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Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, et al.
(1995) A gene for congenital, recessive deafness DFNB3 maps to the pericen-
tromeric region of chromosome 17. Nature Genet 9:86-91.
Funderburk S, Spence M, Sparkes R (1977) Mental retardation associated with
balanced chromosome rearrangements. Am J Hum Genet 29:136-141.
Gardner R, Sutherland G (1996) Chromosome Abnormalities and Genetic Coun-
seling. New York: Oxford University Press.
Gorlin RJ, Toriello HV, Cohen MM (1995) Hereditary Hearing Loss and Its Syn-
dromes. New York: Oxford University Press.
Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P (1991) Pax-3, a novel
murine DNA binding protein expressed during early neurogenesis. Embo J
10:1135-1147.
Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, et al.
(1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion
17p11.2). Am J Med Genet 62:247-254.
Gu JZ, Wagner MJ, Haan EA, Wells DE (1996) Detection of a megabase deletion
in a patient with Branchio-Oto-Renal syndrome (BOR) and Tricho-Rhino-
Phalangeal syndrome (TRPS): Implications for mapping and cloning the BOR
gene. Genomics 31:201-206.
Haan EA, Hull YJ, White S, Cockington R, Charlton P, Callen DF (1989)
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inher-
ited rearrangement of chromosome 8q. Am J Med Genet 32:490-494.
Harter C, Ripoll C, Lenoir M, Hamel CP, Rebillard G (1999) Expression pattern of
mammalian cochlea outer hair cell (OHC) mRNA: Screening of a rat OHC
cDNA library. DNA Cell Biol 18:1-10.
Heller S, Sheane CA, Javed Z, Hudspeth AJ (1998) Molecular markers for cell types
of the inner ear and candidate genes for hearing disorders. Proc Natl Acad Sci
USA 95:11400-11405.
Hon E, Chapman C, Gunn TR (1995) Family with partial monosomy 10p and
trisomy 10p. Am J Med Genet 56:136-140.
Hong R (1998) The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial
syndrome). Semin Hematol 35:282-290.
Hook E (1980) Rates of 47, +13 and 46 translocation D/13 Patau syndrome in live
births and comparison with rates in fetal deaths at amniocentesis. Am J Hum
Genet 32:849-858.
Hook E, Hammerton J (1997) The frequency of chromosome abnormalities
detected in consecutive newborn studies—differences between studies—results
by sex and severity of phenotypic involvement. In: Hook E, Porter I (eds)
Population Cytogenetics. New York: Academic Press.
Huang B, Ning Y, Lamb A, Sandlin C, Jamehdor M, Ried T, Bartley J (1998) Iden-
tification of an unusual marker chromosome by spectral karyotyping. Am J Med
Genet 80:368-372.
Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y,
Monaco AP, Robinson D, et al. (1994) X-linked mixed deafness (DFN3): Cloning
and characterization of the critical region allows the identification of novel
microdeletions. Hum Mol Genet 3:1151-1154.
Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N (1989)
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
Am J Med Genet 33:505-507.
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