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Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller
CG, Pelias MZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes.
Usher Syndrome Consortium. Am J Med Genet 50:32-38.
Smith RJ, Steel KP, Barkway C, Soucek S, Michaels L (1992) A histologic study of
nonmorphogenetic forms of hereditary hearing impairment. Arch Otolaryngol
Head Neck Surg 118:1085-1094.
Sommer A, Young-Wee T, Frye T (1983) Previously undescribed syndrome of cran-
iofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 15:71-77.
Southard-Smith EM, Kos L, Pavan WJ (1998) Sox10 mutation disrupts neural crest
development in Dom Hirschsprung mouse model. Nat Genet 18:60-64.
Spallone A (1987) Stickler's syndrome: A study of 12 families. Br J Ophthalmol
71:504-509.
Spicer SS, Schulte BA (1998) Evidence for a medial K+ recycling pathway from
inner hair cells. Hear Res 118:1-12.
Spicer SS, Schulte BA (1996) The fine structure of spiral ligament cells relates
to ion return to the stria and varies with place-frequency. Hear Res 100:80-
100.
Spranger J, Winterpacht A, Zabel B (1994) The type II collagenopathies: A spec-
trum of chondrodysplasias. Eur J Pediatr 153:56-65.
Steel KP, Barkway C, Bock GR (1987) Strial dysfunction in mice with cochleo-
saccular abnormalities. Hear Res 27:11-26.
Steel KP, Bock GR (1983) Hereditary inner-ear abnormalities in animals. Rela-
tionships with human abnormalities. Arch Otolaryngol 109:22-29.
Steel KP, Smith RJ (1992) Normal hearing in Splotch (Sp/+), the mouse homologue
of Waardenburg syndrome type 1. Nat Genet 2:75-79.
Steingrimsson E, Moore KJ, Lamoreux ML, Ferre-D'Amare AR, Burley SK,
Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, et al. (1994)
Molecular basis of mouse microphthalmia (mi) mutations helps explain their
developmental and phenotypic consequences. Nat Genet 8:256-263.
Stickler GB, Pugh DG (1967) Hereditary progressive arthro-ophthalmopathy. II.
Additional observation on vertebral anomalies, a hearing defect and a report of
a similar case. Mayo Clin Proc 42:495-500.
Szymko Y, Matroianni MA, Shotland L, Davis J, Francomano C, Ondrey F, Griffith
A (2000) Auditory phenotype of Stickler syndrome. Association for Research in
Otolaryngology Abstracts 23:217.
Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M,
Miki T, Fex J, Francke U, Arnheiter H (1994) Cloning of MITF, the human
homolog of the mouse microphthalmia gene and assignment to chromosome
3p14.1-p12.3. Hum Mol Genet 3:553-557.
Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M
(1996) A gene for a dominant form of non-syndromic sensorineural deafness
(DFNA11) maps within the region containing the DFNB2 recessive deafness
gene. Hum Mol Genet 5:849-852.
Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992)
Waardenburg's syndrome patients have mutations in the human homologue of
the Pax-3 paired box gene. Nature 355:635-636.
Temple IK (1989) Stickler's syndrome. J Med Genet 26:119-126.
Thalmann I (1993) Collagen of accessory structures of organ of Corti. Connect
Tissue Res 29:191-201.
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