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Results: 1-12 |
Results: 12
Problems in the diagnosis and implications in genetic counseling for a family affected by two distinct neuromuscular disorders.
Authors: Lesca, G Ollagnon-Roman, E Lachanat, J Dusser, A Edery, P Jeanpierre, M Plauchu, H
Citation: G. Lesca et al., Problems in the diagnosis and implications in genetic counseling for a family affected by two distinct neuromuscular disorders., ARCH PED, 8(9), 2001, pp. 957-960
Genetic hearing impairment: the primary cause of sensorineural hearing defects in the child.
Authors: Lina-Granade, G Morle, L Alloisio, N Edery, P Plauchu, H Truy, E Disant, F Collet, L
Citation: G. Lina-granade et al., Genetic hearing impairment: the primary cause of sensorineural hearing defects in the child., ARCH PED, 8(3), 2001, pp. 308-312
Mitochondrial respiratory chain deficiency revealed by hypothermia
Authors: Cholley, F Edery, P Ricquier, D Peudenier, S Slama, A Tardieu, M
Citation: F. Cholley et al., Mitochondrial respiratory chain deficiency revealed by hypothermia, NEUROPEDIAT, 32(2), 2001, pp. 104-106
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
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
Authors: Bordeaux, MC Forcet, C Granger, L Corset, V Bidaud, C Billaud, M Bredesen, DE Edery, P Mehlen, P
Citation: Mc. Bordeaux et al., The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease, EMBO J, 19(15), 2000, pp. 4056-4063
Ectodermal abnormalities associated with methimazole intrauterine exposure
Authors: Martin-Denavit, T Edery, P Plauchu, H Attia-Sobol, J Raudrant, D Aurand, JM Thomas, L
Citation: T. Martin-denavit et al., Ectodermal abnormalities associated with methimazole intrauterine exposure, AM J MED G, 94(4), 2000, pp. 338-340
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q(10) deficiency
Authors: Rotig, A Appelkvist, EL Geromel, V Chretien, D Kadhom, N Edery, P Lebideau, M Dallner, G Munnich, A Ernster, L Rustin, P
Citation: A. Rotig et al., Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q(10) deficiency, LANCET, 356(9227), 2000, pp. 391-395
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
Authors: Morle, L Bozon, M Alloisio, N Latour, P Vandenberghe, A Plauchu, H Collet, L Edery, P Godet, J Lina-Granade, G
Citation: L. Morle et al., A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss, J MED GENET, 37(5), 2000, pp. 368-370
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q
Authors: Faivre, L Radford, I Viot, G Edery, P Munnich, A Tardieu, M Vekemans, M
Citation: L. Faivre et al., Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q, ANN GENET, 43(1), 2000, pp. 35-38
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15
Authors: Morle, L Bozon, M Zech, JC Alloisio, N Raas-Rothschild, A Philippe, C Lambert, JC Godet, J Plauchu, H Edery, P
Citation: L. Morle et al., A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15, AM J HU GEN, 67(6), 2000, pp. 1592-1597
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
Authors: Favire, L Morichon-Delvallez, N Viot, G Martinovic, J Pinson, MP Aubry, JP Raclin, V Edery, P Dumez, Y Munnich, A Vekemans, M
Citation: L. Favire et al., Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature, PRENAT DIAG, 19(1), 1999, pp. 49-53
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood
Authors: de Lonlay-Debeney, P Edery, P Cormier-Daire, V Parfait, B Chretien, D Rotig, A Romero, N Saudubray, JM Munnich, A Rustin, P
Citation: P. De Lonlay-debeney et al., Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood, NEUROPEDIAT, 30(1), 1999, pp. 42-44
Risultati: 1-12 |