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W (1998) Radiological malformations of the ear in Pendred syndrome. Clin
Radiol 53:268-273.
Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L (1991) X-linked deafness,
stapes gushers and a distinctive defect of the inner ear.
Neuroradiology
33:326-330.
Pieke-Dahl S, Kelly PM, Astuto LM, Weston MD, Kenyon JB, Kimberling WJ (1998)
Localization of USH2B to 5q14.3-q21.3. In: The Molecular Biology of Hearing
and Deafness. Publisher Bethesda, MD, p. 88.
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth
B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I,
Romeo G, Smith JC, Read AP, Wegner M, Goossens M (1998) SOX10 mutations
in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173.
Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B (1995) Mutational hotspot
in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet
11:96-98.
Popkin JS, Polomeno RC (1974) Stickler's syndrome (hereditary progressive arthro-
ophthalmopathy). Can Med Assoc J 111:1071-1076.
Prasher D (1998) New strategies for prevention and treatment of noise-induced
hearing loss. Lanct 352:1240-1242.
Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touch-
man JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA (1998) Correc-
tion of deafness in shaker-2 mice by an unconventional myosin in a BAC
transgene. Science 280:1444-1447.
Prockop DJ, Kivirikko KI (1995) Collagens: Molecular biology, diseases, and poten-
tials for therapy. Annu Rev Biochem 64:403-434.
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M,
Chakravart A (1994) A missense mutation of the endothelin-B receptor gene in
multigenic Hirschsprung's disease. Cell 79:1257-1266.
Qumsiyeh MB (1992) EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft
lip/palate) is on 7p11.2-q21.3. Clin Genet 42:101.
Rarey KE, Davis LE (1984) Inner ear anomalies in Waardenburg's syndrome asso-
ciated with Hirschsprung's disease. Int J Pediatr Otorhinolaryngol 8:181-189.
Raynor EM, Mulroy MJ (1997) Sensorineural hearing loss in the mdx mouse: A
model of Duchenne muscular dystrophy. Laryngoscope 107:1053-1056.
Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656-665.
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton
KE, Grossman A, Trembath R (1997) Pendred syndrome—100 years of under-
ascertainment? Quart J Med 90:443-447.
Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin
JA, Bumby A, Pembrey ME (1992) Clinical and genetic heterogeneity in X-linked
deafness. Br J Audiol 26:109-114.
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Muta-
tions in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Nat Genet 8:98-103.
Riazuddin S, Castelein CM, Friedman TB, Lalwani AK, Liburd N, Naz S, Smith TN,
Riazuddin S, Wilcox ER (1999) A novel nonsyndromic form of deafness maps to
4q28 and demonstrates incomplete penetrance. Am J Hum Genet 65:A101.
Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ (1998)
Functional defects of Cx26 resulting from a heterozygous missense mutation in a
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