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    1. 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
      Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community

      MOLECULAR GENETICS AND METABOLISM
    2. 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
      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

      MOLECULAR GENETICS AND METABOLISM
    3. 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
      Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

      PRENATAL DIAGNOSIS
    4. Benit, P; Bonnefont, JP; Mostefa, AK; Francannet, C; Munnich, A; Ray, PF
      Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

      PRENATAL DIAGNOSIS
    5. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    6. 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
      Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Benit, P; Kara-Mostefa, A; Berthelon, M; Sengmany, K; Munnich, A; Bonnefont, JP
      Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

      HUMAN MUTATION
    8. 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
      Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France

      HUMAN MUTATION
    9. Thuillier, L; Sevin, C; Demaugre, F; Brivet, M; Rabier, D; Droin, V; Aupetit, J; Abadi, N; Kamoun, P; Saudubray, JM; Bonnefont, JP
      Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

      NEUROMUSCULAR DISORDERS
    10. Gagnadoux, MF; Attie, T; Amiel, J; Gigarel, N; Bonnefont, JP; Munnich, A; Gubler, MC; Antignac, C
      Prenatal diagnosis in autosomal recessive polycystic kidney disease

      ARCHIVES DE PEDIATRIE
    11. Sermet-Gaudelus, I; Bonnefont, JP; Khoa, ATN; Lenoir, G
      Normal sweat test does not exclude the diagnosis of cystic fibrosis

      ARCHIVES DE PEDIATRIE
    12. Urban, Z; Michels, VV; Thibodeau, SN; Davis, EC; Bonnefont, JP; Munnich, A; Eyskens, B; Gewillig, M; Devriendt, K; Boyd, CD
      Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

      HUMAN GENETICS
    13. Faivre, L; Bonnefont, JP; Lyonnet, S; Munnich, A; Vekemans, M
      Improvement of cystic fibrosis using antitumoral drugs: a hypothesis

      MEDICAL HYPOTHESES
    14. Ray, PF; Gigarel, N; Bonnefont, JP; Attie, T; Hamamah, S; Frydman, N; Vekemans, M; Frydman, R; Munnich, A
      First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

      PRENATAL DIAGNOSIS
    15. 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
      Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

      JOURNAL OF INHERITED METABOLIC DISEASE
    16. Valnot, I; Osmond, S; Gigarel, N; Mehaye, B; Amiel, J; Cormier-Daire, V; Munnich, A; Bonnefont, JP; Rustin, P; Rotig, A
      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    17. Houdayer, C; Lemonnier, A; Gerard, M; Chauve, C; Tredano, M; de Villemeur, TB; Aymard, P; Bonnefont, JP; Feldmann, D
      Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    18. Bonnefont, JP; Demaugre, F; Prip-Buus, C; Saudubray, JM; Brivet, M; Abadi, N; Thuillier, L
      Carnitine palmitoyltransferase deficiencies

      MOLECULAR GENETICS AND METABOLISM
    19. Benit, P; Kara-Mostefa, A; Hadj-Rabia, S; Munnich, A; Bonnefont, JP
      Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

      HUMAN MUTATION
    20. Brivet, M; Boutron, A; Slama, A; Costa, C; Thuillier, L; Demaugre, F; Rabier, D; Saudubray, JM; Bonnefont, JP
      Defects in activation and transport of fatty acids

      JOURNAL OF INHERITED METABOLIC DISEASE
    21. 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
      Recognition and management of fatty acid oxidation defects: A series of 107 patients

      JOURNAL OF INHERITED METABOLIC DISEASE
    22. 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
      Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

      JOURNAL OF MEDICAL GENETICS
    23. Kara-Mostefa, A; Raoul, O; Lyonnet, S; Amiel, J; Munnich, A; Vekemans, M; Magnier, S; Ossareh, B; Bonnefont, JP
      Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. 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
      Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved

      M S-MEDECINE SCIENCES
    25. HARPEY JP; HERON D; PRUDENT M; LESOURD S; HENRY I; ROYERLEGRAIN G; MUNNICH A; BONNEFONT JP
      RECURRENT MEIOTIC NONDISJUNCTION OF MATERNAL CHROMOSOME-15 IN A SIBSHIP

      American journal of medical genetics
    26. Thuillier, L; Chadefaux-Vekemans, B; Bonnefont, JP; Kara, A; Aupetit, J; Rochette, C; Montalescot, G; Couty, MC; Kamoun, P; Ankri, A
      Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. BONNEFONT JP; THUILLIER L; GIGAREL N; ROCHETTE C; BRIARD ML; MUNNICH A
      PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS

      Pediatric pulmonology
    28. ANKRI A; BONNEFONT JP; CHADEFAUXVEKEMANS B; MOSTEFA AK; AUPETIT J; COUTY MC; MONTALESCOT G; KAMOUN P; THUILLIER L
      THE 677C-T MUTATION IN THE METHYLENE-TETRAHYDROFOLATE REDUCTASE GENE IS NOT RELATED TO HYPERHOMOCYSTEINEMIA IN THROMBOTIC DISEASE

      Thrombosis and haemostasis
    29. FRANCOIS B; COLOMB V; BONNEFONT JP; GOULET O; BENHARIZ M; VASSAULT A; RABIER D; RICOUR C
      TOLERANCE TO STARVATION IN CHILDREN ON LONG-TERM TOTAL PARENTERAL-NUTRITION

      Clinical nutrition
    30. SOUIED E; PISELLA PJ; OSSAREH B; BREZIN A; JUNES P; WILDDECRETTE C; MUNNICH A; BONNEFONT JP; MONDON H
      DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY

      Journal francais d'ophtalmologie
    31. 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
      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
    32. THUILLIER L; SEVIN C; DEMAUGRE F; SAUDUBRAY JM; RABIER D; BRIVET M; DROUIN V; CADOUDAL M; BONNEFONT JP
      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
    33. GIGAREL N; DEDREUZY P; THUILLIER L; ROCHETTE C; LENOIR G; MUNNICH A; BONNEFONT JP
      A 26-KILOBASE DELETION SPANNING CFTR EXON-17A TO EXON-18 AND INTRON-19 IN CYSTIC-FIBROSIS (CF)

      American journal of human genetics
    34. ROTIG A; BONNEFONT JP; MUNNICH A
      MITOCHONDRIAL DIABETES-MELLITUS

      Diabetes & metabolism
    35. SEGUES B; VEBER PS; RABIER D; CALVAS P; SAUDUBRAY JM; GILBERTDUSSARDIER B; BONNEFONT JP; MUNNICH A
      A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/

      Human mutation
    36. LYONNET S; BONNEFONT JP; BRIARD ML; MUNNICH A
      ADVANCES IN GENETICS - WHAT BENEFIT FOR C HILDREN

      La Presse medicale
    37. FROMENTY B; MANSOURI A; BONNEFONT JP; COURTOIS F; MUNNICH A; RABIER D; PESSAYRE D
      MOST CASES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ESCAPE DETECTION IN FRANCE

      Human genetics
    38. 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
      CLINICAL OUTCOME AND LONG-TERM MANAGEMENT OF 17 PATIENTS WITH PROPIONIC ACIDEMIA

      European journal of pediatrics
    39. POGGITRAVERT F; MARTIN D; DEVILLEMEUR TB; BONNEFONT JP; VASSAULT A; RABIER D; CHARPENTIER C; KAMOUN P; MUNNICH A; SAUDUBRAY JM
      METABOLIC INTERMEDIATES IN LACTIC-ACIDOSIS - COMPOUNDS, SAMPLES AND INTERPRETATION

      Journal of inherited metabolic disease
    40. MUNNICH A; ROTIG A; CHRETIEN D; CORMIER V; BOURGERON T; BONNEFONT JP; SAUDUBRAY JM; RUSTIN P
      CLINICAL PRESENTATION OF MITOCHONDRIAL DISORDERS IN CHILDHOOD

      Journal of inherited metabolic disease
    41. FUNALOT B; RANOUX D; MAS JL; GARCIA C; BONNEFONT JP
      BRAIN-STEM INVOLVEMENT IN LEBERS HEREDITARY OPTIC NEUROPATHY - ASSOCIATION WITH THE 14,484 MITOCHONDRIAL-DNA MUTATION

      Journal of Neurology, Neurosurgery and Psychiatry
    42. BONNEFONT JP; TARONI F; CAVADINI P; CEPANEC C; BRIVET M; SAUDUBRAY JM; LEROUX JP; DEMAUGRE F
      MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION

      American journal of human genetics
    43. SAUNIER P; CHRETIEN D; WOOD C; ROTIG A; BONNEFONT JP; SAUDUBRAY JM; RABIER D; MUNNICH A; RUSTIN P
      CYTOCHROME-C-OXIDASE DEFICIENCY PRESENTING AS RECURRENT NEONATAL MYOGLOBINURIA

      Neuromuscular disorders
    44. 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
      APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA

      Prenatal diagnosis
    45. MANOUVRIER S; ROTIG A; HANNEBIQUE G; GHEERBRANDT JD; ROYERLEGRAIN G; MUNNICH A; PARENT M; GRUNFELD JP; LARGILLIERE C; LOMBES A; BONNEFONT JP
      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
    46. HARPEY JP; HERON D; HENRY I; ROYERLEGRAIN G; LESOURD S; PRUDENT M; MUNNICH A; BONNEFONT JP
      COEXISTENCE OF INDIVIDUALS WITH PATERNAL AND MATERNAL UNIPARENTAL DISOMY IN A SINGLE SIBSHIP

      American journal of human genetics
    47. HERON D; HARPEY JP; HENRY I; LESOURD S; PRUDENT M; MUNNICH A; BONNEFONT JP
      PROXIMAL TRISOMY-15 ASSOCIATED WITH ANGELMAN PHENOTYPE IN MONOZYGOTICTWINS

      American journal of human genetics
    48. GILBERTDUSSARDIER B; RABIER D; STRAUTNIEKS S; SEGUES B; BONNEFONT JP; MUNNICH A
      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
    49. AMIEL J; GAGEY V; RABIER D; DORCHE C; BONNEFONT JP; DUFIER JL; SAUDUBRAY JM; REY J; MUNNICH A
      ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME

      Archives de pediatrie
    50. RIZZO WB; CRAFT DA; KELSON TL; BONNEFONT JP; SAUDUBRAY JM; SCHULMAN JD; BLACK SH; TABSH K; DIROCCO M; GARDNER RJM
      PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS

      Prenatal diagnosis
    51. MARQUET J; CHADEFAUX B; BONNEFONT JP; SAUDUBRAY JM; ZITTOUN J
      METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY - PRENATAL-DIAGNOSIS AND FAMILY STUDIES

      Prenatal diagnosis
    52. 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
      CLINICAL OUTCOME OF LONG-TERM MANAGEMENT OF PATIENTS WITH VITAMIN-B-12-UNRESPONSIVE METHYLMALONIC ACIDEMIA

      The Journal of pediatrics
    53. CORMIERDAIRE V; BONNEFONT JP; RUSTIN P; MAURAGE C; OGIER H; SCHMITZ J; RICOUR C; SAUDUBRAY JM; MUNNICH A; ROTIG A
      MITOCHONDRIAL-DNA REARRANGEMENTS WITH ONSET AS CHRONIC DIARRHEA WITH VILLOUS ATROPHY

      The Journal of pediatrics
    54. MUNNICH A; ROTIG A; RUSTIN P; CHRETIEN D; BONNEFONT JP; NUTTIN C; CORMIER V; VASSAULT A; PARVY P; BARDET J; CHARPENTIER C; RABIER D; SAUDUBRAY JM
      CLINICAL PRESENTATIONS OF MITOCHONDRIAL D ISEASES

      Annales de biologie clinique
    55. RIZZO WB; CRAFT DA; KELSON L; BONNEFONT JP; SAUDUBRAY JM; SCHULMAN JD; BLACK SH; TABSH K; DIROCCO M
      PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME IN THE 1ST AND 2ND TRIMESTER USING ENZYMATIC METHODS

      American journal of human genetics


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Documento generato il 22/02/20 alle ore 11:55:37