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Results: 1-25 | 26-50 | 51-54
Results: 1-25/54
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling
Authors: Fuchs, S Amiel, J Claudel, S Lyonnet, S Corvol, P Pinet, F
Citation: S. Fuchs et al., Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling, MOL MED, 7(2), 2001, pp. 115-124
TP63 gene mutation in ADULT syndrome
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
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
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
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report
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
Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases
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
Impaired autonomic control of the heart by SOX10 mutation
Authors: Korsch, E Steinkuhle, J Massin, M Lyonnet, S Touraine, RL
Citation: E. Korsch et al., Impaired autonomic control of the heart by SOX10 mutation, EUR J PED, 160(1), 2001, pp. 68-69
Neurofibromatosis 1: recommendations for management
Authors: Pinson, S Creange, A Barbarot, S Stalder, JF Chaix, Y Rodriguez, D Sanson, M Bernheim, A D'Incan, M Doz, F Stoll, C Combemale, P Kalifa, C Zeller, J Teillac-Hamel, D Lyonnet, S Zerah, M Lacour, JP Guillot, B Wolkenstein, P
Citation: S. Pinson et al., Neurofibromatosis 1: recommendations for management, ANN DER VEN, 128(4), 2001, pp. 567-575
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome
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
PAX2 mutations in oligomeganephronia
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
Pierre Robin sequence: A series of 117 consecutive cases
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
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
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
Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study
Authors: Boudjemline, Y Fermont, L Le Bidois, J Lyonnet, S Sidi, D Bonnet, D
Citation: Y. Boudjemline et al., Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study, J PEDIAT, 138(4), 2001, pp. 520-524
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
Authors: Bahuau, M Pelet, A Vidaud, D Lamireau, T Le Bail, B Munnich, A Vidaud, M Lyonnet, S Lacombe, D
Citation: M. Bahuau et al., GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype, J MED GENET, 38(9), 2001, pp. 638-643
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
Authors: Edery, P Le Deist, F Briard, ML Debre, M Munnich, A Griscelli, C Fischer, A Lyonnet, S
Citation: P. Edery et al., B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?, J MED GENET, 38(7), 2001, pp. 488-492
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
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
Hirschsprung disease, associated syndromes, and genetics: a review
Authors: Amiel, J Lyonnet, S
Citation: J. Amiel et S. Lyonnet, Hirschsprung disease, associated syndromes, and genetics: a review, J MED GENET, 38(11), 2001, pp. 729-739
Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors
Authors: Castanet, M Polak, M Bonaiti-Pellie, C Lyonnet, S Czernichow, P Leger, J
Citation: M. Castanet et al., Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors, J CLIN END, 86(5), 2001, pp. 2009-2014
Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin
Authors: Sandrini, F Farmakidis, C Kirschner, LS Wu, SM Tullio-Pelet, A Lyonnet, S Metzger, DL Bourdony, CJ Tiosano, D Chan, WY Stratakis, CA
Citation: F. Sandrini et al., Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin, J CLIN END, 86(11), 2001, pp. 5433-5437
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
Authors: Kenwrick, S Woffendin, H Jakins, T Shuttleworth, SG Mayer, E Greenhalgh, L Whittaker, J Rugolotto, S Bardaro, T Esposito, T D'Urso, M Soli, F Turco, A Smahi, A Hamel-Teillac, D Lyonnet, S Bonnefont, JP Munnich, A Aradhya, S Kashork, CD Shaffer, LG Nelson, DL Levy, M Lewis, RA
Citation: S. Kenwrick et al., Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome, AM J HU GEN, 69(6), 2001, pp. 1210-1217
Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures
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
Mechanical properties of the common carotid artery in Williams syndrome
Authors: Aggoun, Y Sidi, D Levy, BI Lyonnet, S Kachaner, J Bonnet, D
Citation: Y. Aggoun et al., Mechanical properties of the common carotid artery in Williams syndrome, HEART, 84(3), 2000, pp. 290-293
Mutant WD-repeat protein in triple-A syndrome
Authors: Tullio-Pelet, A Salomon, R Hadj-Rabia, S Mugnier, C de Laet, MH Chaouachi, B Bakiri, F Brottier, P Cattolico, L Penet, C Begeot, M Naville, D Nicolino, M Chaussain, JL Weissenbach, J Munnich, R Lyonnet, S
Citation: A. Tullio-pelet et al., Mutant WD-repeat protein in triple-A syndrome, NAT GENET, 26(3), 2000, pp. 332-335
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome
Authors: Hadj-Rabia, S Salomon, R Pelet, A Penet, C Rotschild, A de Laet, MH Chaouachi, B Hannachi, R Bakiri, F Brauner, R Chaussain, JL Munnich, A Lyonnet, S
Citation: S. Hadj-rabia et al., Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome, EUR J HUM G, 8(8), 2000, pp. 613-620
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism
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
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation
Authors: Pingault, V Guiochon-Mantel, A Bondurand, N Faure, C Lacroix, C Lyonnet, S Goosens, M Landrieu, P
Citation: V. Pingault et al., Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation, ANN NEUROL, 48(4), 2000, pp. 671-676
Risultati: 1-25 | 26-50 | 51-54