Vabres P - Search Results

1

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Hadj-Rabia S, et al. Among authors: vabres p. Gastroenterology. 2004 Nov;127(5):1386-90. doi: 10.1053/j.gastro.2004.07.022. Gastroenterology. 2004. PMID: 15521008

2

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Smahi A, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud MC, Dahl N, Labrune P, Le Marec B, Piussan C, et al. Smahi A, et al. Among authors: vabres p. Hum Mol Genet. 1994 Feb;3(2):273-8. doi: 10.1093/hmg/3.2.273. Hum Mol Genet. 1994. PMID: 8004094

3

[Congenital cutaneous aplasia in the surviving monozygotic twin].

Vabres P, Amoric JC, De Prost Y. Vabres P, et al. Ann Dermatol Venereol. 1993;120(11):769-71. Ann Dermatol Venereol. 1993. PMID: 8210107 French. No abstract available.

4

Bazex-Dupré-Christol syndrome: a possible diagnosis for basal cell carcinomas, coarse sparse hair, and milia.

Vabres P, de Prost Y. Vabres P, et al. Am J Med Genet. 1993 Mar 15;45(6):786. doi: 10.1002/ajmg.1320450628. Am J Med Genet. 1993. PMID: 8456866 No abstract available.

5

[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].

Vabres P, de Lonlay P, Amiel J, Lyonnet S, Munnich A, de Prost Y. Vabres P, et al. Ann Dermatol Venereol. 1998 Sep;125(9):593-4. Ann Dermatol Venereol. 1998. PMID: 9805547 French.

6

[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].

Vabres P, Sevin C, Amoric JC, Odièvre MH, Saudubray JM, de Prost Y. Vabres P, et al. Ann Dermatol Venereol. 1998 Oct;125(10):715-6. Ann Dermatol Venereol. 1998. PMID: 9835963 Free article. French.

7

Skin elastic fibers in Williams syndrome.

Dridi SM, Ghomrasseni S, Bonnet D, Aggoun Y, Vabres P, Bodemer C, Lyonnet S, de Prost Y, Fraitag S, Pellat B, Sidi D, Godeau G. Dridi SM, et al. Among authors: vabres p. Am J Med Genet. 1999 Nov 19;87(2):134-8. Am J Med Genet. 1999. PMID: 10533027

8

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Among authors: vabres p. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543

9

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.

Lefevre P, Rochat A, Bodemer C, Vabres P, Barrandon Y, de Prost Y, Garner C, Hovnanian A. Lefevre P, et al. Among authors: vabres p. Eur J Hum Genet. 2000 Apr;8(4):273-9. doi: 10.1038/sj.ejhg.5200417. Eur J Hum Genet. 2000. PMID: 10854110

10

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. Baala L, et al. Among authors: vabres p. J Invest Dermatol. 2002 Jul;119(1):70-6. doi: 10.1046/j.1523-1747.2002.01809.x. J Invest Dermatol. 2002. PMID: 12164927 Free PMC article.

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