Biology Reference
In-Depth Information
Balciuniene J, Dahl N, Borg E, Samuelsson E, Koisti MJ, Pettersson U, Jazin EE
(1998) Evidence for digenic inheritance of nonsyndromic hereditary hearing loss
in a Swedish family. Am J Hum Genet 63:786-793.
Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A (1992) An exonic muta-
tion in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature
355:637-638.
Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK,
Korostishevsky M, Bonne-Tamir B (1995) Linkage of congenital, recessive deaf-
ness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in
the Middle Eastern Druze population. Hum Mol Genet 4:1637-1642.
Barber TD, Barber MC, Cloutier TE, Friedman TB (1999) PAX3 gene structure,
alternative splicing and evolution. Gene 237:311-319.
Bard LA (1978) Heterogeneity in Waardenburg's syndrome. Report of a family with
ocular albinism. Arch Ophthalmol 96:1193-1198.
Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC,
Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the
COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227.
Bauer J, Stein C (1925) Vererbung und Konstitution bei Ohrenkrankheiten. Z Kon-
stitutionslehre 10:483-545.
Belal A, Jr. (1975) Usher's syndrome. (Retinitis pigmentosa and deafness). A tem-
poral bone report. J Laryngol Otol 89:175-181.
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-
Vance MA, Ben Hamida M, Vance JM (1993) Linkage of a locus (CMT4A) for
autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol
Genet 2:1625-1628.
Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP,
Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. (1993) Localization
of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease
type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics
17:370-375.
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW,
Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-
Marie-Tooth disease. Science 262:2039-2042.
Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y,
Olsen BR, Ramirez F (1988) Cloning and sequencing of pro-alpha 1 (XI) colla-
gen cDNA demonstrates that type XI belongs to the fibrillar class of collagens
and reveals that the expression of the gene is not restricted to cartilagenous tissue.
J Biol Chem 263:17159-17166.
Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick
RJ (1989) Fabry disease: Six gene rearrangements and an exonic point mutation
in the alpha-galactosidase gene. J Clin Invest 83:1390-1399.
Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel
J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S (1997) Endothelin-3 gene
mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet
5:247-251.
Bitner-Glindzicz M, Turnpenny P, Hoglund P, Kaariainen H, Sankila EM, van der
Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. (1995) Further
mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness,
DFN3. Hum Mol Genet 4:1467-1469.
