-
1
-
-
0026663506
-
Genetic deafness
-
Reardon, W. Genetic deafness. J. Med Genet. 29, 521-526 (1992)
-
(1992)
J. Med Genet.
, vol.29
, pp. 521-526
-
-
Reardon, W.1
-
3
-
-
0001385507
-
Deaf-mutism and goiter
-
Pendred, V Deaf-mutism and goiter. Lancet 2, 523 (1896)
-
(1896)
Lancet
, vol.2
, pp. 523
-
-
Pendred, V.1
-
4
-
-
84960609245
-
Heredity in simple goiter
-
Brain, W.R. Heredity in simple goiter. Quart. J Med. 20, 303-331 (1927).
-
(1927)
Quart. J Med.
, vol.20
, pp. 303-331
-
-
Brain, W.R.1
-
5
-
-
13344253112
-
Pendred syndrome
-
eds Stephens, S G D , Read, A P. & Martini, A. (Whurr Publications, London, in the press)
-
Reardon, W. & Trembath, R C. Pendred syndrome, in Genetics and Hearing Impairment (eds Stephens, S G D , Read, A P. & Martini, A. (Whurr Publications, London, in the press)
-
Genetics and Hearing Impairment
-
-
Reardon, W.1
Trembath, R.C.2
-
6
-
-
0001079794
-
The syndrome of sporadic goitre and congenital deafness
-
Fraser, G R , Morgans, M E & Trotter, W.R The syndrome of sporadic goitre and congenital deafness. Quart J Med. 29, 279-295 (1960)
-
(1960)
Quart J Med.
, vol.29
, pp. 279-295
-
-
Fraser, G.R.1
Morgans, M.E.2
Trotter, W.R.3
-
7
-
-
0346154518
-
Association of congenital deafness with goiter (Pendred's syndrome); a study of 207 families
-
Fraser, G.R. Association of congenital deafness with goiter (Pendred's syndrome); a study of 207 families. Ann Hum. Genet. 28, 201-249 (1965)
-
(1965)
Ann Hum. Genet.
, vol.28
, pp. 201-249
-
-
Fraser, G.R.1
-
8
-
-
0028086199
-
Clinical and molecular genetics studies in pendred syndrome
-
Billerbeck, A.E.C., Cavaliere, H , Goldberg, A C., Kalil, J. & Medeiros-Neto, G. Clinical and molecular genetics studies in pendred syndrome. Thyroid 4, 279-284 (1994)
-
(1994)
Thyroid
, vol.4
, pp. 279-284
-
-
Billerbeck, A.E.C.1
Cavaliere, H.2
Goldberg, A.C.3
Kalil, J.4
Medeiros-Neto, G.5
-
9
-
-
13344264002
-
Thyroid peroxidase: Evidence for disease gene exclusion in Pendred syndrome
-
in the press
-
Gausden, E et al. Thyroid peroxidase: evidence for disease gene exclusion in Pendred syndrome. Clin. Endocr. (in the press)
-
Clin. Endocr.
-
-
Gausden, E.1
-
10
-
-
0028249690
-
A non-syndromic form of neurosensory, recessive deafness maps to the pencentromeric region of chromosome 13q
-
Guilford, P. et al. A non-syndromic form of neurosensory, recessive deafness maps to the pencentromeric region of chromosome 13q Nature Genet 6, 24-28 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 24-28
-
-
Guilford, P.1
-
11
-
-
0028306509
-
A human gene responsible for neurosensory, non-syndromic, recessive deafness is a candidate homologue of the mouse sh1 gene
-
Guilford, P. et al. A human gene responsible for neurosensory, non-syndromic, recessive deafness is a candidate homologue of the mouse sh1 gene. Hum Mol. Genet. 3, 989-933 (1994).
-
(1994)
Hum Mol. Genet.
, vol.3
, pp. 989-1933
-
-
Guilford, P.1
-
12
-
-
0028836920
-
A gene for congenital, recessive deafness DFNB3 maps to the pericentric region of chromosome 17
-
Friedman, T B. et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentric region of chromosome 17. Nature Genet 9, 86-91 (1995).
-
(1995)
Nature Genet
, vol.9
, pp. 86-91
-
-
Friedman, T.B.1
-
13
-
-
0029086703
-
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
-
Fukushima, K. et al. Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum. Mol Genet 4, 1643-1648 (1995).
-
(1995)
Hum. Mol Genet
, vol.4
, pp. 1643-1648
-
-
Fukushima, K.1
-
14
-
-
0029145428
-
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
-
Baldwin, C T. et al Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol Genet. 4, 1637-1642 (1995)
-
(1995)
Hum. Mol Genet.
, vol.4
, pp. 1637-1642
-
-
Baldwin, C.T.1
-
15
-
-
0028837681
-
A human recessive neurosensory non-syndromic hearing impairment locus is a potemetial homologue of the murine deafness (DN) locus
-
Jain, P K et al. A human recessive neurosensory non-syndromic hearing impairment locus is a potemetial homologue of the murine deafness (DN) locus. Hum. Mol. Genet. 4, 2391-2394 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2391-2394
-
-
Jain, P.K.1
-
16
-
-
0030047197
-
A gene responsible for a sensorineual nonsyndromic recessive deafnes maps to 2p22-23
-
Chaib, H. et al A gene responsible for a sensorineual nonsyndromic recessive deafnes maps to 2p22-23. Hum Mol. Genet. 5, 155-158 (1996).
-
(1996)
Hum Mol. Genet.
, vol.5
, pp. 155-158
-
-
Chaib, H.1
-
17
-
-
0030070163
-
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
-
Veske, A. et al. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 5, 165-168 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 165-168
-
-
Veske, A.1
-
18
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander, E.S. & Botstein, D Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570 (1987).
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
19
-
-
0028240980
-
Chromosome-specific microsatellite sets tor fluorescence-based, semi-automated genome mapping
-
Reed, P.W. et al. Chromosome-specific microsatellite sets tor fluorescence-based, semi-automated genome mapping. Nature Genet. 7, 390-395 (1994).
-
(1994)
Nature Genet.
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
-
20
-
-
0024530511
-
Physical fine mapping of the choroideraemia locus using Xq21 deletions associated with complex syndromes
-
Cremers, F.P.M et al. Physical fine mapping of the choroideraemia locus using Xq21 deletions associated with complex syndromes. Genomics 4, 41-46 (1989).
-
(1989)
Genomics
, vol.4
, pp. 41-46
-
-
Cremers, F.P.M.1
-
21
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G M., Lalouel, J.-M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446 (1984)
-
(1984)
Proc. Natl. Acad. Sci. USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.-M.2
Julier, C.3
Ott, J.4
-
22
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequelibrium between trait loci and one or more polymorphic marker loci
-
Terwilliger, J.D. A powerful likelihood method for the analysis of linkage disequelibrium between trait loci and one or more polymorphic marker loci Am J. Hum Genet. 56, 777-787 (1995)
-
(1995)
Am J. Hum Genet.
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
24
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Guapay, G. et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 7, 246-339 (1994)
-
(1994)
Nature Genet.
, vol.7
, pp. 246-339
-
-
Guapay, G.1
|