Mégarbané H - Search Results

1

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

Mégarbané H, Boehm N, Chouery E, Bernard R, Salem N, Halaby E, Levy N, Mégarbané A. Mégarbané H, et al. Among authors: megarbane a. Genet Couns. 2005;16(1):85-9. Genet Couns. 2005. PMID: 15844784

2

Further delineation of the odonto-onycho-dermal dysplasia syndrome.

Mégarbané H, Haddad M, Delague V, Renoux J, Boehm N, Mégarbané A. Mégarbané H, et al. Among authors: megarbane a. Am J Med Genet A. 2004 Aug 30;129A(2):193-7. doi: 10.1002/ajmg.a.30188. Am J Med Genet A. 2004. PMID: 15316967

3

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Mégarbané H, Mégarbané A. Mégarbané H, et al. Among authors: megarbane a. Orphanet J Rare Dis. 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. Orphanet J Rare Dis. 2011. PMID: 21600032 Free PMC article. Review.

4

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

Mégarbané H, Zablit C, Waked N, Lefranc G, Tomb R, Mégarbané A. Mégarbané H, et al. Among authors: megarbane a. Am J Med Genet A. 2004 Jan 30;124A(3):323-7. doi: 10.1002/ajmg.a.20352. Am J Med Genet A. 2004. PMID: 14708109 Review.

5

[Congenital exfoliative erythroderma].

Mégarbané H, Tomb R, Klein-Tomb L, Mégarbané A. Mégarbané H, et al. Among authors: megarbane a. Ann Dermatol Venereol. 2004 Feb;131(2):211-2. doi: 10.1016/s0151-9638(04)93576-4. Ann Dermatol Venereol. 2004. PMID: 15026755 French. No abstract available.

6

[Dermatitis artefacta. Report of seven cases].

Megarbane H, Tomb R, Makhoul E, Halaby E. Megarbane H, et al. J Med Liban. 2003 Jan-Mar;51(1):9-14. J Med Liban. 2003. PMID: 15181955 French.

7

New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.

Mégarbané A, Daou L, Mégarbané H, Cave H, Chouery E, Verloes A. Mégarbané A, et al. Among authors: megarbane h. Am J Med Genet A. 2004 Aug 1;128A(4):414-7. doi: 10.1002/ajmg.a.30239. Am J Med Genet A. 2004. PMID: 15264289

8

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Gannagé-Yared MH, Klammt J, Chouery E, Corbani S, Mégarbané H, Abou Ghoch J, Choucair N, Pfäffle R, Mégarbané A. Gannagé-Yared MH, et al. Among authors: megarbane a, megarbane h. Eur J Endocrinol. 2012 Dec 10;168(1):K1-7. doi: 10.1530/EJE-12-0701. Print 2013 Jan. Eur J Endocrinol. 2012. PMID: 23045302

9

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A. Mégarbané H, et al. Among authors: megarbane a. Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509. Am J Med Genet A. 2008. PMID: 18816645

10

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A. Maalouf D, et al. Among authors: megarbane a, megarbane h. Arch Dermatol. 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. Arch Dermatol. 2012. PMID: 22250236

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