-
1
-
-
0033770102
-
Isolated congenital nail dysplasia: A new autosomal dominant condition
-
Hamm H, Karl S, Bröcker EB. Isolated congenital nail dysplasia: a new autosomal dominant condition. Arch Dermatol 2000: 136: 1239-1243.
-
(2000)
Arch. Dermatol.
, vol.136
, pp. 1239-1243
-
-
Hamm, H.1
Karl, S.2
Bröcker, E.B.3
-
2
-
-
0033770363
-
Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13
-
Krebsova A, Hamm H, Karl S, Reis A, Hennies HC. Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Dermatol 2000: 115: 664-667.
-
(2000)
J. Invest. Dermatol.
, vol.115
, pp. 664-667
-
-
Krebsova, A.1
Hamm, H.2
Karl, S.3
Reis, A.4
Hennies, H.C.5
-
3
-
-
0019982515
-
Hereditary twenty-nail dystrophy in a Sicilian family
-
Pavone L, Li Volti S, Guarneri B et al. Hereditary twenty-nail dystrophy in a Sicilian family. J Med Genet 1982: 19: 337-340.
-
(1982)
J. Med. Genet.
, vol.19
, pp. 337-340
-
-
Pavone, L.1
Li Volti, S.2
Guarneri, B.3
-
4
-
-
0031747153
-
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
-
Chen H, Lun Y, Ovchinnikov D et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998: 19: 51-55.
-
(1998)
Nat. Genet.
, vol.19
, pp. 51-55
-
-
Chen, H.1
Lun, Y.2
Ovchinnikov, D.3
-
5
-
-
0031800728
-
Mutations in LMX1B cause the abnormal skeletal pattern and renal dysplasia in nail patella syndrome
-
Dreyar SD, Zhou G, Baldini A et al. Mutations in LMX1B cause the abnormal skeletal pattern and renal dysplasia in nail patella syndrome. Nat Genet 1998: 19: 47-50.
-
(1998)
Nat. Genet.
, vol.19
, pp. 47-50
-
-
Dreyar, S.D.1
Zhou, G.2
Baldini, A.3
-
7
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss NS, Knight SW, Vulliamy TJ et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998: 19: 32-38.
-
(1998)
Nat. Genet.
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
-
8
-
-
0002725696
-
Developmental abnormalities
-
(Samman PD, Fenton DA, eds). Oxford: Butterworth Heinemann
-
Samman PD. Developmental abnormalities. In: Samman's the nails in diseases (Samman PD, Fenton DA, eds). Oxford: Butterworth Heinemann, 1995: 183-208.
-
(1995)
Samman's the Nails in Diseases
, pp. 183-208
-
-
Samman, P.D.1
-
9
-
-
0021970380
-
A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
-
Cooks RG, Hertz M, Katznelson MBM, Goodman RM. A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 1985: 27: 85-91.
-
(1985)
Clin. Genet.
, vol.27
, pp. 85-91
-
-
Cooks, R.G.1
Hertz, M.2
Katznelson, M.B.M.3
Goodman, R.M.4
-
10
-
-
0027980099
-
Congenital hereditary endothelial dystrophy associated with nail hypoplasia
-
Stirling R, Pitts J, Galloway NR, Robson K, Newbury-Ecob R. Congenital hereditary endothelial dystrophy associated with nail hypoplasia. Br J Ophthal 1994: 78: 77-78.
-
(1994)
Br. J. Ophthal.
, vol.78
, pp. 77-78
-
-
Stirling, R.1
Pitts, J.2
Galloway, N.R.3
Robson, K.4
Newbury-Ecob, R.5
-
13
-
-
0034098774
-
Allegro, a new computer program for multipoint linkage analysis
-
Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2002: 25: 12-13.
-
(2002)
Nat. Genet.
, vol.25
, pp. 12-13
-
-
Gudbjartsson, D.F.1
Jonasson, K.2
Frigge, M.L.3
Kong, A.4
-
14
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex specific variation in recombination
-
Broman K, Murray JC, Scheffield VC, White RL, Weber J. Comprehensive human genetic maps: individual and sex specific variation in recombination. Am J Hum Genet 1998: 63: 861-869.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 861-869
-
-
Broman, K.1
Murray, J.C.2
Scheffield, V.C.3
White, R.L.4
Weber, J.5
-
15
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J et al. A high-resolution recombination map of the human genome. Nat Genet 2002: 31: 241-247.
-
(2002)
Nat. Genet.
, vol.31
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
-
17
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
-
Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996: 58: 1323-1337.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1323-1337
-
-
Sobel, E.1
Lange, K.2
-
18
-
-
2042437650
-
Initial sequence and analysis of the human genome
-
International Human Genome Sequence Consortium
-
International Human Genome Sequence Consortium. Initial sequence and analysis of the human genome. Nature 2001: 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
19
-
-
0027432652
-
Incorrect specification of marker allele frequencies: Effects on linkage analysis
-
Freimer NB, Sandkuijl LA, Blower SM. Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet 1993: 52: 1102-1110.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1102-1110
-
-
Freimer, N.B.1
Sandkuijl, L.A.2
Blower, S.M.3
-
20
-
-
0028989243
-
Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
-
Vidal F, Aberdam D, Miquel C et al. Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995: 10: 229-234.
-
(1995)
Nat. Genet.
, vol.10
, pp. 229-234
-
-
Vidal, F.1
Aberdam, D.2
Miquel, C.3
-
21
-
-
0030297619
-
Chromosomal localization of the human envoplakin gene (EVPL) to the region of tylosis oesophageal cancer gene (TOCG) on chromosome 17q25
-
Ruhrberg C, Williamson JA, Sheer D, Watt FM. Chromosomal localization of the human envoplakin gene (EVPL) to the region of tylosis oesophageal cancer gene (TOCG) on chromosome 17q25. Genomics 1996: 37: 381-385.
-
(1996)
Genomics
, vol.37
, pp. 381-385
-
-
Ruhrberg, C.1
Williamson, J.A.2
Sheer, D.3
Watt, F.M.4
|