Biology Reference
In-Depth Information
Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP (1992) Physical fine
mapping of genes underlying X-linked deafness and non fra(X) X-linked mental
retardation at Xq21. Hum Genet 89:620-624.
Beisel KW, Kennedy JE (1994) Identification of novel alternatively spliced isoforms
of the tropomyosin-encoding gene,
TMnm
, in the rat cochlea. Gene 143:251-
256.
Bowen P, Biederman B, Hoo JJ (1985) The critical segment for the Langer-Giedion
syndrome: 8q24.11-q24.12. Ann Genet 28:224-227.
Buhler EM, Malik NJ (1984) The Tricho-Rhino-Phalangeal syndrome(s): Chromo-
some 8 long arm deletion: Is there a shortest region of overlap between reported
cases? TRP I and TRP II syndromes: Are they separate entities? Am J Med Genet
19:113-119.
Caspersson T, Zech L, Johansson C (1970) Differential banding of alkylating
fluorochromes in human chromosomes. Exp Cell Res 60:315-319.
Chong S, Pack S, Roschke A, Tanigami A, Carrozzo R, Smith A, et al. (1997) A revi-
sion of the lissencephaly and Miller-Dieker syndrome critical region in chromo-
some 17p13.3. Hum Molec Genet 6:147-155.
Conrad B, Higgins R, Pierpont M (1998) Duplication 6q22 Æ qter: definition of the
phenotype. Am J Med Genet 78:123-126.
Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M,
Ropers HH (1989) Physical fine mapping of the choroideremia locus using Xq21
deletions associated with complex syndromes. Genomics 4:41-46.
Crozet F, el Amraoui A, Blanchard S, Lenoir M, Ripoll C, Vago P, Hamel C, et al.
(1997) Cloning of the genes encoding two murine and human cochlear uncon-
ventional type I myosins. Genomics 40:332-341.
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, et
al. (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, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP,
Malcolm S, Pembrey ME, et al. (1995) Association between X-linked mixed deaf-
ness and mutation in the POU domain gene
POU3F4
. Science 267:685-688.
Delatycki M, Gardner R (1997) Three cases of trisomy 13 mosaicism and a review
of the literature. Clin Genet 51:403-407.
Dobyns W, Curry C, Hoyme H, Turlington L, Ledbetter D (1991) Clinical and
molecular diagnosis of Miller-Dieker syndrome. Am J Hum Gene 48:584-594.
Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME (1994) The brain-
specific POU-box gene Brn4 is a sex-linked transcription factor located on the
human and mouse X chromosomes. Mamm Genome 5:180-182.
Drets M, Shaw M (1971) Specific banding patterns in human chromosomes. Proc
Natl Acad Sci USA 68:2073-2077.
Epstein DJ, Vekemans M, Gros P (1991)
splotch
(
Sp
2H
), a mutation affecting
development of the mouse neural tube, shows a deletion within the paired
homeodomain of
Pax3
. Cell 67:767-774.
Ford C, Jones K, Polani P (1959) A sex-chromosome anomaly in a case of gonadal
dysgenesis (Turner syndrome). Lancet ••:711-713.
Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus
for Waardenburg syndrome type I to human chromosome 2q37 and possible
homology to the Splotch mouse. Am J Hum Genet 46:1017-1023.
