Hadj-Rabia S - Search Results

1

Epithelial barrier dysfunction in desmoglein-1 deficiency.

Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A. Polivka L, et al. J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. J Allergy Clin Immunol. 2018. PMID: 29705242 Free PMC article. No abstract available.

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

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

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

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

8

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

9

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.

10

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. Gastroenterology. 2004 Nov;127(5):1386-90. doi: 10.1053/j.gastro.2004.07.022. Gastroenterology. 2004. PMID: 15521008

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