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Results: 1-25 |
Results: 25
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
Authors: Prip-Buus, C Thuillier, L Abadi, N Prasad, C Dilling, L Klasing, J Demaugre, F Greenberg, CR Haworth, JC Droin, V Kadhom, N Gobin, S Kamoun, P Girard, J Bonnefont, JP
Citation: C. Prip-buus et al., Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community, MOL GEN MET, 73(1), 2001, pp. 46-54
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program
Authors: Prasad, C Johnson, JP Bonnefont, JP Dilling, LA Innes, AM Haworth, JC Beischel, L Thuillier, L Prip-Buus, C Singal, R Thompson, JRG Prasad, AN Buist, N Greenberg, CR
Citation: C. Prasad et al., Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program, MOL GEN MET, 73(1), 2001, pp. 55-63
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
Authors: Amiel, J Gigarel, N Benacki, A Benit, P Valnot, I Parfait, W Von Kleist-Retzow, JC Raclin, V Hadj-Rabia, S Dumez, Y Rustin, P Bonnefont, JP Munnich, A Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis
Authors: Benit, P Bonnefont, JP Mostefa, AK Francannet, C Munnich, A Ray, PF
Citation: P. Benit et al., Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis, PRENAT DIAG, 21(4), 2001, pp. 279-283
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
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
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography
Authors: Benit, P Kara-Mostefa, A Berthelon, M Sengmany, K Munnich, A Bonnefont, JP
Citation: P. Benit et al., Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography, HUM MUTAT, 16(5), 2000, pp. 417-421
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France
Authors: Claustres, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, C Girodon, E Cazeneuve, C Bienvenu, T Lalau, G Dumur, V Feldmann, D Bieth, E Blayau, M Clavel, C Creveaux, I Malinge, MC Monnier, N Malzac, P Mittre, H Chomel, JC Bonnefont, JP Iron, A Chery, M Des Georges, M
Citation: M. Claustres et al., Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France, HUM MUTAT, 16(2), 2000, pp. 143-156
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
Authors: Thuillier, L Sevin, C Demaugre, F Brivet, M Rabier, D Droin, V Aupetit, J Abadi, N Kamoun, P Saudubray, JM Bonnefont, JP
Citation: L. Thuillier et al., Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient, NEUROMUSC D, 10(3), 2000, pp. 200-205
Prenatal diagnosis in autosomal recessive polycystic kidney disease
Authors: Gagnadoux, MF Attie, T Amiel, J Gigarel, N Bonnefont, JP Munnich, A Gubler, MC Antignac, C
Citation: Mf. Gagnadoux et al., Prenatal diagnosis in autosomal recessive polycystic kidney disease, ARCH PED, 7(9), 2000, pp. 942-947
Normal sweat test does not exclude the diagnosis of cystic fibrosis
Authors: Sermet-Gaudelus, I Bonnefont, JP Khoa, ATN Lenoir, G
Citation: I. Sermet-gaudelus et al., Normal sweat test does not exclude the diagnosis of cystic fibrosis, ARCH PED, 7(6), 2000, pp. 594-596
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
Authors: Urban, Z Michels, VV Thibodeau, SN Davis, EC Bonnefont, JP Munnich, A Eyskens, B Gewillig, M Devriendt, K Boyd, CD
Citation: Z. Urban et al., Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay, HUM GENET, 106(6), 2000, pp. 577-588
Improvement of cystic fibrosis using antitumoral drugs: a hypothesis
Authors: Faivre, L Bonnefont, JP Lyonnet, S Munnich, A Vekemans, M
Citation: L. Faivre et al., Improvement of cystic fibrosis using antitumoral drugs: a hypothesis, MED HYPOTH, 54(4), 2000, pp. 580-581
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
Authors: Ray, PF Gigarel, N Bonnefont, JP Attie, T Hamamah, S Frydman, N Vekemans, M Frydman, R Munnich, A
Citation: Pf. Ray et al., First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, PRENAT DIAG, 20(13), 2000, pp. 1048-1054
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
Authors: Saudubray, JM De Lonlay, P Touati, G Martin, D Nassogne, MC Castelnau, P Sevin, C Laborde, C Baussan, C Brivet, M Vassault, A Rabier, D Bonnefont, JP Kamoun, P
Citation: Jm. Saudubray et al., Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis, J INH MET D, 23(3), 2000, pp. 197-214
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
Authors: Valnot, I Osmond, S Gigarel, N Mehaye, B Amiel, J Cormier-Daire, V Munnich, A Bonnefont, JP Rustin, P Rotig, A
Citation: I. Valnot et al., Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy, AM J HU GEN, 67(5), 2000, pp. 1104-1109
Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus
Authors: Houdayer, C Lemonnier, A Gerard, M Chauve, C Tredano, M de Villemeur, TB Aymard, P Bonnefont, JP Feldmann, D
Citation: C. Houdayer et al., Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus, CLIN CH L M, 37(4), 1999, pp. 397-401
Carnitine palmitoyltransferase deficiencies
Authors: Bonnefont, JP Demaugre, F Prip-Buus, C Saudubray, JM Brivet, M Abadi, N Thuillier, L
Citation: Jp. Bonnefont et al., Carnitine palmitoyltransferase deficiencies, MOL GEN MET, 68(4), 1999, pp. 424-440
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations
Authors: Benit, P Kara-Mostefa, A Hadj-Rabia, S Munnich, A Bonnefont, JP
Citation: P. Benit et al., Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations, HUM MUTAT, 14(5), 1999, pp. 428-432
Defects in activation and transport of fatty acids
Authors: Brivet, M Boutron, A Slama, A Costa, C Thuillier, L Demaugre, F Rabier, D Saudubray, JM Bonnefont, JP
Citation: M. Brivet et al., Defects in activation and transport of fatty acids, J INH MET D, 22(4), 1999, pp. 428-441
Recognition and management of fatty acid oxidation defects: A series of 107 patients
Authors: Saudubray, JM Martin, D de Lonlay, P Touati, G Poggi-Travert, F Bonnet, D Jouvet, P Boutron, M Slama, A Vianey-Saban, C Bonnefont, JP Rabier, D Kamoun, P Brivet, M
Citation: Jm. Saudubray et al., Recognition and management of fatty acid oxidation defects: A series of 107 patients, J INH MET D, 22(4), 1999, pp. 488-502
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
Authors: Villard, L Bonino, MC Abidi, F Ragusa, A Belougne, J Lossi, AM Seaver, L Bonnefont, JP Romano, C Fichera, M Lacombe, D Hanauer, A Philip, N Schwartz, C Fontes, M
Citation: L. Villard et al., Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome, J MED GENET, 36(3), 1999, pp. 183-186
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism
Authors: Kara-Mostefa, A Raoul, O Lyonnet, S Amiel, J Munnich, A Vekemans, M Magnier, S Ossareh, B Bonnefont, JP
Citation: A. Kara-mostefa et al., Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism, AM J HU GEN, 64(5), 1999, pp. 1475-1478
Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved
Authors: Des Georges, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, C Girodon, E Cazeneuve, C Bienvenu, T Lalau, G Dumur, V Feldmann, D Bieth, E Blayau, M Clavel, C Creveaux, I Malinge, MC Monnier, N Malzac, P Mittre, H Bonnefont, JP Iron, A Chomel, JC Chery, M Claustres, M
Citation: M. Des Georges et al., Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved, M S-MED SCI, 14(12), 1998, pp. 1413-1421
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
Authors: Thuillier, L Chadefaux-Vekemans, B Bonnefont, JP Kara, A Aupetit, J Rochette, C Montalescot, G Couty, MC Kamoun, P Ankri, A
Citation: L. Thuillier et al., Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?, J INH MET D, 21(8), 1998, pp. 812-822
Risultati: 1-25 |