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Results: 1-25/29
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
Authors:
Magre, J
Delepine, M
Khallouf, E
Gedde-Dahl, T
Van Maldergem, L
Sobel, E
Papp, J
Meier, M
Megarbane, A
Lathrop, M
Capeau, J
Citation: J. Magre et al., Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13, NAT GENET, 28(4), 2001, pp. 365-370
Authors:
Mansour, I
Delague, V
Cazeneuve, C
Dode, C
Chouery, E
Pecheux, C
Medlej-Hashim, M
Salem, N
El Zein, L
Levan-Petit, I
Lefranc, G
Goossens, M
Delpech, M
Amselem, S
Loiselet, J
Grateau, G
Megarbane, A
Naman, R
Citation: I. Mansour et al., Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations, EUR J HUM G, 9(1), 2001, pp. 51-55
Authors:
Heiss, NS
Megarbane, A
Klauck, SM
Kreuz, FR
Makhoul, E
Majewski, F
Poustka, A
Citation: Ns. Heiss et al., One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC), GEN COUNSEL, 12(2), 2001, pp. 129-136
Authors:
Guilbot, A
Williams, A
Ravise, N
Verny, C
Brice, A
Sherman, DL
Brophy, PJ
LeGuern, E
Delague, V
Bareil, C
Megarbane, A
Claustres, M
Citation: A. Guilbot et al., A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease, HUM MOL GEN, 10(4), 2001, pp. 415-421
Authors:
Megarbane, A
Citation: A. Megarbane, A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation, CLIN DYSMOR, 10(2), 2001, pp. 129-133
Authors:
Delague, V
Bareil, C
Bouvagnet, P
Salem, N
Chouery, E
Loiselet, J
Megarbane, A
Claustres, M
Citation: V. Delague et al., Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter ina large consanguineous Lebanese family, ANN NEUROL, 50(2), 2001, pp. 250-253
Authors:
Megarbane, A
Waked, N
Chouery, E
Moglabey, YB
Saliba, N
Mornet, E
Serre, JL
Slim, R
Citation: A. Megarbane et al., Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers, AM J MED G, 98(3), 2001, pp. 244-249
Authors:
Megarbane, A
Gosset, P
Souraty, N
Lapierre, JM
Korban, R
Zahed, L
Samaras, L
Vekemans, M
Prieur, M
Citation: A. Megarbane et al., Chromosome 10p11.2-p12.2 duplication: Report of a patient and review of the literature, AM J MED G, 104(3), 2001, pp. 204-208
Authors:
Megarbane, A
Ruchoux, MM
Loeys, B
Ayoub, N
Nuytinck, L
Citation: A. Megarbane et al., Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome, AM J MED G, 104(3), 2001, pp. 221-224
Authors:
Megarbane, A
Cormier-Daire, V
Citation: A. Megarbane et V. Cormier-daire, Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndrome, AM J MED G, 102(2), 2001, pp. 153-156
Authors:
Megarbane, A
Delague, V
Ruchoux, MM
Rizkallah, E
Maurage, CA
Viollet, L
Rouaix-Emery, N
Urtizberea, A
Citation: A. Megarbane et al., New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family, AM J MED G, 101(2), 2001, pp. 135-141
Authors:
Megarbane, A
Le Lorch, M
Elghezal, H
Joly, G
Gosset, P
Souraty, N
Samaras, L
Prieur, M
Vekemans, M
Turleau, C
Romana, SP
Citation: A. Megarbane et al., Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes, J MED GENET, 38(3), 2001, pp. 178-182
Authors:
Megarbane, A
Salem, N
Stephan, E
Ashoush, R
Lenoir, D
Delague, V
Kassab, R
Loiselet, J
Bouvagnet, A
Citation: A. Megarbane et al., X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3, EUR J HUM G, 8(9), 2000, pp. 704-708
Authors:
Megarbane, A
Melki, I
Souraty, N
Gerbaka, J
El Ghouzzi, V
Bonaventure, J
Mornand, A
Loiselet, J
Citation: A. Megarbane et al., Overlap between Baller-Gerold and Rothmund-Thomson syndrome, CLIN DYSMOR, 9(4), 2000, pp. 303-305
Authors:
Delague, V
Souraty, N
Khallouf, E
Tardy, V
Chouery, E
Halaby, G
Loiselet, J
Morel, Y
Megarbane, A
Citation: V. Delague et al., Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase, HORMONE RES, 53(2), 2000, pp. 77-82
Authors:
Megarbane, A
Gosset, P
Souraty, N
Lapierre, JM
Turleau, C
Vekemans, M
Loiselet, J
Prieur, M
Citation: A. Megarbane et al., Chromosome 7q22-q31 duplication: Report of a new case and review, AM J MED G, 95(2), 2000, pp. 164-168
Authors:
Megarbane, A
Desguerres, I
Rizkallah, E
Delague, V
Nabbout, R
Barois, A
Urtizberea, A
Citation: A. Megarbane et al., Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?, AM J MED G, 92(2), 2000, pp. 117-121
Authors:
Koussa, S
Megarbane, A
Rizk, T
Tamraz, J
Chemaly, R
Citation: S. Koussa et al., Frontal pseudo-tumoral form of adrenoleukodystrophy, REV NEUROL, 156(11), 2000, pp. 1017-1019
Authors:
Faivre, L
Le Merrer, M
Megarbane, A
Gilbert, B
Mortier, G
Cusin, V
Munnich, A
Maroteaux, P
Cormier-Daire, V
Citation: L. Faivre et al., Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type, J MED GENET, 37(1), 2000, pp. 52-54
Authors:
Megarbane, A
Mustapha, M
Bleik, J
Waked, N
Delague, V
Loiselet, J
Citation: A. Megarbane et al., Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family, CLIN GENET, 58(6), 2000, pp. 473-478
Authors:
Stephan, E
Ashoush, R
Megarbane, A
Kassab, R
Salem, N
Loiselet, J
Bouvagnet, P
Citation: E. Stephan et al., Autosomal dominant mendelian midline complex, secundum atrial septal defect associated to cardiac and facio-thoracic defects. A familial case., ARCH MAL C, 93(5), 2000, pp. 641-647
Authors:
Delague, V
Bareil, C
Tuffery, S
Bouvagnet, P
Chouery, E
Koussa, S
Maisonobe, T
Loiselet, J
Megarbane, A
Claustres, M
Citation: V. Delague et al., Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene, AM J HU GEN, 67(1), 2000, pp. 236-243
Authors:
Megarbane, A
Haddad, J
Citation: A. Megarbane et J. Haddad, Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominalmalformations?, CLIN DYSMOR, 8(4), 1999, pp. 305-307
Authors:
Megarbane, A
Khalil, G
Waked, N
Rotig, A
Caillaud, C
Loiselet, J
Citation: A. Megarbane et al., Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders, AM J MED G, 87(4), 1999, pp. 289-293
Authors:
Megarbane, A
Delague, V
Salem, N
Loiselet, J
Citation: A. Megarbane et al., Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family, AM J MED G, 87(1), 1999, pp. 88-90