-
1
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)
-
Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH, Ortonne JP, Meneguzzi G: Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 6: 299–304, 1994
-
(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.H.9
Ortonne, J.P.10
Meneguzzi, G.11
-
2
-
-
0028267893
-
Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression
-
Baudoin C, Miquel C, Blanchet-Bardon C, Gambini C, Meneguzzi G, Ortonne JP: Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. J Clin Invest 93: 862–869, 1994
-
(1994)
J Clin Invest
, vol.93
, pp. 862-869
-
-
Baudoin, C.1
Miquel, C.2
Blanchet-Bardon, C.3
Gambini, C.4
Meneguzzi, G.5
Ortonne, J.P.6
-
3
-
-
0010527960
-
Epitheliogenesis imperfecta neonatorum in a foal, possibly of a hereditary nature
-
Berthelsen H, Eriksson K: Epitheliogenesis imperfecta neonatorum in a foal, possibly of a hereditary nature. J Comp Pathol Ther 48: 285–297, 1935
-
(1935)
J Comp Pathol Ther
, vol.48
, pp. 285-297
-
-
Berthelsen, H.1
Eriksson, K.2
-
4
-
-
0023061335
-
Antenatal diagnosis of hereditary epidermolysis bullosa
-
Blanchet-Bardon C, Dumez Y, Nazzaro V, Mimoz C, Puissant A: Antenatal diagnosis of hereditary epidermolysis bullosa. Ann Dermatol Venereol 114: 525–539, 1987
-
(1987)
Ann Dermatol Venereol
, vol.114
, pp. 525-539
-
-
Blanchet-Bardon, C.1
Dumez, Y.2
Nazzaro, V.3
Mimoz, C.4
Puissant, A.5
-
5
-
-
0010500294
-
Epithelogenesis imperfecta neonatorum equi
-
Butz VH, Meyer H: Epithelogenesis imperfecta neonatorum equi. Dtsch Tierarztl Wochenschr 64: 555–559, 1957
-
(1957)
Dtsch Tierarztl Wochenschr
, vol.64
, pp. 555-559
-
-
Butz, V.H.1
Meyer, H.2
-
6
-
-
0022712474
-
Dental dysplasia and epitheliogenesis imperfecta in a foal
-
Dubielzig R, Wilson JW, Beck KA, Robbins T: Dental dysplasia and epitheliogenesis imperfecta in a foal. Vet Pathol 23: 325–327, 1986
-
(1986)
Vet Pathol
, vol.23
, pp. 325-327
-
-
Dubielzig, R.1
Wilson, J.W.2
Beck, K.A.3
Robbins, T.4
-
7
-
-
4444337868
-
-
Verlag Von Ferdinand Enke, Stuttgart, Germany
-
Frohner E, Kitt TH: Monatshefte Fur Praktische Tierheilkunde, Mit 2 Tafeln und 43 Textabbildungen. Verlag Von Ferdinand Enke, Stuttgart, Germany, 1913
-
(1913)
Monatshefte Fur Praktische Tierheilkunde, Mit 2 Tafeln und 43 Textabbildungen
-
-
Frohner, E.1
Kitt, T.H.2
-
8
-
-
4444352155
-
Epitheliogenesis imperfecta neonatorum bovis—a recessive trait brought to light by inbreeding
-
Hadley F: Epitheliogenesis imperfecta neonatorum bovis—a recessive trait brought to light by inbreeding. J Hered 18: 487–95, 1928
-
(1928)
J Hered
, vol.18
, pp. 487-495
-
-
Hadley, F.1
-
11
-
-
0026086352
-
Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant
-
Shulman LP, Elias S, Andersen RN, Phillips OP, Milunsky A, Holbrook KA, Smith LT, Fine JD, Simpson JL: Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant. Prenat Diagn 11: 813–818, 1991
-
(1991)
Prenat Diagn
, vol.11
, pp. 813-818
-
-
Shulman, L.P.1
Elias, S.2
Andersen, R.N.3
Phillips, O.P.4
Milunsky, A.5
Holbrook, K.A.6
Smith, L.T.7
Fine, J.D.8
Simpson, J.L.9
-
12
-
-
0003405588
-
-
3rd ed., Mosby, St. Louis, MO
-
Thomson RG, Carlton WW, Zachary JF, McGavin MD: Thomson's Special Veterinary Pathology, 3rd ed. Mosby, St. Louis, MO, 2001
-
(2001)
Thomson's Special Veterinary Pathology
-
-
Thomson, R.G.1
Carlton, W.W.2
Zachary, J.F.3
McGavin, M.D.4
-
14
-
-
0028895182
-
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa
-
Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G: Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics 30: 273–280, 1995
-
(1995)
Genomics
, vol.30
, pp. 273-280
-
-
Vidal, F.1
Baudoin, C.2
Miquel, C.3
Galliano, M.F.4
Christiano, A.M.5
Uitto, J.6
Ortonne, J.P.7
Meneguzzi, G.8
-
15
-
-
0027689006
-
Development defects of enamel in humans with hereditary epidermolysis bullosa
-
Wright JT, Johnson LB, Fine JD: Development defects of enamel in humans with hereditary epidermolysis bullosa. Arch Oral Biol 38: 945–55, 1993
-
(1993)
Arch Oral Biol
, vol.38
, pp. 945-955
-
-
Wright, J.T.1
Johnson, L.B.2
Fine, J.D.3
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