-
1
-
-
0028069212
-
Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells
-
M. Akiyama D.K. Kim D.M. Main C.E. Otto K.A. Holbrook Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells J Invest Dermatol 102 1994 210 213
-
(1994)
J Invest Dermatol
, vol.102
, pp. 210-213
-
-
Akiyama, M.1
Kim, D.K.2
Main, D.M.3
Otto, C.E.4
Holbrook, K.A.5
-
3
-
-
0028124729
-
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa
-
C. Baudoin C. Miquel L. Gagnoux-Palacios A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa Hum Mol Genet 3 1994 1909 1910
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1909-1910
-
-
Baudoin, C.1
Miquel, C.2
Gagnoux-Palacios, L.3
-
4
-
-
0029669182
-
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)
-
A.M. Christiano S. LaForgia A.S. Paller J. McGuire H. Shimizu J. Uitto Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1) Mol Med 2 1996 59 76
-
(1996)
Mol Med
, vol.2
, pp. 59-76
-
-
Christiano, A.M.1
LaForgia, S.2
Paller, A.S.3
McGuire, J.4
Shimizu, H.5
Uitto, J.6
-
5
-
-
0026338017
-
Transglutaminases: multifunctional crosslinking enzymes that stabilize tissues
-
C.S. Greenberg P.J. Birckbichler R.H. Rice Transglutaminases: multifunctional crosslinking enzymes that stabilize tissues Faseb J 5 1991 3071 3077
-
(1991)
Faseb J
, vol.5
, pp. 3071-3077
-
-
Greenberg, C.S.1
Birckbichler, P.J.2
Rice, R.H.3
-
6
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
G. Gyapay J. Morissette A. Vignal The 1993-94 Genethon human genetic linkage map Nature Genet 7 1994 246 339
-
(1994)
Nature Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
-
8
-
-
0028947560
-
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
-
M. Huber I. Rettler K. Bernasconi Mutations of keratinocyte transglutaminase in lamellar ichthyosis Sci 267 1995 525 528
-
(1995)
Sci
, vol.267
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
-
10
-
-
0028877463
-
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
-
E. Lander L. Kruglyak Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Nat Genet 11 1995 241 247
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
11
-
-
0027177717
-
Nonsense mutations and diminished mRNA levels
-
I. McIntosh A. Hamosh H.C. Dietz Nonsense mutations and diminished mRNA levels Nat Genet 4 1993 219
-
(1993)
Nat Genet
, vol.4
, pp. 219
-
-
McIntosh, I.1
Hamosh, A.2
Dietz, H.C.3
-
12
-
-
0029019978
-
Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus
-
R. Nair S. Guo S. Jenisch Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus Hum Hered 45 1995 219 230
-
(1995)
Hum Hered
, vol.45
, pp. 219-230
-
-
Nair, R.1
Guo, S.2
Jenisch, S.3
-
13
-
-
0003408936
-
Analysis of Human Genetic Linkage
-
J. Ott Analysis of Human Genetic Linkage 1991 John Hopkins University Press Baltimore 2nd edn
-
(1991)
-
-
Ott, J.1
-
14
-
-
0029089776
-
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
-
L. Parmentier C. Blanchet-Bardon S. Nguyen J.F. Prud’homme L. Dubertret J. Weissenbach Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity Hum Mol Genet 4 1995 1391 1395
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1391-1395
-
-
Parmentier, L.1
Blanchet-Bardon, C.2
Nguyen, S.3
Prud’homme, J.F.4
Dubertret, L.5
Weissenbach, J.6
-
17
-
-
0002978775
-
Ichthyosiform dermatoses
-
S.B. Phillips H.P. Baden Ichthyosiform dermatoses T.B. Fitzpatrick A.Z. Eisen K. Wolff I.M. Freedberg K.F. Austen Dermatology in General Medicine 1993 McGraw- Hill New York 531 544
-
(1993)
, pp. 531-544
-
-
Phillips, S.B.1
Baden, H.P.2
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