AAAAAA
Results: 1-25/51
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:
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:
Cormier-Daire, V
Citation: V. Cormier-daire, Clinical approach to the dysmorphic syndrome in children, ARCH PED, 8, 2001, pp. 382S-384S
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:
Cormier-Daire, V
Savarirayan, R
Unger, S
Rimoin, DL
Lachman, RS
Citation: V. Cormier-daire et al., "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias, PEDIAT RAD, 31(1), 2001, pp. 38-42
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:
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:
Drouin-Garraud, V
Belgrand, M
Grunewald, S
Seta, N
Dacher, JN
Henocq, A
Matthijs, G
Cormier-Daire, V
Frebourg, T
Saugier-Veber, P
Citation: V. Drouin-garraud et al., Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling, AM J MED G, 101(1), 2001, pp. 46-49
Authors:
Cormier-Daire, V
Savarirayan, R
Lachman, RS
Neidich, JA
Grace, K
Rimoin, DL
Wilcox, WR
Citation: V. Cormier-daire et al., "Baby rattle" pelvis dysplasia, AM J MED G, 100(1), 2001, pp. 37-42
Authors:
Dubern, B
Broue, P
Dubuisson, C
Cormier-Daire, V
Habes, D
Chardot, C
Devictor, D
Munnich, A
Bernard, O
Citation: B. Dubern et al., Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children, TRANSPLANT, 71(5), 2001, pp. 633-637
Authors:
Holder-Espinasse, M
Abadie, V
Cormier-Daire, V
Beyler, C
Manach, Y
Munnich, A
Lyonnet, S
Couly, G
Amiel, J
Citation: M. Holder-espinasse et al., Pierre Robin sequence: A series of 117 consecutive cases, J PEDIAT, 139(4), 2001, pp. 588-590
Authors:
Huber, C
Cusin, V
Le Merrer, M
Mathieu, M
Sulmont, V
Dagoneau, N
Munnich, A
Cormier-Daire, V
Citation: C. Huber et al., SHOX point mutations in dyschondrosteosis, J MED GENET, 38(5), 2001, pp. 323-323
Authors:
Imessaoudene, B
Bonnefont, JP
Royer, G
Cormier-Daire, V
Lyonnet, S
Lyon, G
Munnich, A
Amiel, J
Citation: B. Imessaoudene et al., MECP2 mutation in non-fatal, non-progressive encephalopathy in a male, J MED GENET, 38(3), 2001, pp. 171-174
Authors:
Huber, C
Odent, S
Rumeur, S
Padovani, P
Penet, C
Cormier-Daire, V
Munnich, A
Le Merrer, M
Citation: C. Huber et al., Sulphate transporter gene mutations in apparently isolated club foot, J MED GENET, 38(3), 2001, pp. 191-192
Authors:
Von Kleist-Retzow, JC
Yao, JB
Taanman, JW
Chantrel, K
Chretien, D
Cormier-Daire, V
Rotig, A
Munnich, A
Rustin, P
Shoubridge, EA
Citation: Jc. Von Kleist-retzow et al., Mutations in SURF1 are not specifically associated with Leigh syndrome, J MED GENET, 38(2), 2001, pp. 109-113
Authors:
Faivre, L
Le Merrer, M
Baumann, C
Polak, M
Chatelain, P
Sulmont, V
Cousin, J
Bost, M
Cordier, MP
Zackai, E
Russell, K
Finidori, G
Pouliquen, JC
Munnich, A
Maroteaux, P
Cormier-Daire, V
Citation: L. Faivre et al., Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance, J MED GENET, 38(11), 2001, pp. 745-749
Authors:
de Lonlay, P
Seta, N
Barrot, S
Chabrol, B
Drouin, V
Gabriel, BM
Journel, H
Kretz, M
Laurent, J
Le Merrer, M
Leroy, A
Pedespan, D
Sarda, P
Villeneuve, N
Schmitz, J
van Schaftingen, E
Matthijs, G
Jaeken, J
Korner, C
Munnich, A
Saudubray, JM
Cormier-Daire, V
Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19
Authors:
Dupre, T
Cuer, M
Barrot, S
Barnier, A
Cormier-Daire, V
Munnich, A
Durand, G
Seta, N
Citation: T. Dupre et al., Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern, CLIN CHEM, 47(1), 2001, pp. 132-134
Authors:
Benit, P
Chretien, D
Kadhom, N
de Lonlay-Debeney, P
Cormier-Daire, V
Cabral, A
Peudenier, S
Rustin, P
Munnich, A
Rotig, A
Citation: P. Benit et al., Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, AM J HU GEN, 68(6), 2001, pp. 1344-1352
Authors:
Aebi, M
Helenius, A
Schenk, B
Barone, R
Fiumara, A
Berger, EG
Hennet, T
Imbach, T
Stutz, A
Bjursell, C
Uller, A
Wahlstrom, JG
Briones, P
Cardo, E
Clayton, P
Winchester, B
Cormier-Daire, V
de Lonlay, P
Cuer, M
Dupre, T
Seta, N
de Koning, T
Dorland, L
de Loos, F
Kupers, L
Fabritz, L
Hasilik, M
Marquardt, T
Niehues, R
Freeze, H
Grunewald, S
Heykants, L
Jaeken, J
Matthijs, G
Schollen, E
Keir, G
Kjaergaard, S
Schwartz, M
Skovby, F
Klein, A
Roussel, P
Korner, C
Lubke, T
Thiel, C
von Figura, K
Koscielak, J
Krasnewich, D
Lehle, L
Peters, V
Raab, M
Saether, O
Schachter, H
Van Schaftingen, E
Verbert, A
Vilaseca, A
Wevers, R
Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V