Mégarbané A - Search Results

1

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: megarbane a. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.

2

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Mégarbané A, et al. J Med Genet. 1997 Sep;34(9):783-6. doi: 10.1136/jmg.34.9.783. J Med Genet. 1997. PMID: 9321771 Free PMC article. Review.

3

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: megarbane a. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

4

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Mégarbané A, et al. Am J Med Genet. 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10797435 Review.

5

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R. Mégarbané A, et al. Am J Med Genet. 2001 Jan 22;98(3):244-9. doi: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11169562

6

Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.

Mégarbané A, Cormier-Daire V. Mégarbané A, et al. Am J Med Genet. 2001 Aug 1;102(2):153-6. doi: 10.1002/ajmg.1429. Am J Med Genet. 2001. PMID: 11477608

7

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome.

Mégarbané A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L. Mégarbané A, et al. Am J Med Genet. 2001 Dec 1;104(3):221-4. Am J Med Genet. 2001. PMID: 11754048

8

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: megarbane a. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

9

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

Mégarbané A, Hersh JH, Chouery E, Fabre M. Mégarbané A, et al. Am J Med Genet. 2002 May 15;109(4):323-7. doi: 10.1002/ajmg.10370. Am J Med Genet. 2002. PMID: 11992488

10

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: megarbane a. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.

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