-
1
-
-
85046111718
-
X-linked recessive inheritance in a family with isolated congenital alopecia
-
Anzai H, Shimizu H, Nishikawa T: X-linked recessive inheritance in a family with isolated congenital alopecia. Lancet 1991; 347: 337-338.
-
(1991)
Lancet
, vol.347
, pp. 337-338
-
-
Anzai, H.1
Shimizu, H.2
Nishikawa, T.3
-
2
-
-
7344229369
-
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
-
Cichon S, Anker M, Vogt IR et al: Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 1998; 7: 1671-1679.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1671-1679
-
-
Cichon, S.1
Anker, M.2
Vogt, I.R.3
-
3
-
-
9344250077
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein
-
Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-416.
-
(1996)
Nat Genet
, vol.13
, pp. 409-416
-
-
Kere, J.1
Srivastava, A.K.2
Montonen, O.3
-
4
-
-
0025734237
-
Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations
-
Obsen HH, Clemmensen OJ, Brandrup F: Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. Acta Dermato-Venereologica 1991; 71: 349-351.
-
(1991)
Acta Dermato-Venereologica
, vol.71
, pp. 349-351
-
-
Obsen, H.H.1
Clemmensen, O.J.2
Brandrup, F.3
-
5
-
-
0030911627
-
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
-
Radhakrishna U, Blouin JL, Mehenni H et al: The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet 1997; 71: 80-86.
-
(1997)
Am J Med Genet
, vol.71
, pp. 80-86
-
-
Radhakrishna, U.1
Blouin, J.L.2
Mehenni, H.3
-
6
-
-
0031954886
-
Hereditary hypotrichosis simplex
-
Just M, Ribera M, Fuente MJ, Bielsa I, Ferrandiz C: Hereditary hypotrichosis simplex. Dermatology 1998; 196: 339-342.
-
(1998)
Dermatology
, vol.196
, pp. 339-342
-
-
Just, M.1
Ribera, M.2
Fuente, M.J.3
Bielsa, I.4
Ferrandiz, C.5
-
7
-
-
17344370417
-
A gene for universal congenital alopecia maps to chromosome 8p21-22
-
Nöthen MM, Cichon S, Vogt IR et al: A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 1998; 62: 386-390.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 386-390
-
-
Nöthen, M.M.1
Cichon, S.2
Vogt, I.R.3
-
8
-
-
0032811085
-
Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
-
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J: Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999; 22: 366-369.
-
(1999)
Nat Genet
, vol.22
, pp. 366-369
-
-
Monreal, A.W.1
Ferguson, B.M.2
Headon, D.J.3
Street, S.L.4
Overbeek, P.A.5
Zonana, J.6
-
9
-
-
0031468356
-
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
-
Winter H, Rogers MA, Gebhardt M et al: A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997; 101: 165-169.
-
(1997)
Hum Genet
, vol.101
, pp. 165-169
-
-
Winter, H.1
Rogers, M.A.2
Gebhardt, M.3
-
10
-
-
0030747138
-
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
-
Winter H, Rogers MA, Langbein L et al: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997; 16: 372-374.
-
(1997)
Nat Genet
, vol.16
, pp. 372-374
-
-
Winter, H.1
Rogers, M.A.2
Langbein, L.3
-
11
-
-
6844265562
-
Alopecia universalis associated with a mutation in the human hairless gene
-
Ahmad W, Faiyaz ul Haque M, Brancolini V et al. Alopecia universalis associated with a mutation in the human hairless gene. Science 1998; 279: 720-724.
-
(1998)
Science
, vol.279
, pp. 720-724
-
-
Ahmad, W.1
Faiyaz Ul Haque, M.2
Brancolini, V.3
-
12
-
-
0032231885
-
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
-
Ahmad W, Irvine AD, Lam H et al: A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 1998; 63: 984-991.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 984-991
-
-
Ahmad, W.1
Irvine, A.D.2
Lam, H.3
-
13
-
-
0033535507
-
Exposing the human nude phenotype
-
Frank J, Pignata C, Panteleyev AA et al: Exposing the human nude phenotype. Nature 1999; 398: 473-474.
-
(1999)
Nature
, vol.398
, pp. 473-474
-
-
Frank, J.1
Pignata, C.2
Panteleyev, A.A.3
-
15
-
-
0016337743
-
Hereditary hypotrichosis simplex of the scalp
-
Toribio J, Quinones PA: Hereditary hypotrichosis simplex of the scalp. Brit J Dermatol 1974; 91: 687-696.
-
(1974)
Brit J Dermatol
, vol.91
, pp. 687-696
-
-
Toribio, J.1
Quinones, P.A.2
-
17
-
-
17344372330
-
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36
-
Lubianca Neto JF, Lu L, Eavey RD et al: The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 1998; 62: 1107-1112.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1107-1112
-
-
Lubianca Neto, J.F.1
Lu, L.2
Eavey, R.D.3
-
18
-
-
0343568592
-
Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2
-
Oosterwijk JC, van Zandvoort P, Nelen M, van Oost B: Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2. Cytogenet Cell Genet 1991; 58: 2078.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 2078
-
-
Oosterwijk, J.C.1
Van Zandvoort, P.2
Nelen, M.3
Van Oost, B.4
-
19
-
-
0026652099
-
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel
-
Traupe H, van den Ouweland AMW, van Oost BA et al: Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Genomics 1992; 13: 481-483.
-
(1992)
Genomics
, vol.13
, pp. 481-483
-
-
Traupe, H.1
Van Den Ouweland, A.M.W.2
Van Oost, B.A.3
-
20
-
-
0023753292
-
X-linked hypohidritic ectodermal dysplasia: Localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnostics
-
Zonana J, Clarke A, Sarfarazi M et al: X-linked hypohidritic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnostics. Am J Hum Genet 1988; 43: 75-85.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 75-85
-
-
Zonana, J.1
Clarke, A.2
Sarfarazi, M.3
-
21
-
-
0001108518
-
Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita
-
Uchida IA, McRae KN, Wang HC, Ray M: Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am J Hum Genet 1965; 17: 410-419.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 410-419
-
-
Uchida, I.A.1
McRae, K.N.2
Wang, H.C.3
Ray, M.4
-
22
-
-
0014390205
-
The 18p- syndrome. Report of two cases
-
Jacobsen P, Mikkelsen M: The 18p- syndrome. Report of two cases. Ann Genet 1968; 11: 211-216.
-
(1968)
Ann Genet
, vol.11
, pp. 211-216
-
-
Jacobsen, P.1
Mikkelsen, M.2
-
23
-
-
0008651993
-
18p- syndrome: An unusual etiology for familial delayed development with mild dysmorphia
-
Harris CJ, Israel JN, Okada LE: 18p- syndrome: an unusual etiology for familial delayed development with mild dysmorphia. Am J Hum Genet 1983; 35: 94A.
-
(1983)
Am J Hum Genet
, vol.35
-
-
Harris, C.J.1
Israel, J.N.2
Okada, L.E.3
-
25
-
-
0031723522
-
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
-
Zlotogorski A, Ahmad W, Christiano AM: Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum Genet 1998; 103: 400-404.
-
(1998)
Hum Genet
, vol.103
, pp. 400-404
-
-
Zlotogorski, A.1
Ahmad, W.2
Christiano, A.M.3
-
26
-
-
0033364733
-
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias
-
Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N: Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. Am J Hum Genet 1999; 64: 1323-1329.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1323-1329
-
-
Sprecher, E.1
Bergman, R.2
Szargel, R.3
Friedman-Birnbaum, R.4
Cohen, N.5
-
27
-
-
0031571164
-
The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (chr17) and Zfp161-rs1 (X chr)
-
Sobek-Klocke I, Disque-Kochem C, Ronsiek M et al: The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (chr17) and Zfp161-rs1 (X chr). Genomics 1997; 43: 156-164.
-
(1997)
Genomics
, vol.43
, pp. 156-164
-
-
Sobek-Klocke, I.1
Disque-Kochem, C.2
Ronsiek, M.3
-
28
-
-
0030770713
-
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in central Europe
-
Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G: Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in central Europe. Am J Med Genet 1997; 74: 529-5.32.
-
(1997)
Am J Med Genet
, vol.74
, pp. 529-532
-
-
Leube, B.1
Hendgen, T.2
Kessler, K.R.3
Knapp, M.4
Benecke, R.5
Auburger, G.6
-
29
-
-
0031442053
-
Exocrine gland dysfunction in MC5-R-deficient mice: Evidence for coordinated regulation of exocrine gland function by melanocortin peptides
-
Chen W, Kelly MA, Opitz-Araya X, Thomas RE, Low MJ, Cone RD: Exocrine gland dysfunction in MC5-R-deficient mice: evidence for coordinated regulation of exocrine gland function by melanocortin peptides. Cell 1997; 91: 789-798.
-
(1997)
Cell
, vol.91
, pp. 789-798
-
-
Chen, W.1
Kelly, M.A.2
Opitz-Araya, X.3
Thomas, R.E.4
Low, M.J.5
Cone, R.D.6
|