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Results: 1-25/36
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:
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:
Francannet, C
Cohen-Tanugi, A
Le Merrer, M
Munnich, A
Bonaventure, J
Legeai-Mallet, L
Citation: C. Francannet et al., Genotype-phenotype correlation in hereditary multiple exostoses, J MED GENET, 38(7), 2001, pp. 430-434
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:
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:
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:
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:
Gedeon, AK
Tiller, GE
Le Merrer, M
Heuertz, S
Tranebjaerg, L
Chitayat, D
Robertson, S
Glass, IA
Savarirayan, R
Cole, WG
Rimoin, DL
Kousseff, BG
Ohashi, H
Zabel, B
Munnich, A
Gecz, J
Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Authors:
Castelnau, P
Le Merrer, M
Diatloff-Zito, C
Marquis, E
Tete, MJ
Robert, JJ
Citation: P. Castelnau et al., Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy, EUR J PED, 159(8), 2000, pp. 631-633
Authors:
Faivre, L
Prieur, AM
Le Merrer, M
Hayem, F
Penet, C
Woo, P
Hofer, M
Dagoneau, N
Sermet, I
Munnich, A
Cormier-Daire, V
Citation: L. Faivre et al., Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome, AM J MED G, 95(3), 2000, pp. 233-236
Authors:
Manouvrier, S
Moerman, A
Coeslier, A
Devisme, L
Boute, O
Le Merrer, M
Citation: S. Manouvrier et al., Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?, AM J MED G, 90(5), 2000, pp. 351-355
Authors:
Renier, D
El Ghouzzi, V
Bonaventure, J
Le Merrer, M
Lajeunie, E
Citation: D. Renier et al., Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome, J NEUROSURG, 92(4), 2000, pp. 631-636
Authors:
Cormier-Daire, V
Chauvet, ML
Lyonnet, S
Briard, ML
Munnich, A
Le Merrer, M
Citation: V. Cormier-daire et al., Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, J MED GENET, 37(7), 2000, pp. 520-524
Authors:
Cormier-Daire, V
Amiel, J
Vuillaumier-Barrot, S
Tan, J
Durand, G
Munnich, A
Le Merrer, M
Seta, N
Citation: V. Cormier-daire et al., Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism, J MED GENET, 37(11), 2000, pp. 875-877
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:
Xu, MQ
Feldman, G
Le Merrer, M
Shugart, YY
Glaser, DL
Urtizberea, JA
Fardeau, M
Connor, JM
Triffitt, J
Smith, R
Shore, EM
Kaplan, FS
Citation: Mq. Xu et al., Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP), CLIN GENET, 58(4), 2000, pp. 291-298
Authors:
Xavier, ABCF
Saraiva, JM
Le Merrer, M
Dagoneau, N
Huber, C
Penet, C
Munnich, A
Cormier-Daire, V
Citation: Abcf. Xavier et al., Genetic homogeneity of the Camurati-Engelmann disease, CLIN GENET, 58(2), 2000, pp. 150-152
Authors:
Shore, EM
Rogers, JG
Smith, R
Gannon, FH
Delatycki, M
Urtizberea, JA
Triffitt, J
Le Merrer, M
Kaplan, FS
Citation: Em. Shore et al., Fibrodysplasia ossificans progressiva, GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 211-236
Authors:
Hurvitz, JR
Suwairi, WM
Van Hul, W
El-Shanti, H
Superti-Furga, A
Roudier, J
Holderbaum, D
Pauli, RM
Herd, JK
Van Hul, E
Rezai-Delui, H
Legius, E
Le Merrer, M
Al-Alami, J
Bahabri, SA
Warman, ML
Citation: Jr. Hurvitz et al., Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia, NAT GENET, 23(1), 1999, pp. 94-98
Authors:
El Ghouzzi, V
Lajeunie, E
Le Merrer, M
Cormier-Daire, V
Renier, D
Munnich, A
Bonaventure, J
Citation: V. El Ghouzzi et al., Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome, EUR J HUM G, 7(1), 1999, pp. 27-33
Authors:
Cormier-Daire, V
Belin, V
Cusin, V
Viot, G
Girlich, D
Toutain, A
Moncla, A
Vekemans, M
Le Merrer, M
Munnich, A
Citation: V. Cormier-daire et al., SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome, ACT PAEDIAT, 88, 1999, pp. 55-59
Authors:
Heinz-Erian, P
Schmidt, H
Le Merrer, M
Phillips, AD
Kiess, W
Hadorn, HB
Citation: P. Heinz-erian et al., Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia, J PED GASTR, 28(2), 1999, pp. 203-205
Authors:
Briault, S
Odent, S
Lucas, J
Le Merrer, M
Turleau, C
Munnich, A
Moraine, C
Citation: S. Briault et al., Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome, AM J MED G, 86(2), 1999, pp. 112-114