AAAAAA
Results: 1-25/46
Authors:
Ray, PF
Vekemans, M
Munnich, A
Citation: Pf. Ray et al., Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination, MOL HUM REP, 7(5), 2001, pp. 489-494
Authors:
Elghezal, H
Le Guyader, G
Radford-Weiss, I
Perot, C
Van den Akker, J
Eydoux, P
Vekemans, M
Romana, SP
Citation: H. Elghezal et al., Reassessment of childhood B-Lineage lymphoblastic leukemia karyotypes using spectral analysis, GENE CHROM, 30(4), 2001, pp. 383-392
Authors:
Colleaux, L
Rio, M
Heuertz, S
Moindrault, S
Turleau, C
Ozilou, C
Gosset, P
Raoult, O
Lyonnet, S
Cormier-Daire, V
Amiel, J
Le Merrer, M
Picq, M
de Blois, MC
Prieur, M
Romana, S
Cornelis, F
Vekemans, M
Munnich, A
Citation: L. Colleaux et al., A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation, EUR J HUM G, 9(5), 2001, pp. 319-327
Authors:
Attie-Bitach, T
Vekemans, M
Encha-Razavi, F
Citation: T. Attie-bitach et al., Craniofacial development: Morphogenesis and determinism, ARCH PED, 8, 2001, pp. 390S-392S
Authors:
Rendtorff, ND
Frodin, M
Attie-Bitach, T
Vekemans, M
Tommerup, N
Citation: Nd. Rendtorff et al., Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation, GENOMICS, 71(1), 2001, pp. 40-52
Authors:
Rio, M
Ozilou, C
Cormier-Daire, V
Turleau, C
Prieur, M
Vekemans, M
Chauveau, P
Munnich, A
Colleaux, L
Citation: M. Rio et al., Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation, HUM GENET, 108(6), 2001, pp. 511-515
Authors:
Frydman, N
Romana, S
Le Lorc'h, M
Vekemans, M
Frydman, R
Tachdjian, G
Citation: N. Frydman et al., Assisting reproduction of infertile men carrying a Robertsonian translocation, HUM REPR, 16(11), 2001, pp. 2274-2277
Authors:
Faivre, L
Vekemans, M
Sanlaville, D
Munnich, A
Cormier-Daire, V
Citation: L. Faivre et al., No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients, AM J MED G, 99(2), 2001, pp. 166-167
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:
Salomon, R
Tellier, AL
Attie-Bitach, T
Amiel, J
Vekemans, M
Lyonnet, S
Dureau, P
Niaudet, P
Gubler, MC
Broyer, M
Citation: R. Salomon et al., PAX2 mutations in oligomeganephronia, KIDNEY INT, 59(2), 2001, pp. 457-462
Authors:
De Leersnyder, H
de Blois, MC
Claustrat, B
Romana, S
Albrecht, U
von Kleist-Retzow, JC
Delobel, B
Viot, G
Lyonnet, S
Vekemans, M
Munnich, A
Citation: H. De Leersnyder et al., Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome, J PEDIAT, 139(1), 2001, pp. 111-116
Authors:
De Leersnyder, H
de Blois, MC
Vekemans, M
Sidi, D
Villain, E
Kindermans, C
Munnich, A
Citation: H. De Leersnyder et al., beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome, J MED GENET, 38(9), 2001, pp. 586-590
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:
Joly, G
Lapierre, JM
Ozilou, C
Gosset, P
Aurias, A
de Blois, MC
Prieur, M
Raoul, O
Colleaux, L
Munnich, A
Romana, SP
Vekemans, M
Turleau, C
Citation: G. Joly et al., Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype, CLIN GENET, 60(3), 2001, pp. 212-219
Authors:
Satge, D
Monteil, P
Sasco, AJ
Vital, A
Ohgaki, H
Geneix, A
Malet, P
Vekemans, M
Rethore, MO
Citation: D. Satge et al., Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma, CANCER, 91(8), 2001, pp. 1458-1466
Authors:
Amiel, J
Espinosa-Parrilla, Y
Steffann, J
Gosset, P
Pelet, A
Prieur, M
Boute, O
Choiset, A
Lacombe, D
Philip, N
Le Merrer, M
Tanaka, H
Till, M
Touraine, R
Toutain, A
Vekemans, M
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Authors:
Kalousek, DK
Vekemans, M
Citation: Dk. Kalousek et M. Vekemans, Confined placental mosaicism and genomic imprinting, BEST P R CL, 14(4), 2000, pp. 723-730
Authors:
Amiel, J
Audollent, S
Joly, D
Dureau, P
Salomon, R
Tellier, AL
Auge, J
Bouissou, F
Antignac, C
Gubler, MC
Eccles, MR
Munnich, A
Vekemans, M
Lyonnet, S
Attie-Bitach, T
Citation: J. Amiel et al., PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism, EUR J HUM G, 8(11), 2000, pp. 820-826
Authors:
Gimm, O
Attie-Bitach, T
Lees, JA
Vekemans, M
Eng, C
Citation: O. Gimm et al., Expression of the PTEN tumour suppressor protein during human development, HUM MOL GEN, 9(11), 2000, pp. 1633-1639
Authors:
Rachidi, M
Lopes, C
Gassanova, S
Sinet, PM
Vekemans, M
Attie, T
Delezoide, AL
Delabar, JM
Citation: M. Rachidi et al., Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development, MECH DEVEL, 93(1-2), 2000, pp. 189-193
Authors:
Faivre, L
Bonnefont, JP
Lyonnet, S
Munnich, A
Vekemans, M
Citation: L. Faivre et al., Improvement of cystic fibrosis using antitumoral drugs: a hypothesis, MED HYPOTH, 54(4), 2000, pp. 580-581
Authors:
Crosnier, C
Attie-Bitach, T
Encha-Razavi, F
Audollent, S
Soudy, F
Hadchouel, M
Meunier-Rotival, M
Vekemans, M
Citation: C. Crosnier et al., JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome, HEPATOLOGY, 32(3), 2000, pp. 574-581
Authors:
Marbaix, E
Vekemans, M
Galant, C
Rigot, V
Lemoine, P
Dubois, D
Picquet, C
Henriet, P
Twagirayezu, P
Sufi, S
Eeckhout, Y
Courtoy, PJ
Citation: E. Marbaix et al., Circulating sex hormones and endometrial stromelysin-1 (matrix metalloproteinase-3) at the start of bleeding episodes in levonorgestrel-implant users, HUM REPR, 15, 2000, pp. 120-134
Authors:
Fert-Ferrer, S
Guichet, A
Tantau, J
Delezoide, AL
Ozilou, C
Romana, SP
Gosset, P
Viot, G
Loison, S
Moraine, C
Morichon-Delvallez, N
Turleau, C
Vekemans, M
Prieur, M
Citation: S. Fert-ferrer et al., Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features, PRENAT DIAG, 20(6), 2000, pp. 511-515
Authors:
Ray, PF
Gigarel, N
Bonnefont, JP
Attie, T
Hamamah, S
Frydman, N
Vekemans, M
Frydman, R
Munnich, A
Citation: Pf. Ray et al., First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, PRENAT DIAG, 20(13), 2000, pp. 1048-1054