-
2
-
-
0000026508
-
Cystic fibrosis
-
The Metabolic and Molecular Bases of Inherited Disease, 7th ed. (Scriver CR, Beaudet AL, Sly WS, Valle D, Eds.). New York: McGraw-Hill
-
(1995)
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
-
3
-
-
8244257360
-
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations
-
(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1914-1920
-
-
Kerem, E.1
Rave-Harel, N.2
Augarten, A.3
Madgar, I.4
Nissim-Rafinia, M.5
Yahav, Y.6
Goshen, R.7
Bentur, L.8
Rivlin, J.9
Aviram, M.10
Genem, A.11
Chiba-Falek, O.12
Kraemer, M.R.13
Simon, A.14
Branski, D.15
Kerem, B.16
-
4
-
-
0031219150
-
A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
-
(1997)
Pediatrics
, vol.100
-
-
Kerem, E.1
Nissim-Rafinia, M.2
Argaman, Z.3
Augarten, A.4
Bentur, L.5
Klar, A.6
Yahav, Y.7
Szeinberg, A.8
Hiba, O.9
Branski, D.10
Corey, M.11
Kerem, B.12
-
5
-
-
0033028607
-
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
-
(1999)
Nat Genet
, vol.22
, pp. 128-129
-
-
Zielenski, J.1
Corey, M.2
Rozmahel, R.3
Markiewicz, D.4
Aznarez, I.5
Casals, T.6
Larriba, S.7
Mercier, B.8
Cutting, G.R.9
Krebsova, A.10
Macek M., Jr.11
Langfelder-Schwind, E.12
Marshall, B.C.13
DeCelie-Germana, J.14
Claustres, M.15
Palacio, A.16
Bal, J.17
Nowakowska, A.18
Ferec, C.19
Estivill, X.20
Durie, P.21
Tsui, L.-C.22
more..
-
7
-
-
0025241696
-
508)
-
(1990)
N Engl J Med
, vol.323
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, B.3
Rommens, J.4
Markiewicz, D.5
Levison, H.6
Tsui, L.-C.7
Durie, P.8
-
8
-
-
0025609513
-
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
-
(1990)
N Engl J Med
, vol.323
, pp. 1685-1689
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
Tsui, L.-C.4
Kazazian H.H., Jr.5
Antonarakis, S.E.6
-
11
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
Macek M., Jr.2
Davis, C.3
Curristin, S.M.4
Chu, C.-S.5
Graham, C.6
Shrimpton, A.E.7
Cashman, S.M.8
Tsui, L.-C.9
Mickle, J.10
Amos, J.11
Highsmith, W.E.12
Shuber, A.13
Witt, D.R.14
Crystal, R.G.15
Cutting, G.R.16
-
14
-
-
0032975778
-
Clinical and genetic risk factors for cystic fibrosis-related liver disease
-
(1999)
Pediatrics
, vol.103
, pp. 52-57
-
-
Wilschanski, M.1
Rivlin, J.2
Cohen, S.3
Augarten, A.4
Blau, H.5
Aviram, M.6
Bentur, L.7
Springer, C.8
Vila, Y.9
Branski, D.10
Kerem, B.11
Kerem, E.12
-
15
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
White, G.A.6
O'Riordan, C.R.7
Smith, A.E.8
-
18
-
-
0031037337
-
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
-
(1997)
Am J Hum Genet
, vol.60
, pp. 87-94
-
-
Rave-Harel, N.1
Kerem, E.2
Nissim-Rafinia, M.3
Madjar, I.4
Goshen, R.5
Augarten, A.6
Rahat, A.7
Hurwitz, A.8
Darvasi, A.9
Kerem, B.10
-
20
-
-
0029869364
-
In vivo measurements of ion transport in long-living CF mice
-
(1996)
Biochem Biophys Res Commun
, vol.219
, pp. 753-759
-
-
Wilschanski, M.A.1
Rozmahel, R.2
Beharry, S.3
Kent, G.4
Li, C.5
Tsui, L.C.6
Durie, P.7
Bear, C.E.8
-
21
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
Plyte, S.4
Oliver, M.5
Auerbach, W.6
Moore, A.7
Forstner, J.8
Durie, P.9
Nadeau, J.10
Bear, C.11
Tsui, L.-C.12
-
24
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
(1993)
N Engl J Med
, vol.329
, pp. 1308-1313
-
-
-
28
-
-
0030944955
-
HLA class II antigens and T lymphocytes in human nasal epithelial cells. Modulation of the HLA class II gene transcripts by gamma interferon
-
(1997)
Clin Exp Alerg
, vol.27
, pp. 306-314
-
-
Wang, D.1
Levasseur-Acker, G.M.2
Jankowski, R.3
Kanny, G.4
Moneret-Vautrin, D.A.5
Charron, D.6
Lockhart, A.7
Swierczewski, E.8
-
35
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.W.3
Angrist, M.4
Salomon, R.5
Croaker, D.6
Buys, C.H.C.M.7
Lyonnet, S.8
Chakravarti, A.9
-
36
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1381-1386
-
-
Attie, T.1
Pelet, A.2
Edery, P.3
Eng, C.4
Mulligan, L.M.5
Amiel, J.6
Boutrand, L.7
Beldjord, C.8
Nihoul-Fekete, C.9
Munnich, A.10
Ponder, B.A.J.11
Lyonnet, S.12
-
37
-
-
0032956279
-
Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-mb constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?
-
(1999)
Genes Chromosomes Cancer
, vol.25
, pp. 184-190
-
-
Bruder, C.E.G.1
Ichimura, K.2
Blennow, E.3
Ikeuchi, T.4
Yamaguchi, T.5
Yuasa, Y.6
Collins, V.P.7
Dumanski, J.P.8
-
38
-
-
0027405720
-
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
-
(1993)
Cell
, vol.72
, pp. 791-800
-
-
Trofatter, J.A.1
MacCollin, M.M.2
Rutter, J.L.3
Murrel, J.R.4
Duyao, M.P.5
Parry, D.M.6
Eldridge, R.7
Kley, N.8
Menon, A.G.9
Pulaski, K.10
Haase, V.H.11
Ambrose, C.M.12
Munroe, D.13
Bove, C.14
Haines, J.L.15
Martuza, R.L.16
MacDonald, M.E.17
Seizinger, B.R.18
Short, M.P.19
Buckler, A.J.20
Gusella, J.F.21
more..
-
39
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
-
(1993)
Nature
, vol.363
, pp. 515-521
-
-
Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
Sanson, M.4
Zucman, J.5
Marineau, C.6
Hoang-Xuan, K.7
Demczuk, S.8
Desmaze, C.9
Plougastel, B.10
Pulst, S.M.11
Lenoir, G.12
Bijlsma, E.13
Fashold, R.14
Dumanski, J.15
De Jong, P.16
Parry, D.17
Eldridge, R.18
Aurias, A.19
Delattre, O.20
Thomas, G.21
more..
-
40
-
-
0028837397
-
Screening for germ line mutations in the NF2 gene
-
(1995)
Genes Chromosomes Cancer
, vol.12
, pp. 117-127
-
-
Merel, P.1
Hoang-Xuan, K.2
Sanson, M.3
Bijlsma, E.4
Rouleau, G.5
Laurent-Puig, P.6
Pulst, S.7
Baser, M.8
Lenoir, G.9
Sterkers, J.M.10
Philippon, J.11
Resche, F.12
Mautner, V.F.13
Fischer, G.14
Hulsebos, T.15
Aurias, A.16
Delattre, O.17
Thomas, G.18
-
41
-
-
19244362433
-
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
-
(1996)
Am J Hum Genet
, vol.59
, pp. 331-342
-
-
Ruttledge, M.H.1
Andermann, A.A.2
Phelan, C.M.3
Claudio, J.O.4
Han, F.-Y.5
Chretien, N.6
Rangaratnam, S.7
MacCollin, M.8
Short, P.9
Parry, D.10
Michels, V.11
Riccardi, V.M.12
Weksberg, R.13
Kitamura, K.14
Bradburn, J.M.15
Hall, B.D.16
Propping, P.17
Rouleau, G.A.18
-
42
-
-
0029774092
-
Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
-
(1996)
Am J Hum Genet
, vol.59
, pp. 529-539
-
-
Parry, D.M.1
MacCollin, M.M.2
Kaiser-Kupfer, M.I.3
Pulaski, K.4
Nicholson, H.S.5
Bolesta, M.6
Eldridge, R.7
Gusella, J.F.8
-
47
-
-
0030025114
-
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2
-
(1996)
Hum Genet
, vol.97
, pp. 224-227
-
-
Kluwe, L.1
Mautner, V.-F.2
-
48
-
-
0027236088
-
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1215-1220
-
-
Sanson, M.1
Marineau, C.2
Desmaze, C.3
Luthman, M.4
Ruttledge, M.5
Baron, C.6
Narod, S.7
Delattre, O.8
Lenoir, G.9
Thomas, G.10
Aurias, A.11
Rouleau, G.A.12
-
52
-
-
4243311431
-
Adrenal hypoplasias and aplasias
-
The Metabolic and Molecular Bases of Inherited Disease, 8th ed. (Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, Eds.). New York: McGraw-Hill
-
(2000)
, pp. 167
-
-
McCabe, E.R.B.1
-
54
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
Strom, T.M.4
Guioli, S.5
Guo, W.6
Lalli, E.7
Moser, C.8
Walker, A.P.9
McCabe, E.R.B.10
Meitinger, T.11
Monaco, A.P.12
Sassone-Corsi, P.13
Camerino, G.14
-
55
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
Zanaria, E.4
Recan, D.5
Meindl, A.6
Bardoni, B.7
Guiolo, S.8
Zehetner, G.9
Rabl, W.10
Schwarz, H.P.11
Kaplan, J.-C.12
Camerino, G.13
Meitinger, T.14
Monaco, A.P.15
-
56
-
-
0029145658
-
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
-
(1995)
JAMA
, vol.274
, pp. 324-330
-
-
Guo, W.1
Mason, J.S.2
Stone C.G., Jr.3
Morgan, S.A.4
Madu, S.I.5
Baldini, A.6
Lindsay, E.A.7
Biesecker, L.G.8
Copeland, K.C.9
Horlick, M.N.B.10
Pettigrew, A.L.11
Zanaria, E.12
McCabe, E.R.B.13
-
57
-
-
0028351214
-
SRVX, a sex reversing locus in Xp21.2 to p22.11
-
(1994)
Hum Genet
, vol.93
, pp. 389-393
-
-
Arn, P.1
Chen, H.2
Tuck-Muller, C.M.3
Mankinen, C.4
Wachtel, G.5
Li, S.6
Shen, C.-C.7
Wachtel, S.S.8
-
58
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
(1994)
Nat Genet
, vol.7
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
Floridia, G.4
Worley, K.C.5
Tonini, G.6
Ferrante, E.7
Chiumello, G.8
McCabe, E.R.B.9
Fraccaro, M.10
Zuffardi, O.11
Camerino, G.12
-
61
-
-
0028818621
-
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalmic-pituitary-adrenal/gonadal axis
-
(1995)
Biochem Mol Med
, vol.56
, pp. 8-13
-
-
Guo, W.1
Burris, T.P.2
McCabe, E.R.B.3
-
67
-
-
0030586486
-
Sex and the single DAX1: Too little is bad, but can we have too much?
-
(1996)
J Clin Invest
, vol.98
, pp. 881-882
-
-
McCabe, E.R.B.1
-
68
-
-
0019458837
-
Familial X-linked adrenocortical hypoplasia association with androgenic precocity
-
(1981)
Arch Dis Child
, vol.56
, pp. 633-636
-
-
Wittenberg, D.F.1
-
71
-
-
0031020234
-
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
-
(1997)
Mol Cell Biol
, vol.17
, pp. 1476-1483
-
-
Ito, M.1
Yu, R.2
Jameson, J.L.3
-
78
-
-
0002429065
-
DAX1 and related orphan receptors
-
Nuclear Receptors and Genetic Disease (Burris TP, McCabe ERB, Eds.). London: Academic Press
-
(2000)
, pp. 5
-
-
Vilain, E.1
McCabe, E.R.B.2
|