Blanchet-Bardon C - Search Results

1

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

Hovnanian A, Duquesnoy P, Amselem S, Blanchet-Bardon C, Lathrop M, Dubertret L, Goossens M. Hovnanian A, et al. J Clin Invest. 1991 Nov;88(5):1716-21. doi: 10.1172/JCI115489. J Clin Invest. 1991. PMID: 1658051 Free PMC article.

2

Vitamin and trace metal levels in recessive dystrophic epidermolysis bullosa.

Ingen-Housz-Oro S, Blanchet-Bardon C, Vrillat M, Dubertret L. Ingen-Housz-Oro S, et al. J Eur Acad Dermatol Venereol. 2004 Nov;18(6):649-53. doi: 10.1111/j.1468-3083.2004.01067.x. J Eur Acad Dermatol Venereol. 2004. PMID: 15482288

3

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, Lathrop M, Dubertret L, Uitto J, Goossens M. Hovnanian A, et al. J Clin Invest. 1992 Sep;90(3):1032-6. doi: 10.1172/JCI115916. J Clin Invest. 1992. PMID: 1355776 Free PMC article.

4

DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.

Hovnanian A, Hilal L, Blanchet-Bardon C, Bodemer C, de Prost Y, Stark CA, Christiano AM, Dommergues M, Terwilliger JD, Izquierdo L, et al. Hovnanian A, et al. J Invest Dermatol. 1995 Apr;104(4):456-61. doi: 10.1111/1523-1747.ep12605893. J Invest Dermatol. 1995. PMID: 7706758 Free article.

5

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M. Hovnanian A, et al. Am J Hum Genet. 1994 Aug;55(2):289-96. Am J Hum Genet. 1994. PMID: 8037207 Free PMC article.

6

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.

Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, Barrandon Y, Uitto J, Goossens M, et al. Hilal L, et al. Nat Genet. 1993 Nov;5(3):287-93. doi: 10.1038/ng1193-287. Nat Genet. 1993. PMID: 8275094

7

[Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) with IgA nephropathy: 4 cases].

Farhi D, Ingen-Housz-Oro S, Ducret F, Rioux-Leclercq N, Cam G, Simon P, Martinez F, Fumeron C, Dubertret L, Blanchet-Bardon C. Farhi D, et al. Ann Dermatol Venereol. 2004 Nov;131(11):963-7. doi: 10.1016/s0151-9638(04)93806-9. Ann Dermatol Venereol. 2004. PMID: 15602383 French.

8

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme JF, Dubertret L, Weissenbach J. Parmentier L, et al. Hum Mol Genet. 1995 Aug;4(8):1391-5. doi: 10.1093/hmg/4.8.1391. Hum Mol Genet. 1995. PMID: 7581379

9

[CFC syndrome in mother and daughter: a syndrome distinct from Noonan syndrome].

Blanchet-Bardon C, Puppin D Jr, Fischer R, Dubertret L. Blanchet-Bardon C, et al. Ann Dermatol Venereol. 1991;118(11):778-80. Ann Dermatol Venereol. 1991. PMID: 1789629 French. No abstract available.

10

Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature.

Hovnanian A, Blanchet-Bardon C, de Prost Y. Hovnanian A, et al. Pediatr Dermatol. 1989 Jun;6(2):82-90. doi: 10.1111/j.1525-1470.1989.tb01003.x. Pediatr Dermatol. 1989. PMID: 2664739 Review.

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