-
2
-
-
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
-
3
-
-
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., Van Camp, 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
Van Camp, 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
-
4
-
-
0028306509
-
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
-
Guilford, P , Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M. and Petit, C. (1994) A human gene responsible for neurosensory, non-syndromic recessive 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
Chaib, H.4
Le Paslier, D.5
Weissenbach, J.6
Drira, M.7
Petit, C.8
-
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., 4, 24-28.
-
(1994)
Nature Genet.
, vol.4
, 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
-
-
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, J.H. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet., 9, 86-89.
-
(1995)
Nature Genet.
, vol.9
, pp. 86-89
-
-
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, J.H.8
-
7
-
-
0029013276
-
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination
-
Blouin, J.-L., Christie, D.H., Gos, A., Lynn, A., Morris, M.A., Ledbetter, D.H., Chakravara, A. and Antonarakis, S.E. (1995) A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Am. J Hum. Genet., 57, 388-394.
-
(1995)
Am. J Hum. Genet.
, vol.57
, pp. 388-394
-
-
Blouin, J.-L.1
Christie, D.H.2
Gos, A.3
Lynn, A.4
Morris, M.A.5
Ledbetter, D.H.6
Chakravara, A.7
Antonarakis, S.E.8
-
8
-
-
0028936145
-
Report of the fifth international Workshop on human chromosome 21 mapping 1994
-
Shimizu, N., Antonarakis, S.E., Van Broeckhoven, C., Patterson, D , Gardiner, K., Nizetic, D., Creau, N., Delabar, J-M., Korenberg, J., Reeves, R., Doering, J., Chakravati, A., Minoshima, S., Ritter, O. and Cuticchia, J. (1995) Report of the fifth international Workshop on human chromosome 21 mapping 1994 Cytogenet. Cell Genet., 70, 148-164.
-
(1995)
Cytogenet. Cell Genet.
, vol.70
, pp. 148-164
-
-
Shimizu, N.1
Antonarakis, S.E.2
Van Broeckhoven, C.3
Patterson, D.4
Gardiner, K.5
Nizetic, D.6
Creau, N.7
Delabar, J.-M.8
Korenberg, J.9
Reeves, R.10
Doering, J.11
Chakravati, A.12
Minoshima, S.13
Ritter, O.14
Cuticchia, J.15
-
9
-
-
0027933727
-
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-32.1 in an inbred and genetically heterogeneous disease population
-
van Soest, S., van den Born, L.I., Gal, A., Farrar, G.J., Bleeker-Wagemakers, L.M., Westerveld, A., Humphries, P., Sandkuijl, L.A. and Bergen, A.A.B. (1994) Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-32.1 in an inbred and genetically heterogeneous disease population. Genomics, 22, 499-504.
-
(1994)
Genomics
, vol.22
, pp. 499-504
-
-
Van Soest, S.1
Van Den Born, L.I.2
Gal, A.3
Farrar, G.J.4
Bleeker-Wagemakers, L.M.5
Westerveld, A.6
Humphries, P.7
Sandkuijl, L.A.8
Bergen, A.A.B.9
-
10
-
-
0028917492
-
Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan
-
Leutelt, J., Oehlmann, R., Younus, F., van den Born, L.I., Weber, J.L., Denton, M.J., Mehdi, S.Q. and Gal, A. (1995) Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. Clin. Genet., 47, 122-124.
-
(1995)
Clin. Genet.
, vol.47
, pp. 122-124
-
-
Leutelt, J.1
Oehlmann, R.2
Younus, F.3
Van Den Born, L.I.4
Weber, J.L.5
Denton, M.J.6
Mehdi, S.Q.7
Gal, A.8
-
11
-
-
0027236091
-
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22
-
Lehesjoki, A.-E., Koskiniemi, M., Pandolfo, M., Antonelli, A., Kyllerman, M., Wahlstrom, J., Nergardh, A., Burmeister, M., Sistonen, P , Norio, R. and de la Chapelle, A. (1993) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Hum. Mol. Genet., 2, 1229-1234.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1229-1234
-
-
Lehesjoki, A.-E.1
Koskiniemi, M.2
Pandolfo, M.3
Antonelli, A.4
Kyllerman, M.5
Wahlstrom, J.6
Nergardh, A.7
Burmeister, M.8
Sistonen, P.9
Norio, R.10
De La Chapelle, A.11
-
12
-
-
0011941477
-
Familial myoclonus epilepsy associated with deaf-mutism in a family showing other psychobiological abnormalities
-
Latham, A.D. and Munro, T.A. (1937) Familial myoclonus epilepsy associated with deaf-mutism in a family showing other psychobiological abnormalities. Ann. Eugen., 8, 166-175.
-
(1937)
Ann. Eugen.
, vol.8
, pp. 166-175
-
-
Latham, A.D.1
Munro, T.A.2
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