Hadj-Rabia S - Search Results

1

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.

2

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

Baala L, Hadj Rabia S, Zlotogora J, Kabbaj K, Chhoul H, Munnich A, Lyonnet S, Sefiani A. Baala L, et al. Am J Hum Genet. 1999 Feb;64(2):651-3. doi: 10.1086/302239. Am J Hum Genet. 1999. PMID: 9973304 Free PMC article. No abstract available.

3

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

4

[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.

5

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.

Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laët MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S. Hadj-Rabia S, et al. Eur J Hum Genet. 2000 Aug;8(8):613-20. doi: 10.1038/sj.ejhg.5200508. Eur J Hum Genet. 2000. PMID: 10951524

6

Mutant WD-repeat protein in triple-A syndrome.

Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S. Tullio-Pelet A, et al. Nat Genet. 2000 Nov;26(3):332-5. doi: 10.1038/81642. Nat Genet. 2000. PMID: 11062474

7

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. Amiel J, et al. Prenat Diagn. 2001 Jul;21(7):602-4. doi: 10.1002/pd.126. Prenat Diagn. 2001. PMID: 11494300

8

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D. Goizet C, et al. Neurology. 2002 Mar 26;58(6):962-5. doi: 10.1212/wnl.58.6.962. Neurology. 2002. PMID: 11914417

9

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

10

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

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