-
1
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5)
-
Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EJ, Ortonne JP, et al. (1994) Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 6:299-304
-
(1994)
Nat Genet
, vol.6
, pp. 299-304
-
-
Aberdam, D.1
Galliano, M.F.2
Vailly, J.3
Pulkkinen, L.4
Bonifas, J.5
Christiano, A.M.6
Tryggvason, K.7
Uitto, J.8
Epstein, E.J.9
Ortonne, J.P.10
-
2
-
-
0024521486
-
19-DEJ-1, a hemidesmosome-unchoring filament complex-associated monoclonal antibody. Definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa
-
Fine JD, Horiguchi Y, Couchman JR (1989) 19-DEJ-1, a hemidesmosome-unchoring filament complex-associated monoclonal antibody. Definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa. Arch Dermatol 125:520-523
-
(1989)
Arch Dermatol
, vol.125
, pp. 520-523
-
-
Fine, J.D.1
Horiguchi, Y.2
Couchman, J.R.3
-
3
-
-
0025336483
-
Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa
-
Fine JD, Holbrook KA, Elias S, Anton LI, Rauskolb R (1990) Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenat Diagn 10:219-229
-
(1990)
Prenat Diagn
, vol.10
, pp. 219-229
-
-
Fine, J.D.1
Holbrook, K.A.2
Elias, S.3
Anton, L.I.4
Rauskolb, R.5
-
4
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
-
Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, et al. (1991) Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 24:119-135
-
(1991)
J Am Acad Dermatol
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
Bauer, E.A.2
Briggaman, R.A.3
Carter, D.M.4
Eady, R.A.5
Esterly, N.B.6
Holbrook, K.A.7
Hurwitz, S.8
Johnson, L.9
Lin, A.10
-
5
-
-
0029044045
-
A homozygous nonsense mutation in the α 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
-
Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MGS, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G, et al. (1995) A homozygous nonsense mutation in the α 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4:959-962
-
(1995)
Hum Mol Genet
, vol.4
, pp. 959-962
-
-
Kivirikko, S.1
McGrath, J.A.2
Baudoin, C.3
Aberdam, D.4
Ciatti, S.5
Dunnill, M.G.S.6
McMillan, J.R.7
Eady, R.A.8
Ortonne, J.P.9
Meneguzzi, G.10
-
6
-
-
0030029420
-
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
-
Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM (1996) Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-237
-
(1996)
Hum Mol Genet
, vol.5
, pp. 231-237
-
-
Kivirikko, S.1
McGrath, J.A.2
Pulkkinen, L.3
Uitto, J.4
Christiano, A.M.5
-
7
-
-
0023614556
-
LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin
-
Leigh IM, Purkis PE, Bruckner-Tuderman L (1987) LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin. Epithelia 1:17-29
-
(1987)
Epithelia
, vol.1
, pp. 17-29
-
-
Leigh, I.M.1
Purkis, P.E.2
Bruckner-Tuderman, L.3
-
8
-
-
0028919592
-
Altered laminin 5 expression due to mutations in the gene encoding the β3 chains (LAMB3) in generalized atrophic benign epidermolysis bullosa
-
McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J (1995) Altered laminin 5 expression due to mutations in the gene encoding the β3 chains (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474
-
(1995)
J Invest Dermatol
, vol.104
, pp. 467-474
-
-
McGrath, J.A.1
Pulkkinen, L.2
Christiano, A.M.3
Leigh, I.M.4
Eady, R.A.J.5
Uitto, J.6
-
9
-
-
0028180092
-
Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
-
Pulkkinen L, Christiano AM, Airenne T, Haakana H. Tryggvason K, Uitto J (1994) Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-297
-
(1994)
Nat Genet
, vol.6
, pp. 293-297
-
-
Pulkkinen, L.1
Christiano, A.M.2
Airenne, T.3
Haakana, H.4
Tryggvason, K.5
Uitto, J.6
-
10
-
-
0028568985
-
A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J (1994) A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360
-
(1994)
Genomics
, vol.24
, pp. 357-360
-
-
Pulkkinen, L.1
Christiano, A.M.2
Gerecke, D.R.3
Wagman, D.W.4
Burgeson, R.E.5
Pittelkow, M.R.6
Uitto, J.7
-
11
-
-
0029067313
-
Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)
-
Pulkkinen L, McGrath JA, Christiano AM, Uitto J (1995) Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 6:77-84
-
(1995)
Hum Mutat
, vol.6
, pp. 77-84
-
-
Pulkkinen, L.1
McGrath, J.A.2
Christiano, A.M.3
Uitto, J.4
-
12
-
-
0025326304
-
Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane
-
Shimizu H, McDonald JN, Gunner DB, Black MM, Bhogal B, Leigh IM, Whitehead PC, Eady RA (1990) Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane. Br J Dermatol 122: 577-585
-
(1990)
Br J Dermatol
, vol.122
, pp. 577-585
-
-
Shimizu, H.1
McDonald, J.N.2
Gunner, D.B.3
Black, M.M.4
Bhogal, B.5
Leigh, I.M.6
Whitehead, P.C.7
Eady, R.A.8
-
13
-
-
0026729205
-
The use of silver-enhanced I-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin
-
Shimizu H, Ishida YA, Eady RA (1992) The use of silver-enhanced I-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin. J Histochem Cytochem 40:883-888
-
(1992)
J Histochem Cytochem
, vol.40
, pp. 883-888
-
-
Shimizu, H.1
Ishida, Y.A.2
Eady, R.A.3
-
14
-
-
0027932161
-
Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome
-
Shimizu H, Fine J-D, Suzumori K, Hatta N, Shozu M, Nishikawa T (1994) Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome. J Am Acad Dermatol 31: 429-433
-
(1994)
J Am Acad Dermatol
, vol.31
, pp. 429-433
-
-
Shimizu, H.1
Fine, J.-D.2
Suzumori, K.3
Hatta, N.4
Shozu, M.5
Nishikawa, T.6
-
15
-
-
0026669319
-
Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases
-
Uitto J, Christiano AM (1992) Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 90: 687-692
-
(1992)
J Clin Invest
, vol.90
, pp. 687-692
-
-
Uitto, J.1
Christiano, A.M.2
-
16
-
-
0025974609
-
Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa
-
Verrando P, Blanchet-Bardon C, Pisani A, Thomas L, Cambazard F, Eady RA, Schofield O, Ortonne JP (1991) Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 64:85-92
-
(1991)
Lab Invest
, vol.64
, pp. 85-92
-
-
Verrando, P.1
Blanchet-Bardon, C.2
Pisani, A.3
Thomas, L.4
Cambazard, F.5
Eady, R.A.6
Schofield, O.7
Ortonne, J.P.8
|