Mehawej C - Search Results

1

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Mehawej C, Chouery E, Al Hage Chehade G, Bejaoui Y, Mahfoud D, Gerges M, Delague V, El Hajj N, Megarbane A. Mehawej C, et al. Mol Syndromol. 2023 Jun;14(3):219-224. doi: 10.1159/000527215. Epub 2023 Jan 17. Mol Syndromol. 2023. PMID: 37323196 Free PMC article.

2

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.

Haddad NM, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, Pingault V, Mégarbané A. Haddad NM, et al. Among authors: mehawej c. Mol Syndromol. 2011 Jan;1(4):169-175. doi: 10.1159/000322891. Epub 2011 Jan 10. Mol Syndromol. 2011. PMID: 21373256 Free PMC article.

3

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.

Mégarbané A, Chouery E, Mignon-Ravix C, El Sabbagh S, Corbani S, Ghoch JA, Jalkh N, Mehawej C, Lévy N, Villard L. Mégarbané A, et al. Among authors: mehawej c. Am J Med Genet A. 2011 May;155A(5):1147-51. doi: 10.1002/ajmg.a.33938. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465653

4

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C, Chouery E, Maalouf D, Baujat G, Le Merrer M, Cormier-Daire V, Mégarbané A. Mehawej C, et al. Eur J Med Genet. 2012 Feb;55(2):103-8. doi: 10.1016/j.ejmg.2011.11.003. Epub 2011 Nov 27. Eur J Med Genet. 2012. PMID: 22178368

5

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Mégarbané A, Hanna N, Chouery E, Jalkh N, Mehawej C, Boileau C. Mégarbané A, et al. Among authors: mehawej c. Am J Med Genet A. 2012 May;158A(5):1185-9. doi: 10.1002/ajmg.a.35279. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22489068

6

A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V. Mégarbané A, et al. Among authors: mehawej c. Am J Med Genet A. 2014 Apr;164A(4):1010-4. doi: 10.1002/ajmg.a.36372. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458487

7

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A. Mehawej C, et al. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786642 Free PMC article.

8

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Gannagé-Yared MH, Makrythanasis P, Chouery E, Sobacchi C, Mehawej C, Santoni FA, Guipponi M, Antonarakis SE, Hamamy H, Mégarbané A. Gannagé-Yared MH, et al. Among authors: mehawej c. Bone. 2014 Nov;68:142-5. doi: 10.1016/j.bone.2014.08.014. Epub 2014 Aug 30. Bone. 2014. PMID: 25180662

9

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Capo-Chichi JM, et al. Among authors: mehawej c. Eur J Med Genet. 2015 Dec;58(12):637-41. doi: 10.1016/j.ejmg.2015.11.005. Epub 2015 Nov 11. Eur J Med Genet. 2015. PMID: 26578240 Review.

10

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Romani M, Mehawej C, Mazza T, Mégarbané A, Valente EM. Romani M, et al. Among authors: mehawej c. Neurol Genet. 2016 Mar 3;2(2):e61. doi: 10.1212/NXG.0000000000000061. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123480 Free PMC article.

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