-
1
-
-
0032906290
-
Molecular pathology of the cutaneous basement membrane zone
-
Mellerio J.E. Molecular pathology of the cutaneous basement membrane zone. Clin Exp Dermatol 24 (1999) 25-32
-
(1999)
Clin Exp Dermatol
, vol.24
, pp. 25-32
-
-
Mellerio, J.E.1
-
2
-
-
43449084027
-
The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB
-
Fine J.D., Eady R.A., Bauer E.A., et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 58 (2008) 931-950
-
(2008)
J Am Acad Dermatol
, vol.58
, pp. 931-950
-
-
Fine, J.D.1
Eady, R.A.2
Bauer, E.A.3
-
3
-
-
0038389789
-
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
-
Siegel D.H., Ashton G.H., Penagos H.G., et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 73 (2003) 174-187
-
(2003)
Am J Hum Genet
, vol.73
, pp. 174-187
-
-
Siegel, D.H.1
Ashton, G.H.2
Penagos, H.G.3
-
4
-
-
0242515916
-
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
-
Jobard F., Bouadjar B., Caux F., et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 12 (2003) 925-935
-
(2003)
Hum Mol Genet
, vol.12
, pp. 925-935
-
-
Jobard, F.1
Bouadjar, B.2
Caux, F.3
-
5
-
-
49549083034
-
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome
-
Lai-Cheong J.E., Ussar S., Arita K., et al. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 128 (2008) 2156-2165
-
(2008)
J Invest Dermatol
, vol.128
, pp. 2156-2165
-
-
Lai-Cheong, J.E.1
Ussar, S.2
Arita, K.3
-
6
-
-
33747877557
-
The Kindlins: subcellular localization and expression during murine development
-
Ussar S., Wang H.V., Linder S., et al. The Kindlins: subcellular localization and expression during murine development. Exp Cell Res 312 (2006) 3142-3151
-
(2006)
Exp Cell Res
, vol.312
, pp. 3142-3151
-
-
Ussar, S.1
Wang, H.V.2
Linder, S.3
-
7
-
-
84980115073
-
Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy
-
Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 66 (1954) 104-111
-
(1954)
Br J Dermatol
, vol.66
, pp. 104-111
-
-
Kindler, T.1
-
9
-
-
0019830157
-
[Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma]
-
[in French]
-
Larregue M., Prigent F., Lorette G., et al. [Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma]. Ann Dermatol Venereol 108 (1981) 69-76 [in French]
-
(1981)
Ann Dermatol Venereol
, vol.108
, pp. 69-76
-
-
Larregue, M.1
Prigent, F.2
Lorette, G.3
-
10
-
-
0021946090
-
Kindler syndrome in two related Kurdish families
-
Hacham-Zadeh S., and Garfunkel A.A. Kindler syndrome in two related Kurdish families. Am J Med Genet 20 (1985) 43-48
-
(1985)
Am J Med Genet
, vol.20
, pp. 43-48
-
-
Hacham-Zadeh, S.1
Garfunkel, A.A.2
-
11
-
-
0027377608
-
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
-
Hilal L., Rochat A., Duquesnoy P., et al. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet 5 (1993) 287-293
-
(1993)
Nat Genet
, vol.5
, pp. 287-293
-
-
Hilal, L.1
Rochat, A.2
Duquesnoy, P.3
-
12
-
-
0032736140
-
Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products
-
Kitao S., Lindor N.M., Shiratori M., et al. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 61 (1999) 268-276
-
(1999)
Genomics
, vol.61
, pp. 268-276
-
-
Kitao, S.1
Lindor, N.M.2
Shiratori, M.3
-
13
-
-
0029810901
-
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
-
Uttam J., Hutton E., Coulombe P.A., et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci U S A 93 (1996) 9079-9084
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 9079-9084
-
-
Uttam, J.1
Hutton, E.2
Coulombe, P.A.3
-
14
-
-
34547857003
-
Five new homozygous mutations in the KIND1 gene in Kindler syndrome
-
Lai-Cheong J.E., Liu L., Sethuraman G., et al. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J Invest Dermatol 127 (2007) 2268-2270
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2268-2270
-
-
Lai-Cheong, J.E.1
Liu, L.2
Sethuraman, G.3
-
15
-
-
1642352708
-
Kindler syndrome
-
Ashton G.H. Kindler syndrome. Clin Exp Dermatol 29 (2004) 116-121
-
(2004)
Clin Exp Dermatol
, vol.29
, pp. 116-121
-
-
Ashton, G.H.1
-
16
-
-
44349152315
-
Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case
-
Wiebe C.B., Petricca G., Hakkinen L., et al. Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case. J Periodontol 79 (2008) 961-966
-
(2008)
J Periodontol
, vol.79
, pp. 961-966
-
-
Wiebe, C.B.1
Petricca, G.2
Hakkinen, L.3
-
17
-
-
36749051854
-
Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms
-
Kern J.S., Herz C., Haan E., et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol 213 (2007) 462-470
-
(2007)
J Pathol
, vol.213
, pp. 462-470
-
-
Kern, J.S.1
Herz, C.2
Haan, E.3
-
18
-
-
58349116039
-
Kindler syndrome: a focal adhesion genodermatosis
-
Lai-Cheong J.E., Tanaka A., Hawche G., et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 160 (2009) 233-242
-
(2009)
Br J Dermatol
, vol.160
, pp. 233-242
-
-
Lai-Cheong, J.E.1
Tanaka, A.2
Hawche, G.3
-
19
-
-
35648984541
-
Kindler syndrome: three cases reports in three siblings
-
Ezzine Sebai N., Trojjet S., Khaled A., et al. Kindler syndrome: three cases reports in three siblings. Ann Dermatol Venereol 134 (2007) 774-778
-
(2007)
Ann Dermatol Venereol
, vol.134
, pp. 774-778
-
-
Ezzine Sebai, N.1
Trojjet, S.2
Khaled, A.3
-
21
-
-
36148942525
-
Unusual molecular findings in Kindler syndrome
-
Arita K., Wessagowit V., Inamadar A.C., et al. Unusual molecular findings in Kindler syndrome. Br J Dermatol 157 (2007) 1252-1256
-
(2007)
Br J Dermatol
, vol.157
, pp. 1252-1256
-
-
Arita, K.1
Wessagowit, V.2
Inamadar, A.C.3
-
22
-
-
9144226774
-
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome
-
Ashton G.H., McLean W.H., South A.P., et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 122 (2004) 78-83
-
(2004)
J Invest Dermatol
, vol.122
, pp. 78-83
-
-
Ashton, G.H.1
McLean, W.H.2
South, A.P.3
-
23
-
-
34547893896
-
Aggressive squamous cell carcinoma in Kindler syndrome
-
Emanuel P.O., Rudikoff D., and Phelps R.G. Aggressive squamous cell carcinoma in Kindler syndrome. Skinmed 5 (2006) 305-307
-
(2006)
Skinmed
, vol.5
, pp. 305-307
-
-
Emanuel, P.O.1
Rudikoff, D.2
Phelps, R.G.3
-
24
-
-
33746115677
-
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene
-
Has C., Wessagowit V., Pascucci M., et al. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 126 (2006) 1776-1783
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1776-1783
-
-
Has, C.1
Wessagowit, V.2
Pascucci, M.3
-
25
-
-
0035724198
-
Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor
-
Lotem M., Raben M., Zeltser R., et al. Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. Br J Dermatol 144 (2001) 1284-1286
-
(2001)
Br J Dermatol
, vol.144
, pp. 1284-1286
-
-
Lotem, M.1
Raben, M.2
Zeltser, R.3
-
26
-
-
0024309209
-
Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature
-
Hovnanian A., Blanchet-Bardon C., and de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature. Pediatr Dermatol 6 (1989) 82-90
-
(1989)
Pediatr Dermatol
, vol.6
, pp. 82-90
-
-
Hovnanian, A.1
Blanchet-Bardon, C.2
de Prost, Y.3
-
27
-
-
64849085158
-
A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome
-
Zhou C., Song S., and Zhang J. A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome. Br J Dermatol 160 (2009) 1119-1122
-
(2009)
Br J Dermatol
, vol.160
, pp. 1119-1122
-
-
Zhou, C.1
Song, S.2
Zhang, J.3
-
28
-
-
53349162122
-
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome
-
Has C., Yordanova I., Balabanova M., et al. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci 52 (2008) 209-212
-
(2008)
J Dermatol Sci
, vol.52
, pp. 209-212
-
-
Has, C.1
Yordanova, I.2
Balabanova, M.3
-
29
-
-
33646085800
-
Retrospective diagnosis of Kindler syndrome in a 37-year-old man
-
Thomson M.A., Ashton G.H., McGrath J.A., et al. Retrospective diagnosis of Kindler syndrome in a 37-year-old man. Clin Exp Dermatol 31 (2006) 45-47
-
(2006)
Clin Exp Dermatol
, vol.31
, pp. 45-47
-
-
Thomson, M.A.1
Ashton, G.H.2
McGrath, J.A.3
-
30
-
-
38849119897
-
Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement
-
Mansur A.T., Elcioglu N.H., Aydingoz I.E., et al. Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. Acta Derm Venereol 87 (2007) 563-565
-
(2007)
Acta Derm Venereol
, vol.87
, pp. 563-565
-
-
Mansur, A.T.1
Elcioglu, N.H.2
Aydingoz, I.E.3
-
31
-
-
36148998088
-
Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome
-
Martignago B.C., Lai-Cheong J.E., Liu L., et al. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Br J Dermatol 157 (2007) 1281-1284
-
(2007)
Br J Dermatol
, vol.157
, pp. 1281-1284
-
-
Martignago, B.C.1
Lai-Cheong, J.E.2
Liu, L.3
|