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Results: 1-25 | 26-30
Results: 1-25/30
RECURRENT MEIOTIC NONDISJUNCTION OF MATERNAL CHROMOSOME-15 IN A SIBSHIP
Authors: HARPEY JP HERON D PRUDENT M LESOURD S HENRY I ROYERLEGRAIN G MUNNICH A BONNEFONT JP
Citation: Jp. Harpey et al., RECURRENT MEIOTIC NONDISJUNCTION OF MATERNAL CHROMOSOME-15 IN A SIBSHIP, American journal of medical genetics, 76(1), 1998, pp. 103-104
PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS
Authors: BONNEFONT JP THUILLIER L GIGAREL N ROCHETTE C BRIARD ML MUNNICH A
Citation: Jp. Bonnefont et al., PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS, Pediatric pulmonology, 1997, pp. 63-64
THE 677C-T MUTATION IN THE METHYLENE-TETRAHYDROFOLATE REDUCTASE GENE IS NOT RELATED TO HYPERHOMOCYSTEINEMIA IN THROMBOTIC DISEASE
Authors: ANKRI A BONNEFONT JP CHADEFAUXVEKEMANS B MOSTEFA AK AUPETIT J COUTY MC MONTALESCOT G KAMOUN P THUILLIER L
Citation: A. Ankri et al., THE 677C-T MUTATION IN THE METHYLENE-TETRAHYDROFOLATE REDUCTASE GENE IS NOT RELATED TO HYPERHOMOCYSTEINEMIA IN THROMBOTIC DISEASE, Thrombosis and haemostasis, 1997, pp. 2160-2160
TOLERANCE TO STARVATION IN CHILDREN ON LONG-TERM TOTAL PARENTERAL-NUTRITION
Authors: FRANCOIS B COLOMB V BONNEFONT JP GOULET O BENHARIZ M VASSAULT A RABIER D RICOUR C
Citation: B. Francois et al., TOLERANCE TO STARVATION IN CHILDREN ON LONG-TERM TOTAL PARENTERAL-NUTRITION, Clinical nutrition, 16(3), 1997, pp. 113-117
DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY
Authors: SOUIED E PISELLA PJ OSSAREH B BREZIN A JUNES P WILDDECRETTE C MUNNICH A BONNEFONT JP MONDON H
Citation: E. Souied et al., DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY, Journal francais d'ophtalmologie, 20(1), 1997, pp. 65-70
SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA AND ENDORSES PARTIAL PANCREATECTOMY
Authors: DELONLAY P FOURNET JC RAHIER J GROSSMORAND MS POGGITRAVERT F FOUSSIER V BONNEFONT JP BRUSSET MC BRUNELLE F ROBERT JJ NIHOULFEKETE C SAUDUBRAY JM JUNIEN C
Citation: P. Delonlay et al., SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA AND ENDORSES PARTIAL PANCREATECTOMY, The Journal of clinical investigation, 100(4), 1997, pp. 802-807
THE MUSCULAR FORM OF CARNITINE PALMITOYLTRANSFERASE-II (CPT-II) EXPOSES TO SEVERE CARDIAC DYSFUNCTION, DEPENDING ON THE TYPE OF CPT-II MUTATIONS
Authors: THUILLIER L SEVIN C DEMAUGRE F SAUDUBRAY JM RABIER D BRIVET M DROUIN V CADOUDAL M BONNEFONT JP
Citation: L. Thuillier et al., THE MUSCULAR FORM OF CARNITINE PALMITOYLTRANSFERASE-II (CPT-II) EXPOSES TO SEVERE CARDIAC DYSFUNCTION, DEPENDING ON THE TYPE OF CPT-II MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 1529-1529
A 26-KILOBASE DELETION SPANNING CFTR EXON-17A TO EXON-18 AND INTRON-19 IN CYSTIC-FIBROSIS (CF)
Authors: GIGAREL N DEDREUZY P THUILLIER L ROCHETTE C LENOIR G MUNNICH A BONNEFONT JP
Citation: N. Gigarel et al., A 26-KILOBASE DELETION SPANNING CFTR EXON-17A TO EXON-18 AND INTRON-19 IN CYSTIC-FIBROSIS (CF), American journal of human genetics, 61(4), 1997, pp. 2400-2400
MITOCHONDRIAL DIABETES-MELLITUS
Authors: ROTIG A BONNEFONT JP MUNNICH A
Citation: A. Rotig et al., MITOCHONDRIAL DIABETES-MELLITUS, Diabetes & metabolism, 22(5), 1996, pp. 291-298
A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/
Authors: SEGUES B VEBER PS RABIER D CALVAS P SAUDUBRAY JM GILBERTDUSSARDIER B BONNEFONT JP MUNNICH A
Citation: B. Segues et al., A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/, Human mutation, 8(4), 1996, pp. 373-374
ADVANCES IN GENETICS - WHAT BENEFIT FOR C HILDREN
Authors: LYONNET S BONNEFONT JP BRIARD ML MUNNICH A
Citation: S. Lyonnet et al., ADVANCES IN GENETICS - WHAT BENEFIT FOR C HILDREN, La Presse medicale, 25(33), 1996, pp. 1575-1576
MOST CASES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ESCAPE DETECTION IN FRANCE
Authors: FROMENTY B MANSOURI A BONNEFONT JP COURTOIS F MUNNICH A RABIER D PESSAYRE D
Citation: B. Fromenty et al., MOST CASES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ESCAPE DETECTION IN FRANCE, Human genetics, 97(3), 1996, pp. 367-368
CLINICAL OUTCOME AND LONG-TERM MANAGEMENT OF 17 PATIENTS WITH PROPIONIC ACIDEMIA
Authors: VANDERMEER SB POGGI F SPADA M BONNEFONT JP OGIER H HUBERT P DEPONDT E RAPOPORT D RABIER D CHARPENTIER C PARVY P BARDET J KAMOUN P SAUDUBRAY JM
Citation: Sb. Vandermeer et al., CLINICAL OUTCOME AND LONG-TERM MANAGEMENT OF 17 PATIENTS WITH PROPIONIC ACIDEMIA, European journal of pediatrics, 155(3), 1996, pp. 205-210
METABOLIC INTERMEDIATES IN LACTIC-ACIDOSIS - COMPOUNDS, SAMPLES AND INTERPRETATION
Authors: POGGITRAVERT F MARTIN D DEVILLEMEUR TB BONNEFONT JP VASSAULT A RABIER D CHARPENTIER C KAMOUN P MUNNICH A SAUDUBRAY JM
Citation: F. Poggitravert et al., METABOLIC INTERMEDIATES IN LACTIC-ACIDOSIS - COMPOUNDS, SAMPLES AND INTERPRETATION, Journal of inherited metabolic disease, 19(4), 1996, pp. 478-488
CLINICAL PRESENTATION OF MITOCHONDRIAL DISORDERS IN CHILDHOOD
Authors: MUNNICH A ROTIG A CHRETIEN D CORMIER V BOURGERON T BONNEFONT JP SAUDUBRAY JM RUSTIN P
Citation: A. Munnich et al., CLINICAL PRESENTATION OF MITOCHONDRIAL DISORDERS IN CHILDHOOD, Journal of inherited metabolic disease, 19(4), 1996, pp. 521-527
BRAIN-STEM INVOLVEMENT IN LEBERS HEREDITARY OPTIC NEUROPATHY - ASSOCIATION WITH THE 14,484 MITOCHONDRIAL-DNA MUTATION
Authors: FUNALOT B RANOUX D MAS JL GARCIA C BONNEFONT JP
Citation: B. Funalot et al., BRAIN-STEM INVOLVEMENT IN LEBERS HEREDITARY OPTIC NEUROPATHY - ASSOCIATION WITH THE 14,484 MITOCHONDRIAL-DNA MUTATION, Journal of Neurology, Neurosurgery and Psychiatry, 61(5), 1996, pp. 533-534
MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION
Authors: BONNEFONT JP TARONI F CAVADINI P CEPANEC C BRIVET M SAUDUBRAY JM LEROUX JP DEMAUGRE F
Citation: Jp. Bonnefont et al., MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION, American journal of human genetics, 58(5), 1996, pp. 971-978
CYTOCHROME-C-OXIDASE DEFICIENCY PRESENTING AS RECURRENT NEONATAL MYOGLOBINURIA
Authors: SAUNIER P CHRETIEN D WOOD C ROTIG A BONNEFONT JP SAUDUBRAY JM RABIER D MUNNICH A RUSTIN P
Citation: P. Saunier et al., CYTOCHROME-C-OXIDASE DEFICIENCY PRESENTING AS RECURRENT NEONATAL MYOGLOBINURIA, Neuromuscular disorders, 5(4), 1995, pp. 285-289
APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: SEGUES B ROZET JM GILBERT B SAUGIERVEBER P RABIER D SAUDUBRAY JM CARRE M ROULEAU FP MENGET A BONARDI JM LYONNET S BONNEFONT JP MUNNICH A
Citation: B. Segues et al., APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Prenatal diagnosis, 15(8), 1995, pp. 757-761
POINT MUTATION OF THE MITOCHONDRIAL TRNA(LEU) GENE (A-3243-G) IN MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY, DIABETES-MELLITUS, RENAL-FAILURE, AND SENSORINEURAL DEAFNESS
Authors: MANOUVRIER S ROTIG A HANNEBIQUE G GHEERBRANDT JD ROYERLEGRAIN G MUNNICH A PARENT M GRUNFELD JP LARGILLIERE C LOMBES A BONNEFONT JP
Citation: S. Manouvrier et al., POINT MUTATION OF THE MITOCHONDRIAL TRNA(LEU) GENE (A-3243-G) IN MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY, DIABETES-MELLITUS, RENAL-FAILURE, AND SENSORINEURAL DEAFNESS, Journal of Medical Genetics, 32(8), 1995, pp. 654-656
COEXISTENCE OF INDIVIDUALS WITH PATERNAL AND MATERNAL UNIPARENTAL DISOMY IN A SINGLE SIBSHIP
Authors: HARPEY JP HERON D HENRY I ROYERLEGRAIN G LESOURD S PRUDENT M MUNNICH A BONNEFONT JP
Citation: Jp. Harpey et al., COEXISTENCE OF INDIVIDUALS WITH PATERNAL AND MATERNAL UNIPARENTAL DISOMY IN A SINGLE SIBSHIP, American journal of human genetics, 57(4), 1995, pp. 1394-1394
PROXIMAL TRISOMY-15 ASSOCIATED WITH ANGELMAN PHENOTYPE IN MONOZYGOTICTWINS
Authors: HERON D HARPEY JP HENRY I LESOURD S PRUDENT M MUNNICH A BONNEFONT JP
Citation: D. Heron et al., PROXIMAL TRISOMY-15 ASSOCIATED WITH ANGELMAN PHENOTYPE IN MONOZYGOTICTWINS, American journal of human genetics, 57(4), 1995, pp. 1961-1961
A NOVEL ARGININE-(245) TO GLUTAMINE CHANGE IN EXON-8 OF THE ORNITHINECARBAMOYL TRANSFERASE GENE IN 2 UNRELATED CHILDREN PRESENTING WITH LATE-ONSET DEFICIENCY AND SHOWING THE SAME ENZYMATIC PATTERN
Authors: GILBERTDUSSARDIER B RABIER D STRAUTNIEKS S SEGUES B BONNEFONT JP MUNNICH A
Citation: B. Gilbertdussardier et al., A NOVEL ARGININE-(245) TO GLUTAMINE CHANGE IN EXON-8 OF THE ORNITHINECARBAMOYL TRANSFERASE GENE IN 2 UNRELATED CHILDREN PRESENTING WITH LATE-ONSET DEFICIENCY AND SHOWING THE SAME ENZYMATIC PATTERN, Human molecular genetics, 3(5), 1994, pp. 831-832
ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME
Authors: AMIEL J GAGEY V RABIER D DORCHE C BONNEFONT JP DUFIER JL SAUDUBRAY JM REY J MUNNICH A
Citation: J. Amiel et al., ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME, Archives de pediatrie, 1(11), 1994, pp. 1023-1027
PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS
Authors: RIZZO WB CRAFT DA KELSON TL BONNEFONT JP SAUDUBRAY JM SCHULMAN JD BLACK SH TABSH K DIROCCO M GARDNER RJM
Citation: Wb. Rizzo et al., PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS, Prenatal diagnosis, 14(7), 1994, pp. 577-581
Risultati: 1-25 | 26-30