-
1
-
-
0001601125
-
A salt wasting syndrome in infancy
-
Cheek, D.B. and Perry, J.W. (1958) A salt wasting syndrome in infancy. Arch. Dis Child 33, 252-256.
-
(1958)
Arch. Dis Child
, vol.33
, pp. 252-256
-
-
Cheek, D.B.1
Perry, J.W.2
-
3
-
-
0025789561
-
Type 1 pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
-
Hanukoglu, A. (1991) Type 1 pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J. Clin. Endocrinol. Metab. 73, 936-944.
-
(1991)
J. Clin. Endocrinol. Metab.
, vol.73
, pp. 936-944
-
-
Hanukoglu, A.1
-
4
-
-
0028472194
-
Editorial: The enigma of pseudohypoaldosteronism
-
Corvol, P. (1994) Editorial: the enigma of pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 79, 25-26.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.79
, pp. 25-26
-
-
Corvol, P.1
-
5
-
-
0025305359
-
Pseudohypoaldosteronism in eight families: Different forms of inheritance are evident for various genetic defects
-
Kuhnle, U., Nielsen, M.D., Tietze, H.-U., Schroeter, C.H., Schlamp, D., Bosson, D., Knorr, D. and Armanini, D. (1990) Pseudohypoaldosteronism in eight families: different forms of inheritance are evident for various genetic defects. J. Clin. Endocrinol. Metab. 70, 638-641.
-
(1990)
J. Clin. Endocrinol. Metab.
, vol.70
, pp. 638-641
-
-
Kuhnle, U.1
Nielsen, M.D.2
Tietze, H.-U.3
Schroeter, C.H.4
Schlamp, D.5
Bosson, D.6
Knorr, D.7
Armanini, D.8
-
6
-
-
0023221667
-
Cloning of the human mineralocorticoid receptor complementary DNA: Structural and functional kinship with the glucocorticoid receptor
-
B.L., H.
-
Arriza, J.L., Weinberger, C., Cerelli, G., Glaser, T.M., B.L., H., Housman, D.E. and Evans, R.M. (1987) Cloning of the human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 237, 268-275
-
(1987)
Science
, vol.237
, pp. 268-275
-
-
Arriza, J.L.1
Weinberger, C.2
Cerelli, G.3
Glaser, T.M.4
Housman, D.E.5
Evans, R.M.6
-
7
-
-
84995865420
-
No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism
-
Zennaro, M.-C., Borensztein, P., Jeunemaitre, X., Armanini, D. and Soubrier, F. (1994) No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 79, 32-38.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.79
, pp. 32-38
-
-
Zennaro, M.-C.1
Borensztein, P.2
Jeunemaitre, X.3
Armanini, D.4
Soubrier, F.5
-
8
-
-
84995868875
-
Pseudohypoaldosteronism: Molecular characterisation of the mineralocorticoid receptor
-
Komesaroff, P.A., Verity, K. and Fuller, P.J. (1994) Pseudohypoaldosteronism: molecular characterisation of the mineralocorticoid receptor. J. Clin. Endocrinol. Metab. 79, 27-31.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.79
, pp. 27-31
-
-
Komesaroff, P.A.1
Verity, K.2
Fuller, P.J.3
-
9
-
-
0028913827
-
No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism
-
Arai, K., Tsigos, C., Suzuki, Y., Listwak, S , Zachman, K., Zangeneh, F., Rapaport, R., Chanoine, J.-P. and Chrousos, G P. (1995) No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 80, 814-817.
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 814-817
-
-
Arai, K.1
Tsigos, C.2
Suzuki, Y.3
Listwak, S.4
Zachman, K.5
Zangeneh, F.6
Rapaport, R.7
Chanoine, J.-P.8
Chrousos, G.P.9
-
10
-
-
0028825140
-
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism Type I from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis
-
Chung, E., Hanukoglu, A., Rees, M., Thompson, R., Dillon, M., Hanukoglu, I., Bistritzer, T , Kuhnle, U., Seckl, J. and Gardiner, R.M. (1995) Exclusion of the locus for autosomal recessive pseudohypoaldosteronism Type I from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. J. Clin. Endocrinol. Metab. 80, 3341-3345.
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 3341-3345
-
-
Chung, E.1
Hanukoglu, A.2
Rees, M.3
Thompson, R.4
Dillon, M.5
Hanukoglu, I.6
Bistritzer, T.7
Kuhnle, U.8
Seckl, J.9
Gardiner, R.M.10
-
11
-
-
0000655012
-
The detection of linkage in human genetics
-
Smith, C. (1953) The detection of linkage in human genetics. J. Royal Stat. Soc. B. 15, 153-184.
-
(1953)
J. Royal Stat. Soc. B.
, vol.15
, pp. 153-184
-
-
Smith, C.1
-
12
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander, E S. and Botstein, D. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
13
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
Ben Hamida, C.B., Doerflinger, N., Belal, S., Linder, C., Reutenauer, L., Dib, C., Gyapay, G., Vignal, A., Le Paslier, D., Cohen, D., Pandolfo, M., Mokini, V., Novelli, G., Hentati, F., Ben Hamida, M., Mandel, J.-L. and Koenig, M. (1993) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nature Genet. 5, 195-200.
-
(1993)
Nature Genet.
, vol.5
, pp. 195-200
-
-
Ben Hamida, C.B.1
Doerflinger, N.2
Belal, S.3
Linder, C.4
Reutenauer, L.5
Dib, C.6
Gyapay, G.7
Vignal, A.8
Le Paslier, D.9
Cohen, D.10
Pandolfo, M.11
Mokini, V.12
Novelli, G.13
Hentati, F.14
Ben Hamida, M.15
Mandel, J.-L.16
Koenig, M.17
-
14
-
-
0027942323
-
Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
-
Houwen, R.H.J., Barharloo, S., Blankenship, K., Racymaekers, P., Juyn, J., Sandkuijl, L.A. and Freimer, N.B. (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genet. 8, 380-386.
-
(1994)
Nature Genet.
, vol.8
, pp. 380-386
-
-
Houwen, R.H.J.1
Barharloo, S.2
Blankenship, K.3
Racymaekers, P.4
Juyn, J.5
Sandkuijl, L.A.6
Freimer, N.B.7
-
15
-
-
0027366933
-
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
-
Pollak, M.R., Wu Chou, Y.-H., Cerda, J.J., Steinmann, B., La Du, B., Seidman, J.G. and Seidman, C.E. (1993) Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nature Genet. 5, 201-204.
-
(1993)
Nature Genet.
, vol.5
, pp. 201-204
-
-
Pollak, M.R.1
Wu Chou, Y.-H.2
Cerda, J.J.3
Steinmann, B.4
La Du, B.5
Seidman, J.G.6
Seidman, C.E.7
-
16
-
-
0027944117
-
SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12
-
Meisler, M.H , Barrow, L.L., Canessa, C.M. and Rossier, B.C. (1994) SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12. Genomics 24, 185-186.
-
(1994)
Genomics
, vol.24
, pp. 185-186
-
-
Meisler, M.H.1
Barrow, L.L.2
Canessa, C.M.3
Rossier, B.C.4
-
17
-
-
0029097865
-
Cloning, chromosomal localisaiton and physical linkage of the β and γ subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel
-
Voilley, N., Bassilana, F., Mignon, C., Merscher, S., Mattei, M.-G., Carle, G.F., Lazdunski, M and Barbry, P. (1995) Cloning, chromosomal localisaiton and physical linkage of the β and γ subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 28, 560-565.
-
(1995)
Genomics
, vol.28
, pp. 560-565
-
-
Voilley, N.1
Bassilana, F.2
Mignon, C.3
Merscher, S.4
Mattei, M.-G.5
Carle, G.F.6
Lazdunski, M.7
Barbry, P.8
-
18
-
-
0027946089
-
Liddle's Syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
-
Shimkets, R.A., Warnock, D.G , Bositis, C.M., Nelson-Williams, C , Hansson, J.H., Schambelan, M., Gill Jr., J.R., Ulick, S., Milora, R V., Findling, J.W., Canessa, C.M., Rossier, B.C. and Lifton, R.P. (1994) Liddle's Syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 79, 407-414.
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
Nelson-Williams, C.4
Hansson, J.H.5
Schambelan, M.6
Gill Jr., J.R.7
Ulick, S.8
Milora, R.V.9
Findling, J.W.10
Canessa, C.M.11
Rossier, B.C.12
Lifton, R.P.13
-
19
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome
-
Hansson, J.H., Nelson-Williams, C., Suzuki, H., Schild, L., Shimkets, R , Lu, Y., Canessa, C., Iwasaki, T., Rossier, B. and Lifton, R.P. (1995) Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nature Genet. 11, 76-82.
-
(1995)
Nature Genet.
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.5
Lu, Y.6
Canessa, C.7
Iwasaki, T.8
Rossier, B.9
Lifton, R.P.10
-
20
-
-
0028857541
-
Rapid multipoint linkage analysis of recessive traits in nuclear families including homozygosity mapping
-
Kruglyak, L., Daly, M.J. and Lander, E.S. (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families including homozygosity mapping. Am. J. Hum. Genet 56, 519-527.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 519-527
-
-
Kruglyak, L.1
Daly, M.J.2
Lander, E.S.3
-
21
-
-
0026055914
-
Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism
-
Andersson, S., Berman, S.M., Jenkins, E.P. & Russell, S.W. (1991) Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature 354, 159-161.
-
(1991)
Nature
, vol.354
, pp. 159-161
-
-
Andersson, S.1
Berman, S.M.2
Jenkins, E.P.3
Russell, S.W.4
-
22
-
-
0028349072
-
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
-
Weber, A. and Clark, A J.L. (1994) Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum. Mol. Genet. 3, 585-588.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 585-588
-
-
Weber, A.1
Clark, A.J.L.2
-
23
-
-
0028053516
-
Albright's hereditary osteodystrophy
-
Wilson, L.C. and Trembath, R.C. (1995) Albright's hereditary osteodystrophy. J. Med. Genet 31, 779-784.
-
(1995)
J. Med. Genet
, vol.31
, pp. 779-784
-
-
Wilson, L.C.1
Trembath, R.C.2
-
24
-
-
0026774643
-
Regulation of renal epithelial sodium channels
-
Duchatelle, P., Ohara, A., Ling, B.N., Kemendy, A.E., Kokko, K.E , Matsumoto, P.S. and Eaton, D.C. (1992) Regulation of renal epithelial sodium channels. Mol. Cell. Biochem. 114, 27-34.
-
(1992)
Mol. Cell. Biochem.
, vol.114
, pp. 27-34
-
-
Duchatelle, P.1
Ohara, A.2
Ling, B.N.3
Kemendy, A.E.4
Kokko, K.E.5
Matsumoto, P.S.6
Eaton, D.C.7
-
25
-
-
0028275143
-
+ channel are differently regulated by aldosterone
-
+ channel are differently regulated by aldosterone J. Biol. Chem. 269, 13736-13739.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 13736-13739
-
-
Linguelglia, E.1
Renard, S.2
Waldmann, R.3
Voilley, N.4
Chapigny, G.5
Plass, H.6
Lazdunski, M.7
Barbry, P.8
-
26
-
-
0028500689
-
Epithelial sodium channels
-
Rossier, B.C , Canessa, C.M., Schild, L. and Horisberger, J.-D. (1994) Epithelial sodium channels. Curr. Opin. Nephrol. Hypertens. 3, 487-496
-
(1994)
Curr. Opin. Nephrol. Hypertens.
, vol.3
, pp. 487-496
-
-
Rossier, B.C.1
Canessa, C.M.2
Schild, L.3
Horisberger, J.-D.4
-
27
-
-
0028157551
-
A transmembrane domain of the putative channel subunit mec-4 influences mechanotransduction and neurodegeneration in C. elegans
-
Hong, K. and Driscoll, M. (1994) A transmembrane domain of the putative channel subunit mec-4 influences mechanotransduction and neurodegeneration in C. elegans. Nature 367, 412-413.
-
(1994)
Nature
, vol.367
, pp. 412-413
-
-
Hong, K.1
Driscoll, M.2
-
28
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
-
Reed, P.W., Davies, J.L., Copeman, J.B., Bennett, S.T., Palmer, S M., Prichard, L.E., Gough, S.C.L., Kawaguchi, Y., Cordell, H.J., Balfour, K.M., Jenkins, S.C., Powell, E.E., Vignal, A. and Todd, J.A. (1994) Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nature Genet. 7, 390-395.
-
(1994)
Nature Genet.
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copeman, J.B.3
Bennett, S.T.4
Palmer, S.M.5
Prichard, L.E.6
Gough, S.C.L.7
Kawaguchi, Y.8
Cordell, H.J.9
Balfour, K.M.10
Jenkins, S.C.11
Powell, E.E.12
Vignal, A.13
Todd, J.A.14
-
29
-
-
0028133480
-
Report of the second international workshop on human chromosome 12 mapping 1994
-
Kucherlapati, R., Craig, I. and Marynen, P. (1994) Report of the second international workshop on human chromosome 12 mapping 1994. Cytogenet.Cell Genet. 67, 245-276.
-
(1994)
Cytogenet.Cell Genet.
, vol.67
, pp. 245-276
-
-
Kucherlapati, R.1
Craig, I.2
Marynen, P.3
-
30
-
-
0028899692
-
The CEPH consortium linkage map of human chromosome 16
-
Kozman, H.M. Keith, T.P., Donis-Keller, H., White, R.L., Weissenbach, J., Dean, M., Vergnaud, G., Kidd, K , Gusella, J., Royle, N.J., Sutherland, G.R. and Mulley, J.C (1995) The CEPH consortium linkage map of human chromosome 16 Genomics 25, 44-58.
-
(1995)
Genomics
, vol.25
, pp. 44-58
-
-
Kozman, H.M.1
Keith, T.P.2
Donis-Keller, H.3
White, R.L.4
Weissenbach, J.5
Dean, M.6
Vergnaud, G.7
Kidd, K.8
Gusella, J.9
Royle, N.J.10
Sutherland, G.R.11
Mulley, J.C.12
-
31
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay, G., Morissette, J., Vignal, A., Dib, C , Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M. and Weissenbach, J (1994) The 1993-94 Genethon human genetic linkage map. Nature Genet. 7(Special issue), 246-338.
-
(1994)
Nature Genet.
, vol.7
, Issue.SPEC. ISSUE
, pp. 246-338
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
32
-
-
0029151626
-
Isolation and regional assignment of human chromosome 12p cDNAs
-
Baens, M., Aerssens, J., van Zand, K., Van den Berghe, H. and Marynen, P. (1995) Isolation and regional assignment of human chromosome 12p cDNAs. Genamics 29, 44-52.
-
(1995)
Genamics
, vol.29
, pp. 44-52
-
-
Baens, M.1
Aerssens, J.2
Van Zand, K.3
Van Den Berghe, H.4
Marynen, P.5
-
33
-
-
0022919732
-
Linkage probability and its approximate confidence interval under possible heterogeneity
-
Ott, J. (1986) Linkage probability and its approximate confidence interval under possible heterogeneity Genet. Epidemiol. (Suppl 1), 251-257.
-
(1986)
Genet. Epidemiol.
, Issue.1 SUPPL.
, pp. 251-257
-
-
Ott, J.1
|