-
2
-
-
0029807805
-
Genes responsible for human hereditary deafness: Symphony of a thousand
-
Petit, C. (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nature Genet. 14, 385-391.
-
(1996)
Nature Genet.
, vol.14
, pp. 385-391
-
-
Petit, C.1
-
4
-
-
0000148999
-
A note on deaf mutism
-
Chung, C.S., Robison, O.W. and Morton, N.E. (1959) A note on deaf mutism. Ann. Hum. Genet. 23, 357-366.
-
(1959)
Ann. Hum. Genet.
, vol.23
, pp. 357-366
-
-
Chung, C.S.1
Robison, O.W.2
Morton, N.E.3
-
5
-
-
0028249690
-
A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
Guilford, P., Ben Arab, S., Blanchard, S., Levilliers, J., Weissenbach, J., Belkahia, A. and Petit, C. (1994) A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet. 6, 24-28.
-
(1994)
Nature Genet.
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Ben Arab, S.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
Petit, C.7
-
6
-
-
0028306509
-
A human gene responsible for neurosensory non-syndromic deafness is a candidate homologue of the mouse sh-1 gene
-
Guilford, P., Ayadi, H., Blanchard, S., Chaïb, H., Le Paslier, D., Weissenbach, J., Drira, M. and Petit, C. (1994) A human gene responsible for neurosensory non-syndromic deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989-993.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 989-993
-
-
Guilford, P.1
Ayadi, H.2
Blanchard, S.3
Chaïb, H.4
Le Paslier, D.5
Weissenbach, J.6
Drira, M.7
Petit, C.8
-
7
-
-
0028836920
-
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
-
Friedman,T.B., Liang, Y., Weber, J.L., Hinnant, J.T., Barber, T.D., Winata, S., Arhya, I.N. and Asher, Jr., J.H. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet. 9, 86-91.
-
(1995)
Nature Genet.
, vol.9
, pp. 86-91
-
-
Friedman, T.B.1
Liang, Y.2
Weber, J.L.3
Hinnant, J.T.4
Barber, T.D.5
Winata, S.6
Arhya, I.N.7
Asher Jr., J.H.8
-
8
-
-
0029145428
-
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
-
Baldwin, C. T., Weiss, S., Farrer, L.A., De Stefano, A.L., Adair, R., Franklyn, B., Kidd, K.K., Korostishevsky, M. and Bonné-Tamir, B. (1995) 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)
Hum. Mol. Genet.
, vol.4
, pp. 1637-1642
-
-
Baldwin, C.T.1
Weiss, S.2
Farrer, L.A.3
De Stefano, A.L.4
Adair, R.5
Franklyn, B.6
Kidd, K.K.7
Korostishevsky, M.8
Bonné-Tamir, B.9
-
9
-
-
0029086703
-
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
-
Fukushima, K., Ramesh, A., Srisailapathy, C.R.S., Ni, L., Chen, A., O'Neill, M., VanCamp, G., Coucke, P., Smith, S.D., Kenyon, J.B., Jain, P., Wilcox, E.R., Zbar, R.I.S. and Smith, R.J.H. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum. Mol. Genet. 4, 1643-1648.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1643-1648
-
-
Fukushima, K.1
Ramesh, A.2
Srisailapathy, C.R.S.3
Ni, L.4
Chen, A.5
O'Neill, M.6
VanCamp, G.7
Coucke, P.8
Smith, S.D.9
Kenyon, J.B.10
Jain, P.11
Wilcox, E.R.12
Zbar, R.I.S.13
Smith, R.J.H.14
-
10
-
-
0028862795
-
An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6
-
Fukushima, K., Ramesh, A., Srisailapathy, C.R.S., Ni, L., Wayne, S., O'Neill, M.E., Van Camp, G., Coucke, P., Jain, P., Wilcox, E.R., Smith, S.D., Kenyon, J.B., Zbar, R.I.S. and Smith, R.J.H. (1995) An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res. 5, 305-308.
-
(1995)
Genome Res.
, vol.5
, pp. 305-308
-
-
Fukushima, K.1
Ramesh, A.2
Srisailapathy, C.R.S.3
Ni, L.4
Wayne, S.5
O'Neill, M.E.6
Van Camp, G.7
Coucke, P.8
Jain, P.9
Wilcox, E.R.10
Smith, S.D.11
Kenyon, J.B.12
Zbar, R.I.S.13
Smith, R.J.H.14
-
11
-
-
0028837681
-
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus
-
Jain, P.K., Fukushima, K., Deshmukh, D., Ramesh, A., Thomas, E., Lalwani, A.K., Kumar, S., Ploplis, B., Skarka. H., Srisailapathy, C.R.S., Wayne, S., Zbar, R.I.S., Verma, I.C., Smith, R.J.H. and Wilcox, E.R. (1995) A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. mol. Genet. 4, 2391-2394.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2391-2394
-
-
Jain, P.K.1
Fukushima, K.2
Deshmukh, D.3
Ramesh, A.4
Thomas, E.5
Lalwani, A.K.6
Kumar, S.7
Ploplis, B.8
Skarka, H.9
Srisailapathy, C.R.S.10
Wayne, S.11
Zbar, R.I.S.12
Verma, I.C.13
Smith, R.J.H.14
Wilcox, E.R.15
-
12
-
-
0029811339
-
An autosomal recessive non-syndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
-
Scott, D.A., Carmi, R., Khalil, E., Yosefsberg, S., Stone, E.M. and Sheffield, V.C. (1996) An autosomal recessive non-syndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59, 385-391.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 385-391
-
-
Scott, D.A.1
Carmi, R.2
Khalil, E.3
Yosefsberg, S.4
Stone, E.M.5
Sheffield, V.C.6
-
13
-
-
0030070163
-
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
-
Veske, A., Oehlmann, R., Younus, F., Mohyuddin, A., Müller-Myhsok, B., Mehdi, S.Q. and Gal, A. (1996) 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)
Hum. Mol. Genet.
, vol.5
, pp. 165-168
-
-
Veske, A.1
Oehlmann, R.2
Younus, F.3
Mohyuddin, A.4
Müller-Myhsok, B.5
Mehdi, S.Q.6
Gal, A.7
-
14
-
-
0029883986
-
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
-
Bonné-Tamir, B., De Stefano, A.L., Briggs, C.E., Adair, R., Franklyn, B., Weiss, S., Korostishevsky, M., Frydman, M., Baldwin, C.T. and Farrer, L.A. (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am. J. Hum. Genet. 58, 1254-1259.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1254-1259
-
-
Bonné-Tamir, B.1
De Stefano, A.L.2
Briggs, C.E.3
Adair, R.4
Franklyn, B.5
Weiss, S.6
Korostishevsky, M.7
Frydman, M.8
Baldwin, C.T.9
Farrer, L.A.10
-
15
-
-
0030047197
-
A gene responsible for sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23
-
Chaïb, H., Place, C., Salem, N., Chardenoux, S., Vincent, C., Weissenbach, J., El-Zir, E., Loiselet, J. and Petit, C. (1996) A gene responsible for sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum. Mol. Genet. 5, 155-158.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 155-158
-
-
Chaïb, H.1
Place, C.2
Salem, N.3
Chardenoux, S.4
Vincent, C.5
Weissenbach, J.6
El-Zir, E.7
Loiselet, J.8
Petit, C.9
-
16
-
-
0030054738
-
Mapping of DFNB12, a gene for non-syndromal autosomal recessive deafness, to chromosome 10q21-22
-
Chaïb, H., Place, C., Salem, N., Dod, C., Chardenoux, S., Weissenbach, J., El-Zir, E., Loiselet, J. and Petit, C. (1996) Mapping of DFNB12, a gene for non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum. Mol. Genet. 5, 1061-1064.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1061-1064
-
-
Chaïb, H.1
Place, C.2
Salem, N.3
Dod, C.4
Chardenoux, S.5
Weissenbach, J.6
El-Zir, E.7
Loiselet, J.8
Petit, C.9
-
17
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell, D.P., Dunlop J., Stevens, H.P., Lench, N.J., Liang, J.N., Parry, G., Mueller, R.F. and Leigh, I.M. (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
Leigh, I.M.8
-
18
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M.J.T.V, Steel, K.P. and Brown, S.D.M. (1997) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genet. 16, 188-190.
-
(1997)
Nature Genet.
, vol.16
, pp. 188-190
-
-
Liu, X.-Z.1
Walsh, J.2
Mburu, P.3
Kendrick-Jones, J.4
Cope, M.J.T.V.5
Steel, K.P.6
Brown, S.D.M.7
-
19
-
-
0026541187
-
Four novel members of the connexin family of gap junction proteins: Molecular cloning, expression, and chromosome mapping
-
Haefliger, J.-A., Bruzzone, R., Jenkins N.A., Gilbert, D.J., Copeland, N.G. and Paul, D.L. (1992) Four novel members of the connexin family of gap junction proteins: molecular cloning, expression, and chromosome mapping. J. Biol. Chem. 267, 2057-2064.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 2057-2064
-
-
Haefliger, J.-A.1
Bruzzone, R.2
Jenkins, N.A.3
Gilbert, D.J.4
Copeland, N.G.5
Paul, D.L.6
-
21
-
-
0029162902
-
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel
-
Scott, D.A., Carmi, R., Elbedour, K., Duyk, G.M., Stone, E.M. and Sheffield V.C. (1995) Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am. J. Hum. Genet. 57, 965-968.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 965-968
-
-
Scott, D.A.1
Carmi, R.2
Elbedour, K.3
Duyk, G.M.4
Stone, E.M.5
Sheffield, V.C.6
-
22
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. and Lander, E.S. (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am. J. Genet. 58, 1347-1363.
-
(1996)
Am. J. Genet.
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
23
-
-
0026646956
-
Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines
-
Lee, S.W., Tomasetto, C., Paul, D., Keyomarsi, K. and Sager, R. (1992) Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines. J. Cell Biol. 118, 1213-1221.
-
(1992)
J. Cell Biol.
, vol.118
, pp. 1213-1221
-
-
Lee, S.W.1
Tomasetto, C.2
Paul, D.3
Keyomarsi, K.4
Sager, R.5
-
24
-
-
0028069130
-
Identity-by-descent and association mapping of a recessive gene for Hirschprung disease on human chromosome 13q22
-
Puffenberger, E.G., Kauffman, E.R., Bolk, S., Matisse, T.C., Washington, S.S., Angrist, M., Weissenbach, J., Garver, K.L., Mascari, M., Ladda, R., Slaugenhaupt, S.A. and Chakravarti, A. (1994) Identity-by-descent and association mapping of a recessive gene for Hirschprung disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217-1225.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1217-1225
-
-
Puffenberger, E.G.1
Kauffman, E.R.2
Bolk, S.3
Matisse, T.C.4
Washington, S.S.5
Angrist, M.6
Weissenbach, J.7
Garver, K.L.8
Mascari, M.9
Ladda, R.10
Slaugenhaupt, S.A.11
Chakravarti, A.12
-
25
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschprung's disease
-
Puffenberger, E.G., Hosoda, K., Washington, S.S., Nakao, K., deWit, D., Yanagisawa, M. and Chakravarti, A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschprung's disease. Cell 79, 1257-1266.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
Nakao, K.4
DeWit, D.5
Yanagisawa, M.6
Chakravarti, A.7
-
26
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A. and Lander, E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet. 2, 204-211.
-
(1992)
Nature Genet.
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
Lander, E.6
-
27
-
-
4243583340
-
Multipoint linkage disequilibrium mapping using ancestral recombinants
-
Lynn, A.M., Puffenberger, E.G., Kashuk, C. and Chakravarti, A. (1995) Multipoint linkage disequilibrium mapping using ancestral recombinants. Am. J. Hum. Genet. 57, A27.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Lynn, A.M.1
Puffenberger, E.G.2
Kashuk, C.3
Chakravarti, A.4
-
28
-
-
0027379866
-
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area
-
Bach, G., Moskowitz, S.M., Tieu, P.T., Matynia, A. and Neufeld, E.F. (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am. J. Hum. Genet. 53, 330-338.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 330-338
-
-
Bach, G.1
Moskowitz, S.M.2
Tieu, P.T.3
Matynia, A.4
Neufeld, E.F.5
-
29
-
-
0028794623
-
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
-
Heinisch, U., Zlotogoro, J., Kafert, S. and Gieselmann, V. (1995) Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am. J. Hum. Genet. 56, 51-57.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 51-57
-
-
Heinisch, U.1
Zlotogoro, J.2
Kafert, S.3
Gieselmann, V.4
-
30
-
-
0029655863
-
Multiple mutations in a specific gene in a small geographic area: A common phenomenon?
-
Zlotogora, J., Gieselmann, V. and Bach, G. (1996) Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am. J. Hum. Genet. 58, 241-243.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 241-243
-
-
Zlotogora, J.1
Gieselmann, V.2
Bach, G.3
-
31
-
-
0026657630
-
Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community
-
Jaber, L., Merlob, P., Bu, X., Rotter, J.I. and Shohat, M. (1992) Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community. Am. J. Med. Genet. 44, 1-6.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 1-6
-
-
Jaber, L.1
Merlob, P.2
Bu, X.3
Rotter, J.I.4
Shohat, M.5
-
32
-
-
0001122789
-
The distribution of gene ratios for rare mutations
-
Fisher, R.A. (1930) The distribution of gene ratios for rare mutations. Proc. Roy. Soc. Edinburgh 50, 205-220.
-
(1930)
Proc. Roy. Soc. Edinburgh
, vol.50
, pp. 205-220
-
-
Fisher, R.A.1
-
33
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L. Govea, N., Milá, M., Della Monica, M., Lufti, J., Shohat, M., Mansfield, E., Delgrosso, K., Rappaport, E., Surrey, S., and Fortina, P. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6, 1605-1609.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Milá, M.7
Della Monica, M.8
Lufti, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
34
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
35
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446.
-
(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
-
36
-
-
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., Millaseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J. and Weissenbach, J. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, suppl.
-
(1996)
Nature
, vol.380
, Issue.SUPPL.
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millaseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
37
-
-
9844223106
-
-
New York
-
Warburton, D., Shaw, S.H., Matice, T.C., Kalchikov, S. and Fischer, S. (1995) Third International Workshop on Human Chromosome 13 Mapping Tarrytown, New York.
-
(1995)
Third International Workshop on Human Chromosome 13 Mapping Tarrytown
-
-
Warburton, D.1
Shaw, S.H.2
Matice, T.C.3
Kalchikov, S.4
Fischer, S.5
-
38
-
-
0001685652
-
Mapping of the cystic fibrosis gene using putative ancestral recombinants
-
Cox, T.K., Kerem , B., Rommens, J., Iannuzzi, M.C., Drumm, M., Collins, F.S., Dean, M., Tsui, L.-C. and Chakravarti, A. (1989) Mapping of the cystic fibrosis gene using putative ancestral recombinants. Am. J. Hum. Genet. 45. A136.
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(1989)
Am. J. Hum. Genet.
, vol.45
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Cox, T.K.1
Kerem, B.2
Rommens, J.3
Iannuzzi, M.C.4
Drumm, M.5
Collins, F.S.6
Dean, M.7
Tsui, L.-C.8
Chakravarti, A.9
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