Hadj-Rabia S - Search Results

1

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, Durand P, Döffinger R, Smahi A, Israel A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C. Dupuis-Girod S, et al. Pediatrics. 2002 Jun;109(6):e97. doi: 10.1542/peds.109.6.e97. Pediatrics. 2002. PMID: 12042591

2

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.

Bénit P, Kara-Mostefa A, Hadj-Rabia S, Munnich A, Bonnefont JP. Bénit P, et al. Hum Mutat. 1999;14(5):428-32. doi: 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10533069

3

[Prenatal diagnosis in dermatology].

Hadj-Rabia S, Bodemer C, De Prost Y, Lyonnet S. Hadj-Rabia S, et al. Ann Dermatol Venereol. 1999 Dec;126(12):981-91. Ann Dermatol Venereol. 1999. PMID: 10648978 Review. French. No abstract available.

4

[Anhidrotic ectodermal dysplasia and Incontinentia pigmenti: pieces of the same puzzle].

Hadj-Rabia S, Smahi A, Bodemer C. Hadj-Rabia S, et al. Ann Dermatol Venereol. 2002 Mar;129(3):277-80. Ann Dermatol Venereol. 2002. PMID: 11988680 Free article. French. No abstract available.

5

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. 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.

6

Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.

Bodak N, Hadj-Rabia S, Hamel-Teillac D, de Prost Y, Bodemer C. Bodak N, et al. Arch Dermatol. 2003 Feb;139(2):201-4. doi: 10.1001/archderm.139.2.201. Arch Dermatol. 2003. PMID: 12588226

7

The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

Bougeard G, Hadj-Rabia S, Faivre L, Sarafan-Vasseur N, Frébourg T. Bougeard G, et al. Eur J Hum Genet. 2003 Sep;11(9):700-4. doi: 10.1038/sj.ejhg.5201004. Eur J Hum Genet. 2003. PMID: 12939657

8

Clinical study of 40 cases of incontinentia pigmenti.

Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C. Hadj-Rabia S, et al. Arch Dermatol. 2003 Sep;139(9):1163-70. doi: 10.1001/archderm.139.9.1163. Arch Dermatol. 2003. PMID: 12975158

9

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

Steffann J, Raclin V, Smahi A, Woffendin H, Munnich A, Kenwrick SJ, Grebille AG, Benachi A, Dumez Y, Bonnefont JP, Hadj-Rabia S. Steffann J, et al. Prenat Diagn. 2004 May;24(5):384-8. doi: 10.1002/pd.889. Prenat Diagn. 2004. PMID: 15164415

10

Skin markers of occult spinal dysraphism in children: a review of 54 cases.

Guggisberg D, Hadj-Rabia S, Viney C, Bodemer C, Brunelle F, Zerah M, Pierre-Kahn A, de Prost Y, Hamel-Teillac D. Guggisberg D, et al. Arch Dermatol. 2004 Sep;140(9):1109-15. doi: 10.1001/archderm.140.9.1109. Arch Dermatol. 2004. PMID: 15381552 Review.

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