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Results: 1-21 |
Results: 21
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
New syndrome? Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome
Authors: Attia-Sobol, J Encha-Razavi, F Hermier, M Vitrey, D Verloes, A Plauchu, H
Citation: J. Attia-sobol et al., New syndrome? Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome, AM J MED G, 99(1), 2001, pp. 14-20
Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies
Authors: Golfier, F Peyrol, S Attia-Sobol, J Marret, H Raudrant, D Plauchu, H
Citation: F. Golfier et al., Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies, CLIN GENET, 60(3), 2001, pp. 240-241
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
Authors: Martin-Denavit, T Duthel, S Giraud, S Olschwang, S Saurin, JC Plauchu, H
Citation: T. Martin-denavit et al., Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?, CLIN GENET, 60(2), 2001, pp. 125-131
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype
Authors: Urban, Z Peyrol, S Plauchu, H Zabot, MT Lebwohl, M Schilling, K Green, M Boyd, CD Csiszar, K
Citation: Z. Urban et al., Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype, PEDIAT DERM, 17(1), 2000, pp. 12-20
Hepatic vascular malformations in Rendu-Osler disease
Authors: Saurin, JC Dumortier, J Menard, Y Henry, L Boillot, O Plauchu, H Paliard, P
Citation: Jc. Saurin et al., Hepatic vascular malformations in Rendu-Osler disease, GASTRO CL B, 24(1), 2000, pp. 89-93
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
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
Authors: Shovlin, CL Guttmacher, AE Buscarini, E Faughnan, ME Hyland, RH Westermann, CJJ Kjeldsen, AD Plauchu, H
Citation: Cl. Shovlin et al., Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome), AM J MED G, 91(1), 2000, pp. 66-67
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia)
Authors: Ziani, M Valignat, C Lopez, JG Ruffion, A Plauchu, H Perrin, P
Citation: M. Ziani et al., Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia), J UROL, 164(4), 2000, pp. 1292-1293
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
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
Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene
Authors: Hagan, DM Ross, AJ Strachan, T Lynch, SA Ruiz-Perez, V Wang, YM Scambler, P Custard, E Reardon, W Hassan, S Muenke, M Nixon, P Papapetrou, C Winter, RM Edwards, Y Morrison, K Barrow, M Cordier-Alex, MP Correia, P Galvin-Parton, PA Gaskill, S Gaskin, KJ Garcia-Minaur, S Gereige, R Hayward, R Homfray, T McKeown, C Murday, V Plauchu, H Shannon, N Spitz, L Lindsay, S
Citation: Dm. Hagan et al., Mutation analysis and embryonic expression of the HLXB9 Currarino syndromegene, AM J HU GEN, 66(5), 2000, pp. 1504-1515
Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss
Authors: Alloisio, N Morle, L Bozon, M Godet, J Verhoeven, K Van Camp, G Plauchu, H Muller, P Collet, L Lina-Granade, G
Citation: N. Alloisio et al., Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss, EUR J HUM G, 7(2), 1999, pp. 255-258
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14
Authors: Zech, JC Morle, L Vincent, P Alloisio, N Bozon, M Gonnot, C Milazzo, S Grange, JD Trepsat, C Godet, J Plauchu, H
Citation: Jc. Zech et al., Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14, GR ARCH CL, 237(5), 1999, pp. 387-393
Type IV Ehlers-Danlos syndrome: diagnosis 17 years after intestinal manifestations
Authors: Zenone, T Grange, C Pelissier, P Zabot, MT Plauchu, H Durand, DV Levrat, R
Citation: T. Zenone et al., Type IV Ehlers-Danlos syndrome: diagnosis 17 years after intestinal manifestations, REV MED IN, 20(6), 1999, pp. 538-539
Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement
Authors: Boillot, O Bianco, F Viale, JP Mion, F Mechet, I Gille, D Delaye, J Paliard, P Plauchu, H
Citation: O. Boillot et al., Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement, GASTROENTY, 116(1), 1999, pp. 187-192
Macular dystrophy of malattia leventinese. A 25 year follow up
Authors: Zech, JC Zaouche, S Mourier, F Plauchu, H Grange, JD Trepsat, C
Citation: Jc. Zech et al., Macular dystrophy of malattia leventinese. A 25 year follow up, BR J OPHTH, 83(10), 1999, pp. 1195-1196
Ehlers-Danlos syndrome and spontaneous colonic perforation: report of one case.
Authors: Lopez, JF Plauchu, H Monod, P
Citation: Jf. Lopez et al., Ehlers-Danlos syndrome and spontaneous colonic perforation: report of one case., ANN CHIR, 53(1), 1999, pp. 92-92
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene
Authors: Satre, V Monnier, N Berthoin, F Ayuso, C Joannard, A Jouk, PS Lopez-Pajares, I Megabarne, A Philippe, HJ Plauchu, H Torres, ML Lunardi, J
Citation: V. Satre et al., Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene, AM J HU GEN, 65(1), 1999, pp. 68-76
Predictive medicine: new avenues of molecular genetics. For which benefit?
Authors: Plauchu, H
Citation: H. Plauchu, Predictive medicine: new avenues of molecular genetics. For which benefit?, PUBLIC HEALTH AND UNIVERSAL ETHICS, 1999, pp. 95-102
Risultati: 1-21 |