-
1
-
-
0023230573
-
Hypohidrotic ectodermal dysplasia
-
Clarke, A. Hypohidrotic ectodermal dysplasia. J. Med. Genet. 24, 659-663 (1987).
-
(1987)
J. Med. Genet.
, vol.24
, pp. 659-663
-
-
Clarke, A.1
-
2
-
-
9344250077
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
-
Kere, J. et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet. 13, 409-416 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 409-416
-
-
Kere, J.1
-
3
-
-
0032231350
-
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
-
Monreal, A.W., Zonana, J. & Ferguson, B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63, 380-389 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 380-389
-
-
Monreal, A.W.1
Zonana, J.2
Ferguson, B.3
-
4
-
-
0031716740
-
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
-
Bayes, M. et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum. Mol. Genet. 7, 1661-1669 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1661-1669
-
-
Bayes, M.1
-
5
-
-
0030833393
-
Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
-
Ferguson, B.M. et al. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain. Hum. Mol. Genet. 6, 1589-1594 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1589-1594
-
-
Ferguson, B.M.1
-
6
-
-
12644310324
-
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
-
Srivastava, A.K. et al. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc. Natl Acad. Sci. USA 94, 13069-13074 (1997).
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 13069-13074
-
-
Srivastava, A.K.1
-
7
-
-
0030755074
-
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder
-
Munoz, F. et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am. J. Hum. Genet. 61, 94-100 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 94-100
-
-
Munoz, F.1
-
9
-
-
0031734837
-
YAC rescue of downless locus mutations in mice
-
Majumder, K. et al. YAC rescue of downless locus mutations in mice. Mamm. Genome 9, 863-868 (1998).
-
(1998)
Mamm. Genome
, vol.9
, pp. 863-868
-
-
Majumder, K.1
-
10
-
-
0031960737
-
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13
-
Ho, L., Williams, M.S. & Spritz, R.A. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Am. J. Hum. Genet. 62, 1102-1106 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1102-1106
-
-
Ho, L.1
Williams, M.S.2
Spritz, R.A.3
-
11
-
-
0032775933
-
Involvement of a novel TNF receptor homologue in hair follicle induction
-
Headon, D.J. & Overbeek, P.A. Involvement of a novel TNF receptor homologue in hair follicle induction. Nature Genet. 22, 370-374 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 370-374
-
-
Headon, D.J.1
Overbeek, P.A.2
-
12
-
-
0031616124
-
Molecular mechanisms of TNF receptor-mediated signaling
-
Malek, N.P., Pluempe, J., Kubicka, S., Manns, M.P. & Trautwein, C. Molecular mechanisms of TNF receptor-mediated signaling. Recent Results Cancer Res. 147, 97-106 (1998).
-
(1998)
Recent Results Cancer Res.
, vol.147
, pp. 97-106
-
-
Malek, N.P.1
Pluempe, J.2
Kubicka, S.3
Manns, M.P.4
Trautwein, C.5
-
14
-
-
0026922430
-
Characterization of the human HOX7 cDNA and identification of polymorphic markers
-
Padanilam, B.J. et al. Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum. Mol. Genet. 1, 407-410 (1992).
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 407-410
-
-
Padanilam, B.J.1
-
15
-
-
0032561502
-
A physical map of 30,000 human genes
-
Deloukas, P. et al. A physical map of 30,000 human genes. Science 282, 744-746 (1998).
-
(1998)
Science
, vol.282
, pp. 744-746
-
-
Deloukas, P.1
-
16
-
-
0033071212
-
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13
-
Baala, P. et al. Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am. J. Hum. Genet. 64, 651-653 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 651-653
-
-
Baala, P.1
-
17
-
-
0029591928
-
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q
-
Konrad, M. et al. A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. Genomics 30, 514-520 (1995).
-
(1995)
Genomics
, vol.30
, pp. 514-520
-
-
Konrad, M.1
-
18
-
-
0023503056
-
Autosomal dominant ectodermal dysplasia
-
Jorgenson, R.J., Dowben, J.S. & Dowben, S.L. Autosomal dominant ectodermal dysplasia. J. Craniofac. Genet. Dev. Biol. 7, 403-412 (1987).
-
(1987)
J. Craniofac. Genet. Dev. Biol.
, vol.7
, pp. 403-412
-
-
Jorgenson, R.J.1
Dowben, J.S.2
Dowben, S.L.3
-
19
-
-
0029025441
-
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
-
Fisher, G.H. et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935-946 (1995).
-
(1995)
Cell
, vol.81
, pp. 935-946
-
-
Fisher, G.H.1
-
20
-
-
0026744103
-
Tumor necrosis factor receptor signaling. A dominant negative mutation suppresses the activation of the 55-kDa tumor necrosis factor receptor
-
Tartaglia, L.A. & Goeddel, D.V. Tumor necrosis factor receptor signaling. A dominant negative mutation suppresses the activation of the 55-kDa tumor necrosis factor receptor. J. Biol. Chem. 267, 4304-4307 (1992).
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 4304-4307
-
-
Tartaglia, L.A.1
Goeddel, D.V.2
-
21
-
-
0030952229
-
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis
-
Bettinardi, A. et al. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 89, 902-909 (1997).
-
(1997)
Blood
, vol.89
, pp. 902-909
-
-
Bettinardi, A.1
-
22
-
-
0031797465
-
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis
-
Infante, A.J. et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J. Pediat. 133, 629-633 (1998).
-
(1998)
J. Pediat.
, vol.133
, pp. 629-633
-
-
Infante, A.J.1
-
23
-
-
0023936038
-
A novel β thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2
-
Beldjord, C. et al. A novel β thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2. Nucleic Acids Res. 16, 4927-4935 (1988).
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 4927-4935
-
-
Beldjord, C.1
-
24
-
-
0030857005
-
Functional analysis of the polypyrimidine tract in pre-mRNA splicing
-
Coolidge, C.J., Seely, R.J. & Patton, J.G. Functional analysis of the polypyrimidine tract in pre-mRNA splicing. Nucleic Acids Res. 25, 888-896 (1997).
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 888-896
-
-
Coolidge, C.J.1
Seely, R.J.2
Patton, J.G.3
-
25
-
-
0028353492
-
The TNF receptor superfamily of cellular and viral proteins: Activation, costimulation, and death
-
Smith, C.A., Farrah, T. & Goodwin, R.G. The TNF receptor superfamily of cellular and viral proteins: activation, costimulation, and death. Cell 76, 959-962 (1994).
-
(1994)
Cell
, vol.76
, pp. 959-962
-
-
Smith, C.A.1
Farrah, T.2
Goodwin, R.G.3
-
26
-
-
0027248268
-
Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: Thermal RACE
-
Frohman, M.A. Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods Enzymol. 218, 340-356 (1993).
-
(1993)
Methods Enzymol.
, vol.218
, pp. 340-356
-
-
Frohman, M.A.1
-
27
-
-
9044240048
-
A radiation hybrid map of the human genome
-
Gyapay, G. et al. A radiation hybrid map of the human genome. Hum. Mol. Genet. 5, 339-346 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 339-346
-
-
Gyapay, G.1
-
28
-
-
0029929955
-
Construction and characterization of a human bacterial artificial chromosome library
-
Kim, U.J. et al. Construction and characterization of a human bacterial artificial chromosome library. Genomics 34, 213-218 (1996).
-
(1996)
Genomics
, vol.34
, pp. 213-218
-
-
Kim, U.J.1
-
29
-
-
0026207423
-
Vectorette PCR: A novel approach to genomic walking
-
Arnold, C. & Hodgson, I.J. Vectorette PCR: a novel approach to genomic walking. PCR Methods Appl. 1, 39-42 (1991).
-
(1991)
PCR Methods Appl.
, vol.1
, pp. 39-42
-
-
Arnold, C.1
Hodgson, I.J.2
-
30
-
-
0026666677
-
High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus
-
Zonana, J. et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am. J. Hum. Genet. 51, 1036-1046 (1992).
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1036-1046
-
-
Zonana, J.1
-
31
-
-
0031980020
-
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
-
Ferguson, B.M. et al. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J. Med. Genet. 35, 112-115 (1998).
-
(1998)
J. Med. Genet.
, vol.35
, pp. 112-115
-
-
Ferguson, B.M.1
|