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Results: 1-25/140
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:
Bonnet, D
Rustin, P
Rotig, A
Le Bidois, J
Munnich, A
Vouhe, P
Kachaner, J
Sidi, D
Citation: D. Bonnet et al., Heart transplantation in children with mitochondrial cardiomyopathy, HEART, 86(5), 2001, pp. 570-571
Authors:
Geromel, V
Cao, A
Briane, D
Vassy, J
Rotig, A
Rustin, P
Coudert, R
Rigaut, JP
Munnich, A
Taillandier, E
Citation: V. Geromel et al., Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes, ANTISENSE N, 11(3), 2001, pp. 175-180
Authors:
Geromel, V
Kadhom, N
Ceballos-Picot, I
Chretien, D
Munnich, A
Rotig, A
Rustin, P
Citation: V. Geromel et al., Human cultured skin fibroblasts survive profound inherited ubiquinone depletion, FREE RAD RE, 35(1), 2001, pp. 11-21
Authors:
Doffinger, R
Smahi, A
Bessia, C
Geissmann, F
Feinberg, J
Durandy, A
Bodemer, C
Kenwrick, S
Dupuis-Girod, S
Blanche, S
Wood, P
Rabia, SH
Headon, DJ
Overbeek, PA
Le Deist, F
Holland, SM
Belani, K
Kumararatne, DS
Fischer, A
Shapiro, R
Conley, ME
Reimund, E
Kalhoff, H
Abinun, M
Munnich, A
Israel, A
Courtois, G
Casanova, JL
Citation: R. Doffinger et al., X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling, NAT GENET, 27(3), 2001, pp. 277-285
Authors:
Gerber, S
Perrault, I
Hanein, S
Barbet, F
Ducroq, D
Ghazi, I
Martin-Coignard, D
Leowski, C
Homfray, T
Dufier, JL
Munnich, A
Kaplan, J
Rozet, JM
Citation: S. Gerber et al., Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis, EUR J HUM G, 9(8), 2001, pp. 561-571
Authors:
Amiel, J
Bougeard, G
Francannet, C
Raclin, V
Munnich, A
Lyonnet, S
Frebourg, T
Citation: J. Amiel et al., TP63 gene mutation in ADULT syndrome, EUR J HUM G, 9(8), 2001, pp. 642-645
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:
Aradhya, S
Bardaro, T
Galgoczy, P
Yamagata, T
Esposito, T
Patlan, H
Ciccodicola, A
Munnich, A
Kenwrick, S
Platzer, M
D'Urso, M
Nelson, DL
Citation: S. Aradhya et al., Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes, HUM MOL GEN, 10(22), 2001, pp. 2557-2567
Authors:
Chantrel-Groussard, K
Geromel, V
Puccio, H
Koenig, M
Munnich, A
Rotig, A
Rustin, P
Citation: K. Chantrel-groussard et al., Disabled early recruitment of antioxidant defenses in Friedreich's ataxia, HUM MOL GEN, 10(19), 2001, pp. 2061-2067
Authors:
Aradhya, S
Woffendin, H
Jakins, T
Bardaro, T
Esposito, T
Smahi, A
Shaw, C
Levy, M
Munnich, A
D'Urso, M
Lewis, RA
Kenwrick, S
Nelson, DL
Citation: S. Aradhya et al., A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations, HUM MOL GEN, 10(19), 2001, pp. 2171-2179
Authors:
Geromel, V
Kadhom, N
Cebalos-Picot, I
Ouari, O
Polidori, A
Munnich, A
Rotig, A
Rustin, P
Citation: V. Geromel et al., Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA, HUM MOL GEN, 10(11), 2001, pp. 1221-1228
Authors:
Holder-Espinasse, M
de Blois, MC
Faivre, L
Romana, S
Uteza, Y
Munnich, A
Lyonnet, S
Cormier-Daire, V
Amiel, J
Citation: M. Holder-espinasse et al., Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report, CLIN DYSMOR, 10(4), 2001, pp. 253-255
Authors:
Faivre, L
Cormier-Daire, V
Genevieve, D
Pinto, G
Goulet, O
Munnich, A
Maroteaux, P
Le Merrer, M
Citation: L. Faivre et al., A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia, CLIN DYSMOR, 10(3), 2001, pp. 181-184
Authors:
Amiel, J
Faivre, L
Marianowskl, R
Bonnet, D
Couly, G
Manach, Y
Le Merrer, M
Cormier-Daire, V
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases, CLIN DYSMOR, 10(1), 2001, pp. 15-18
Authors:
Romero, NB
De Lonlay, P
Llense, S
Leturcq, F
Touati, G
Urtizberea, JA
Saudubray, JM
Munnich, A
Kaplan, JC
Recan, D
Citation: Nb. Romero et al., Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene, NEUROMUSC D, 11(5), 2001, pp. 494-498
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:
Amiel, J
Gigarel, N
Benacki, A
Benit, P
Valnot, I
Parfait, W
Von Kleist-Retzow, JC
Raclin, V
Hadj-Rabia, S
Dumez, Y
Rustin, P
Bonnefont, JP
Munnich, A
Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604
Authors:
Benit, P
Bonnefont, JP
Mostefa, AK
Francannet, C
Munnich, A
Ray, PF
Citation: P. Benit et al., Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis, PRENAT DIAG, 21(4), 2001, pp. 279-283
Authors:
Gauthier-Villars, M
Landrieu, P
Cormier-Daire, V
Jacquemin, E
Chretien, D
Rotig, A
Rustin, P
Munnich, A
de Lonlay, P
Citation: M. Gauthier-villars et al., Respiratory chain deficiency in Alpers syndrome, NEUROPEDIAT, 32(3), 2001, pp. 150-152
Authors:
Amiel, J
Attie-Bitach, T
Marianowski, R
Cormier-Daire, V
Abadie, V
Bonnet, D
Gonzales, M
Chemouny, S
Brunelle, F
Munnich, A
Manach, Y
Lyonnet, S
Citation: J. Amiel et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome, AM J MED G, 99(2), 2001, pp. 124-127
Authors:
Faivre, L
Nivelon-Chevallier, A
Kottler, ML
Robinet, C
Van Kien, PK
Lorcerie, B
Munnich, A
Maroteaux, P
Cormier-Daire, V
LeMerrer, M
Citation: L. Faivre et al., Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome, AM J MED G, 99(2), 2001, pp. 132-136
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:
Munnich, A
Rustin, P
Citation: A. Munnich et P. Rustin, Clinical spectrum and diagnosis of mitochondrial disorders, AM J MED G, 106(1), 2001, pp. 4-17
Authors:
Rozet, JM
Perrault, I
Gerber, S
Hanein, S
Barbet, F
Ducroq, D
Souied, E
Munnich, A
Kaplan, J
Citation: Jm. Rozet et al., Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA), INV OPHTH V, 42(6), 2001, pp. 1190-1192