-
1
-
-
0031034499
-
Of mice and men: Genetic disorders of the cytoskeleton
-
Fuchs E. Of mice and men: genetic disorders of the cytoskeleton. Mol Biol Cell 1996: 8: 189-203.
-
(1996)
Mol Biol Cell
, vol.8
, pp. 189-203
-
-
Fuchs, E.1
-
2
-
-
0030455978
-
Human keratin disease: Hereditary fragility of specific epithelial tissues
-
Corden L D, McLean W H I. Human keratin disease: hereditary fragility of specific epithelial tissues. Exp Dermatol 1996: 5: 297-307.
-
(1996)
Exp Dermatol
, vol.5
, pp. 297-307
-
-
Corden, L.D.1
McLean, W.H.I.2
-
5
-
-
0028568985
-
3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
-
3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994: 24: 357-360.
-
(1994)
Genomics
, vol.24
, pp. 357-360
-
-
Pulkkinen, L.1
Christiano, A.M.2
Gerecke, D.3
-
6
-
-
0028909571
-
Identification of a homozygous one basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence
-
Vailly J, Pulkkinen L, Miquel C et al. Identification of a homozygous one basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 1995: 104: 462-466.
-
(1995)
J Invest Dermatol
, vol.104
, pp. 462-466
-
-
Vailly, J.1
Pulkkinen, L.2
Miquel, C.3
-
7
-
-
0029044045
-
3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
-
3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Molec Genet 1995: 4: 959-962.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 959-962
-
-
Kivirikko, S.1
McGrath, J.A.2
Baudoin, C.3
-
9
-
-
0028989243
-
4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
-
4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 1995: 10: 229-234.
-
(1995)
Nature Genet
, vol.10
, pp. 229-234
-
-
Vidal, F.1
Aberdam, D.2
Miquel, C.3
-
10
-
-
0029121987
-
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
-
McGrath J A, Gatalica B, Christiane A M et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nature Genet 1995: 11: 83-86.
-
(1995)
Nature Genet
, vol.11
, pp. 83-86
-
-
McGrath, J.A.1
Gatalica, B.2
Christiane, A.M.3
-
11
-
-
0029829634
-
Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy
-
Uitto J, Pulkkinen L, Smith F J D, McLean W H I. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 1996: 5: 237-246.
-
(1996)
Exp Dermatol
, vol.5
, pp. 237-246
-
-
Uitto, J.1
Pulkkinen, L.2
Smith, F.J.D.3
McLean, W.H.I.4
-
12
-
-
0027296584
-
Type VII collagen, anchoring fibrils and epidermolysis bullosa
-
Burgeson R E. Type VII collagen, anchoring fibrils and epidermolysis bullosa. J Invest Dermatol 1993: 101: 252-255.
-
(1993)
J Invest Dermatol
, vol.101
, pp. 252-255
-
-
Burgeson, R.E.1
-
13
-
-
0030070588
-
Molecular complexity of the cutaneous adhesion zone: Revelations through the paradigms of epidermolysis bullosa
-
Christiano A M, Uitto J. Molecular complexity of the cutaneous adhesion zone: Revelations through the paradigms of epidermolysis bullosa. Exp Dermatol 1996: 5: 1-11.
-
(1996)
Exp Dermatol
, vol.5
, pp. 1-11
-
-
Christiano, A.M.1
Uitto, J.2
-
14
-
-
0029705828
-
Molecular diagnosis of inherited skin disorders: The paradigm of dystrophic epidermolysis bullosa
-
Christiano A M, Uitto J. Molecular diagnosis of inherited skin disorders: the paradigm of dystrophic epidermolysis bullosa. Adv Dermatol 1996: 11: 199-214.
-
(1996)
Adv Dermatol
, vol.11
, pp. 199-214
-
-
Christiano, A.M.1
Uitto, J.2
-
15
-
-
0028348553
-
Dominant dystrophic epidermolysis bullosa: Identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen
-
Christiano A M, Ryynänen M, Uitto J. Dominant dystrophic epidermolysis bullosa: Identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci USA 1994: 91: 3549-3553.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 3549-3553
-
-
Christiano, A.M.1
Ryynänen, M.2
Uitto, J.3
-
16
-
-
0029918880
-
Glycine substitutions in the triple helical region of Type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
-
Christiano A M, McGrath J A, Tan K C, Uitto J. Glycine substitutions in the triple helical region of Type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996: 58: 671-681.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 671-681
-
-
Christiano, A.M.1
McGrath, J.A.2
Tan, K.C.3
Uitto, J.4
-
17
-
-
0028926566
-
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa
-
Christiano A M, Morricone A, Paradisi M, Mazzanti C, Cavalieri R, Uitto J. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 1995: 104: 438-440.
-
(1995)
J Invest Dermatol
, vol.104
, pp. 438-440
-
-
Christiano, A.M.1
Morricone, A.2
Paradisi, M.3
Mazzanti, C.4
Cavalieri, R.5
Uitto, J.6
-
18
-
-
26844487102
-
A strategy for identification of sequence variants in the human type VII collagen gene (COL7A1) and a novel 2 bp deletion
-
in press
-
Christiano A M, Hoffman G G, Zhang X et al. A strategy for identification of sequence variants in the human type VII collagen gene (COL7A1) and a novel 2 bp deletion. Hum Mutat 1997 (in press).
-
(1997)
Hum Mutat
-
-
Christiano, A.M.1
Hoffman, G.G.2
Zhang, X.3
-
19
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock M J, Prockop D J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993: 90: 10325-10329.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
20
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
-
Fine J D et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol 1991: 24: 119-35.
-
(1991)
J Am Acad Dermatol
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
|