-
1
-
-
0029658562
-
The Réunion paradox and the digenic model
-
Beckmann JS (1996) The Réunion paradox and the digenic model. Am J Hum Genet 59:1400-1402
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1400-1402
-
-
Beckmann, J.S.1
-
2
-
-
19144367177
-
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100
-
Benlian P, de Gennes JL, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde JP, et al (1996) Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. Hum Mutat 7:340-345
-
(1996)
Hum Mutat
, vol.7
, pp. 340-345
-
-
Benlian, P.1
De Gennes, J.L.2
Dairou, F.3
Hermelin, B.4
Ginon, I.5
Villain, E.6
Lagarde, J.P.7
-
3
-
-
0030796428
-
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p
-
Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, et al (1997) New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Am J Med Genet 71:467-471
-
(1997)
Am J Med Genet
, vol.71
, pp. 467-471
-
-
Chen, A.1
Wayne, S.2
Bell, A.3
Ramesh, A.4
Srisailapathy, C.R.5
Scott, D.A.6
Sheffield, V.C.7
-
4
-
-
0029988255
-
A metric map of humans: 23,500 loci in 850 bands
-
Collins A, Frezal J, Teague J, Morton NE (1996) A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 93:14771-14775
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 14771-14775
-
-
Collins, A.1
Frezal, J.2
Teague, J.3
Morton, N.E.4
-
6
-
-
0028101878
-
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
-
Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, et al (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 331:425-431
-
(1994)
N Engl J Med
, vol.331
, pp. 425-431
-
-
Coucke, P.1
Van Camp, G.2
Djoyodiharjo, B.3
Smith, S.D.4
Frants, R.R.5
Padberg, G.W.6
Darby, J.K.7
-
7
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, et al (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
Huber, I.4
Monaco, A.P.5
Malcolm, S.6
Pembrey, M.E.7
-
8
-
-
10144238527
-
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
-
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
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1229-1235
-
-
De Kok, Y.J.1
Vossenaar, E.R.2
Cremers, C.W.3
Dahl, N.4
Laporte, J.5
Hu, L.J.6
Lacombe, D.7
-
9
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
10
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
-
Estivill X, Govea N, Barceló E, Perelló E, Badenas C, Romero E, Moral L, et al (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62:27-35
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barceló, E.3
Perelló, E.4
Badenas, C.5
Romero, E.6
Moral, L.7
-
11
-
-
0001681514
-
Genetic hearing loss with no associated abnormalities
-
Gorlin RJ, Toriello HV, Cohen MM (eds) Oxford University Press, Oxford
-
Gorlin RJ (1995) Genetic hearing loss with no associated abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM (eds) Hereditary hearing loss and its syndromes. Oxford University Press, Oxford, pp 43-61
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 43-61
-
-
Gorlin, R.J.1
-
12
-
-
0032554570
-
Deafness due to Pro250Arg mutation of FGFR3
-
Hollway GE, Suthers GK, Battese KM, Turner AM, David DJ, Mulley JC (1998) Deafness due to Pro250Arg mutation of FGFR3. Lancet 351:877-878
-
(1998)
Lancet
, vol.351
, pp. 877-878
-
-
Hollway, G.E.1
Suthers, G.K.2
Battese, K.M.3
Turner, A.M.4
David, D.J.5
Mulley, J.C.6
-
13
-
-
0031418573
-
Mitochondrial deafness
-
Jacobs HT (1997) Mitochondrial deafness. Ann Med 29: 483-491
-
(1997)
Ann Med
, vol.29
, pp. 483-491
-
-
Jacobs, H.T.1
-
14
-
-
0019295852
-
Metabolic interference and the +-heterozygote: A hypothetical form of simple inheritance which is neither dominant nor recessive
-
Johnson WG (1980) Metabolic interference and the +-heterozygote: a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet 32: 374-386
-
(1980)
Am J Hum Genet
, vol.32
, pp. 374-386
-
-
Johnson, W.G.1
-
15
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-1608
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
16
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, et al (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387: 80-83
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
-
17
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215-217
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
Desmukh, D.4
Friedman, T.B.5
Green, E.D.6
Wilcox, E.R.7
-
18
-
-
0030473252
-
Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: Evaluation of their utility in pathology and forensics
-
Lindqvist AK, Magnusson PK, Balciuniene J, Wadelius C, Lindholm E, Alarcon-Riquelme ME, Gyllensten UB (1996) Chromosome-specific panels of tri-and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics. Genome Res 6:1170-1176
-
(1996)
Genome Res
, vol.6
, pp. 1170-1176
-
-
Lindqvist, A.K.1
Magnusson, P.K.2
Balciuniene, J.3
Wadelius, C.4
Lindholm, E.5
Alarcon-Riquelme, M.E.6
Gyllensten, U.B.7
-
19
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997a) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16: 188-190
-
(1997)
Nat Genet
, vol.16
, pp. 188-190
-
-
Liu, X.Z.1
Walsh, J.2
Mburu, P.3
Kendrick-Jones, J.4
Cope, M.J.5
Steel, K.P.6
Brown, S.D.7
-
20
-
-
0031278277
-
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIa gene
-
Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997b) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268-269
-
(1997)
Nat Genet
, vol.17
, pp. 268-269
-
-
Liu, X.Z.1
Walsh, J.2
Tamagawa, Y.3
Kitamura, K.4
Nishizawa, M.5
Steel, K.P.6
Brown, S.D.7
-
21
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the drosophila gene diaphanous
-
Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the drosophila gene diaphanous. Science 278:1315-1318
-
(1997)
Science
, vol.278
, pp. 1315-1318
-
-
Lynch, E.D.1
Lee, M.K.2
Morrow, J.E.3
Welcsh, P.L.4
Leon, P.E.5
King, M.C.6
-
22
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr (1997) Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 6:659-664
-
(1997)
Hum Mol Genet
, vol.6
, pp. 659-664
-
-
Morell, R.1
Spritz, R.A.2
Ho, L.3
Pierpont, J.4
Guo, W.5
Friedman, T.B.6
Asher Jr., J.H.7
-
23
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
24
-
-
0032477782
-
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect
-
Nye JS, Balkin N, Lucas H, Knepper PA, McLone DG, Charrow J (1998) Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. Am J Med Genet 75:401-408
-
(1998)
Am J Med Genet
, vol.75
, pp. 401-408
-
-
Nye, J.S.1
Balkin, N.2
Lucas, H.3
Knepper, P.A.4
McLone, D.G.5
Charrow, J.6
-
25
-
-
0029807805
-
Genes responsible for human hereditary deafness: Symphony of a thousand
-
Petit C (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 14:385-391
-
(1996)
Nat Genet
, vol.14
, pp. 385-391
-
-
Petit, C.1
-
26
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, et al (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
-
28
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, et al (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950-1954
-
(1998)
Science
, vol.279
, pp. 1950-1954
-
-
Vahava, O.1
Morell, R.2
Lynch, E.D.3
Weiss, S.4
Kagan, M.E.5
Ahituv, N.6
Morrow, J.E.7
-
29
-
-
0031127215
-
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
-
Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, et al (1997a) Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics 41:70-74
-
(1997)
Genomics
, vol.41
, pp. 70-74
-
-
Van Camp, G.1
Coucke, P.J.2
Kunst, H.3
Schatteman, I.4
Van Velzen, D.5
Marres, H.6
Van Ewijk, M.7
-
30
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJH (1997b) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 60:758-764
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.H.3
-
31
-
-
0029045522
-
A foundation for limb-girdle muscular dystrophy
-
van Ommen GJ (1995) A foundation for limb-girdle muscular dystrophy. Nat Med 1:412-414
-
(1995)
Nat Med
, vol.1
, pp. 412-414
-
-
Van Ommen, G.J.1
-
32
-
-
16944362940
-
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
-
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer E, et al (1997) A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am J Hum Genet 60: 1168-1173
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1168-1173
-
-
Verhoeven, K.1
Van Camp, G.2
Govaerts, P.J.3
Balemans, W.4
Schatteman, I.5
Verstreken, M.6
Van Laer, E.7
-
33
-
-
17344364928
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven K, Van Laer E, Kirschhofer K, Eegan PK, Hughes DC, Schatteman I, Verstreken M, et al (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19:60-62
-
(1998)
Nat Genet
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Laer, E.2
Kirschhofer, K.3
Eegan, P.K.4
Hughes, D.C.5
Schatteman, I.6
Verstreken, M.7
-
34
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, et al (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193
-
(1997)
Nat Genet
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
Levy, G.4
Levi-Acobas, F.5
Drira, M.6
Ayadi, H.7
-
35
-
-
0029845713
-
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
-
Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59:872-878
-
(1996)
Am J Hum Genet
, vol.59
, pp. 872-878
-
-
Weiler, T.1
Greenberg, C.R.2
Nylen, E.3
Halliday, W.4
Morgan, K.5
Eggertson, D.6
Wrogemann, K.7
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