André Mégarbané
Laboratoires de Biologie Moléculaire et Cytogénétique
Faculté de Médecine
Université Saint Joseph
Paris
France
Name/email consistency: high
- A new autosomal recessive oto-facial syndrome with midline malformations. Mégarbané, A., Chouery, E., Rassi, S., Delague, V. Am. J. Med. Genet. A (2005)
- 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. Genet. Couns. (2005)
- 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. Am. J. Med. Genet. A (2004)
- Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?. Mégarbané, A., Rassi, S., Estephan, F., Kouba-Hreich, E. Am. J. Med. Genet. A (2004)
- Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. Mégarbané, A., Maroteaux, P., Caillaud, C., Le Merrer, M. Am. J. Med. Genet. A (2004)
- New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. Mégarbané, A., Daou, L., Mégarbané, H., Cave, H., Chouery, E., Verloes, A. Am. J. Med. Genet. A (2004)
- A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa. Mégarbané, A., Melick, N., Daou, L. Am. J. Med. Genet. A (2004)
- Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?. Mégarbané, A., Haddad, J., Lyonnet, S., Clayton-Smith, J. Am. J. Med. Genet. A (2003)
- Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation. Mégarbané, A. Am. J. Med. Genet. A (2003)
- Congenital malformations and genetic diseases in comic books. Mégarbané, A., Adib, S.M. Genet. Couns. (2003)
- Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings. Mégarbané, A., Gannagé-Yared, M.H., Khalifé, A.A., Fabre, M. Am. J. Med. Genet. A (2003)
- A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. Mégarbané, A., Rassi, S., Chouery, E., Delague, V., Perez de Nanclares Leal, G., Tabet, M., Castaño, L., Loiselet, J. Am. J. Med. Genet. A (2003)
- Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. Mégarbané, A., Ghanem, I., Le Merrer, M. Am. J. Med. Genet. A (2003)
- Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. Mégarbané, A., Bejjani, B.A., Shaffer, L.G., Jambart, S., Souraty, N., Kashork, C.D., Le Merrer, M. Am. J. Med. Genet. (2002)
- Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs. Mégarbané, A., Hersh, J.H., Chouery, E., Fabre, M. Am. J. Med. Genet. (2002)
- An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy. Mégarbané, A., Sanders, A., Chouery, E., Delague, V., Medlej-Hashim, M., Torbey, P.H. J. Rheumatol. (2002)
- Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?. Mégarbané, A., Ghanem, I., Romana, S., Gosset, P., Caillaud, C. Genet. Couns. (2002)
- Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia. Mégarbané, A., Ghanem, I., Rizk, T., Jabbour, P. Am. J. Med. Genet. (2002)
- 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, Y.B., Saliba, N., Mornet, E., Serre, J.L., Slim, R. Am. J. Med. Genet. (2001)
- A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation. Mégarbané, A. Clin. Dysmorphol. (2001)
- New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Mégarbané, A., Delague, V., Ruchoux, M.M., Rizkallah, E., Maurage, C.A., Viollet, L., Rouaix-Emery, N., Urtizberea, A. Am. J. Med. Genet. (2001)
- Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome. Mégarbané, A., Cormier-Daire, V. Am. J. Med. Genet. (2001)
- Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature. Mégarbané, A., Gosset, P., Souraty, N., Lapierre, J.M., Korban, R., Zahed, L., Samaras, L., Vekemans, M., Prieur, M. Am. J. Med. Genet. (2001)
- 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, M.M., Loeys, B., Ayoub, N., Nuytinck, L. Am. J. Med. Genet. (2001)
- 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. Am. J. Med. Genet. (2000)
- Chromosome 7q22-q31 duplication: report of a new case and review. Mégarbané, A., Gosset, P., Souraty, N., Lapierre, J.M., Turleau, C., Vekemans, M., Loiselet, J., Prieur, M. Am. J. Med. Genet. (2000)
- Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Mégarbané, A., Mustapha, M., Bleik, J., Waked, N., Delague, V., Loiselet, J. Clin. Genet. (2000)
- Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder. Mégarbané, A., Stephan, E., Kassab, R., Ashoush, R., Salem, N., Bouvagnet, P., Loiselet, J. Am. J. Med. Genet. (1999)
- Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?. Mégarbané, A., Haddad-Zebouni, S., Nabbout, R., Khoury, A.H., Traboulsi, E.I. Am. J. Med. Genet. (1999)
- Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Mégarbané, A., Haddad, F.A., Haddad-Zebouni, S., Achram, M., Eich, G., Le Merrer, M., Superti-Furga, A. Clin. Genet. (1999)
- New form of hidrotic ectodermal dysplasia in a Lebanese family. Mégarbané, A., Noujeim, Z., Fabre, M., Der Kaloustian, V.M. Am. J. Med. Genet. (1998)
- Clinical manifestation of a severe neonatal progeroid syndrome. Mégarbané, A., Loiselet, J. Clin. Genet. (1997)
- Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. Mégarbané, A., Le Merrer, M., el Kallab, K. Clin. Dysmorphol. (1997)
- Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Mégarbané, A., Tomey, K., Wakim, G. Am. J. Med. Genet. (1997)
