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Results:
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Results: 20
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:
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:
Tishkoff, SA
Varkonyi, R
Cahinhinan, N
Abbes, S
Argyropoulos, G
Destro-Bisol, G
Drousiotou, A
Dangerfield, B
Lefranc, G
Loiselet, J
Piro, A
Stoneking, M
Tagarelli, A
Tagarelli, G
Touma, EH
Williams, SM
Clark, AG
Citation: Sa. Tishkoff et al., Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance, SCIENCE, 293(5529), 2001, pp. 455-462
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
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:
Baghdiguian, S
Martin, M
Richard, I
Pons, F
Astier, C
Bourg, N
Hay, RT
Chemaly, R
Halaby, G
Loiselet, J
Anderson, LVB
de Munain, AL
Fardeau, M
Mangeat, P
Beckmann, JS
Lefranc, G
Citation: S. Baghdiguian et al., Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A (vol 5, pg 503, 1999), NAT MED, 5(7), 1999, pp. 849-849
Authors:
Baghdiguian, S
Martin, M
Richard, I
Pons, F
Astier, C
Bourg, N
Hay, RT
Chemaly, R
Halaby, G
Loiselet, J
Anderson, LVB
de Munain, AL
Fardeau, M
Mangeat, P
Beckmann, JS
Lefranc, G
Citation: S. Baghdiguian et al., Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the I kappa B alpha/NF-kappa B pathway in limb-girdle muscular dystrophy type 2A, NAT MED, 5(5), 1999, pp. 503-511
Authors:
Yasunaga, S
Grati, M
Cohen-Salmon, M
El-Amraoui, A
Mustapha, M
Salem, N
El-Zir, E
Loiselet, J
Petit, C
Citation: S. Yasunaga et al., A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness, NAT GENET, 21(4), 1999, pp. 363-369
Authors:
Mustapha, M
Weil, D
Chardenoux, S
Elias, S
El-Zir, E
Beckmann, JS
Loiselet, J
Petit, C
Citation: M. Mustapha et al., An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21, HUM MOL GEN, 8(3), 1999, pp. 409-412
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
Authors:
Megarbane, A
Stephan, E
Kassab, R
Ashoush, R
Salem, N
Bouvagnet, P
Loiselet, J
Citation: A. Megarbane et al., Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: A new midline disorder, AM J MED G, 83(3), 1999, pp. 193-200
Authors:
Touma, E
Suormala, T
Baumgartner, ER
Gerbaka, B
de Baulny, HO
Loiselet, J
Citation: E. Touma et al., Holocarboxylase synthetase deficiency: Report of a case with onset in lateinfancy, J INH MET D, 22(2), 1999, pp. 115-122
Authors:
Mustapha, M
Salem, N
Weil, D
El-Zir, E
Loiselet, J
Petit, C
Citation: M. Mustapha et al., Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness, EUR J HUM G, 6(6), 1998, pp. 548-551
Authors:
Stephan, E
Chedid, R
Loiselet, J
Bouvagnet, P
Citation: E. Stephan et al., Clinical and molecular genetics of familial bundle branch block related tochromosome 19, ARCH MAL C, 91(12), 1998, pp. 1465-1474
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