNA2 families. Hum Mol Genet 8:1321-1328.
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sensorineural hearing loss) maps to chromosome 7 in the region containing the
nonsyndromic deafness gene DFNB4. Nat Genet 12:421-423.
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Cremers CW, Delleman WJ (1988) Usher's syndrome, temporal bone pathology. Int
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Cremers CW, Hombergen GC, Scaf JJ, Huygen PL, Volkers WS, Pinckers AJ (1985)
X-linked progressive mixed deafness with perilymphatic gusher during stapes
surgery. Arch Otolaryngol 111:249-254.
Cremers WR, Bolder C, Admiraal RJ, Everett LA, Joosten FB, van Hauwe P, Green
ED, Otten BJ (1998) Progressive sensorineural hearing loss and a widened
vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg
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D'Souza VN, Nguyen TM, Morris GE, Karges W, Pillers DA, Ray PN (1995) A novel
dystrophin isoform is required for normal retinal electrophysiology. Hum Mol
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da-Silva EO (1991) Waardenburg I syndrome: A clinical and genetic study of two
large Brazilian kindreds, and literature review. Am J Med Genet 40:65-74.
Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson
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and velocardiofacial syndromes. Nat Genet 13:458-460.
de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH,
Cremers FP (1995) A duplication/paracentric inversion associated with familial
X-linked deafness (DFN3) suggests the presence of a regulatory element more
than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 4:2145-2150.
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D,
Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M,
Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers
HH, Cremers FP (1996) Identification of a hot spot for microdeletions in patients
with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene
POU3F4. Hum Mol Genet 5:1229-1235.
de Kok YJM, Bom SJH, Brunt TM, Kemperman MH, van Beusekom E, van der
Velde-Visser SD, Robertson NG, Morton CC, Huygen PLM, Verhagen WIM,
Brunner HG, Cremers C, Cremers FPM (1999) A Pro51Ser mutation in the
COCH gene is associated with late onset autosomal dominant progressive sen-
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