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Results: 1-25 | 26-34
Results: 1-25/34
NOVEL MUTATION (G188R) IN THE G6PASE GENE OF A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1A
Authors: TRIOCHE P LABRUNE P ODIEVRE M HEDCHOUEL M DELEUZE JF
Citation: P. Trioche et al., NOVEL MUTATION (G188R) IN THE G6PASE GENE OF A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1A, Human mutation, 1998, pp. 323-324
PREVALENCE OF THE C282Y MUTATION IN THE HFE GENE IN 47 PATIENTS WITH HEREDITARY HEMOCHROMATOSIS
Authors: CHALAS J FRANCOUAL J CAPEL L GROOTENBOER S TRIOCHE P LINDENBAUM A LABRUNE P
Citation: J. Chalas et al., PREVALENCE OF THE C282Y MUTATION IN THE HFE GENE IN 47 PATIENTS WITH HEREDITARY HEMOCHROMATOSIS, European journal of human genetics, 6, 1998, pp. 5018-5018
APPLICATIONS OF MOLECULAR-BIOLOGY IN GLYCOGEN-STORAGE-DISEASE TYPE 1A, INCLUDING 2 PRENATAL-DIAGNOSIS
Authors: TRIOCHE P CHALAS J FRANCOUAL J CAPEL L BERNARD O ODIEVRE M HADCHOUEL M LABRUNE P
Citation: P. Trioche et al., APPLICATIONS OF MOLECULAR-BIOLOGY IN GLYCOGEN-STORAGE-DISEASE TYPE 1A, INCLUDING 2 PRENATAL-DIAGNOSIS, European journal of human genetics, 6, 1998, pp. 5019-5019
GILBERTS-DISEASE IN 1998
Authors: LABRUNE P TRIOCHE P
Citation: P. Labrune et P. Trioche, GILBERTS-DISEASE IN 1998, Archives de pediatrie, 5(7), 1998, pp. 719-721
SEVERE HYPERBILIRUBINEMIA IN THE NEWBORN - DEFINITION AND MANAGEMENT
Authors: LABRUNE P
Citation: P. Labrune, SEVERE HYPERBILIRUBINEMIA IN THE NEWBORN - DEFINITION AND MANAGEMENT, Archives de pediatrie, 5(10), 1998, pp. 1162-1167
PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IA BY RESTRICTIONENZYME DIGESTION
Authors: TRIOCHE P FRANCOUAL J AUDIBERT F CHALAS J LINDENBAUM A ODIEVRE M LABRUNE P
Citation: P. Trioche et al., PRENATAL-DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IA BY RESTRICTIONENZYME DIGESTION, Prenatal diagnosis, 18(6), 1998, pp. 629-631
CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW
Authors: TELLIER AL CORMIERDAIRE V ABADIE V AMIEL J SIGAUDY S BONNET D DELONLAYDEBENEY P MORRISSEAUDURAND MP HUBERT P MICHEL JL JAN D DOLLFUS H BAUMANN C LABRUNE P LACOMBE D PHILIP N LEMERRER M BRIARD ML MUNNICH A LYONNET S
Citation: Al. Tellier et al., CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW, American journal of medical genetics, 76(5), 1998, pp. 402-409
PROLONGED NEONATAL JAUNDICE DUE TO UNCONJ UGATED BILIRUBIN
Authors: LABRUNE P TRIOCHE P
Citation: P. Labrune et P. Trioche, PROLONGED NEONATAL JAUNDICE DUE TO UNCONJ UGATED BILIRUBIN, Annales de pediatrie, 45(6), 1998, pp. 440-444
HEPATOCELLULAR ADENOMAS IN GLYCOGEN-STORAGE-DISEASE TYPE-I AND TYPE-III - A SERIES OF 43 PATIENTS AND REVIEW OF THE LITERATURE
Authors: LABRUNE P TRIOCHE P DUVALTIER I CHEVALIER P ODIEVRE M
Citation: P. Labrune et al., HEPATOCELLULAR ADENOMAS IN GLYCOGEN-STORAGE-DISEASE TYPE-I AND TYPE-III - A SERIES OF 43 PATIENTS AND REVIEW OF THE LITERATURE, Journal of pediatric gastroenterology and nutrition, 24(3), 1997, pp. 276-279
ANTLEY-BIXLER-SYNDROME - DESCRIPTION OF 2 NEW CASES AND A REVIEW OF THE LITERATURE
Authors: BOTTERO L CINALLI G LABRUNE P LAJEUNIE E RENIER D
Citation: L. Bottero et al., ANTLEY-BIXLER-SYNDROME - DESCRIPTION OF 2 NEW CASES AND A REVIEW OF THE LITERATURE, Child's nervous system, 13(5), 1997, pp. 275-280
MOYAMOYA DISEASE IN A CHILD WITH GLYCOGEN-STORAGE-DISEASE TYPE IA
Authors: GOUTIERES F BOURGEOIS M TRIOCHE P DEMELIER JF ODIEVRE M LABRUNE P
Citation: F. Goutieres et al., MOYAMOYA DISEASE IN A CHILD WITH GLYCOGEN-STORAGE-DISEASE TYPE IA, Neuropediatrics, 28(2), 1997, pp. 133-134
SEVERE BRAIN AND LIMB DEFECTS WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE - A SERIES OF 6 CASES AND REVIEW OF THE LITERATURE
Authors: LABRUNE P TRIOCHE P FALLETBIANCO C ROUME J NARCY F LEMERRER M
Citation: P. Labrune et al., SEVERE BRAIN AND LIMB DEFECTS WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE - A SERIES OF 6 CASES AND REVIEW OF THE LITERATURE, American journal of medical genetics, 73(2), 1997, pp. 144-149
ONDANSETRON FOR PRURITUS IN CHILD WITH CHRONIC CHOLESTASIS
Authors: TRIOCHE P SAMUEL D ODIEVRE M LABRUNE P
Citation: P. Trioche et al., ONDANSETRON FOR PRURITUS IN CHILD WITH CHRONIC CHOLESTASIS, European journal of pediatrics, 155(11), 1996, pp. 990-990
CURRENT THERAPY FOR CRIGLER-NAJJAR SYNDROME TYPE-1 - REPORT OF A WORLD REGISTRY
Authors: VANDERVEERE CN SINAASAPPEL M MCDONAGH AF ROSENTHAL P LABRUNE P ODIEVRE M FEVERY J OTTE JB MCCLEAN P BURK G MASAKOWSKI V SPERL W MOWAT AP VERGANI CM HELLER K WILSON JP SHEPHERD R JANSEN PLM
Citation: Cn. Vanderveere et al., CURRENT THERAPY FOR CRIGLER-NAJJAR SYNDROME TYPE-1 - REPORT OF A WORLD REGISTRY, Hepatology, 24(2), 1996, pp. 311-315
SEPARATION BETWEEN HIV-POSITIVE WOMEN AND THEIR CHILDREN - THE FRENCHPROSPECTIVE-STUDY, 1986 THROUGH 1993
Authors: BLANCHE S MAYAUX MJ VEBER F LANDREAU A VILMER E CIRARUVIGNERON N FLOCH C TRICOIRE J NOSEDA G RETBI JM ROUZIOUX C PAUTARD B BRAULT D MAMOU A DANDINE M HERNANDORENA X BALDE M LACHASSINE E DOUARD D FLEURY H COLINGORSKI AM BROUARD J VIAL M LABRUNE P MAY A LEJALLE D PIERREY B RENDU CH BOSCO O LANZA M BODDAERT M DENAVIT MF LAHSINAT K PASCAL C LEBLANC A DALLOT MC VEDRENNE J SEAUME H BOTTO C WIPFF P MICHEL G VALLEE D DEBOISSE P TAMALET C CRUMIERE C SAILLANT D SEGUY X LELORIER B TALON C NICOLAS J HURET C LALANDE D BERTEROTTIERE D DEVILLE A MONPOUX F COTTALORDA J MAZI F DECREPY A TARDIEU M BENICHOU JJ GANTZER A PARAT S CARLUS C BRUNNER C HELLERROUSSIN B BURGARD M TERRIS J GIRAULT D DEBRE M HUREAUX JM FIRTION G LEBRUN F LEVINE M WALLET A BROSSARD Y MATHIEU FP MEYOHAS MC FRANCOUAL C HERVE F DOLFUS C COURPOTIN C DIMARIA H ROUSSET E MOUCHNINO G BROSSARD V ALLEMON MC ARMENGAUD D NARCY P ROBIN M LABBEFILOU F BOULLEY AM PUEL J BORDERON JC VINAS A BUSUTTIL R COUTRY AL GUILLOT F LAURENT C MOUDOUB Y DOUSSIN A
Citation: S. Blanche et al., SEPARATION BETWEEN HIV-POSITIVE WOMEN AND THEIR CHILDREN - THE FRENCHPROSPECTIVE-STUDY, 1986 THROUGH 1993, American journal of public health, 86(3), 1996, pp. 376-381
SPINAL SEGMENTAL MYOCLONUS IN CHILDHOOD - 2 CASE-REPORTS
Authors: RENAULT F FLORESGUEVARA R LANOTTE W DALLEST AM LABRUNE P
Citation: F. Renault et al., SPINAL SEGMENTAL MYOCLONUS IN CHILDHOOD - 2 CASE-REPORTS, Annales de pediatrie, 43(4), 1996, pp. 293-297
EXTENSIVE BRAIN CALCIFICATIONS LEUKODYSTROPHY, AND FORMATION OF PARENCHYMAL CYSTS - A NEW PROGRESSIVE DISORDER DUE TO DIFFUSE CEREBRAL MICROANGIOPATHY
Authors: LABRUNE P LACROIX C GOUTIERES F DELAVEAUCOUPET J CHEVALIER P ZERAH M HUSSON B LANDRIEU P
Citation: P. Labrune et al., EXTENSIVE BRAIN CALCIFICATIONS LEUKODYSTROPHY, AND FORMATION OF PARENCHYMAL CYSTS - A NEW PROGRESSIVE DISORDER DUE TO DIFFUSE CEREBRAL MICROANGIOPATHY, Neurology, 46(5), 1996, pp. 1297-1301
INCREASED PATERNAL AGE IN CHARGE ASSOCIATION
Authors: TELLIER AL LYONNET S CORMIERDAIRE V DELONLAY P ABADIE V BAUMANN C BONNEAU D LABRUNE P LACOMBE D LEMERRER M NIVELON A PHILIP N BRIARD ML MUNNICH A
Citation: Al. Tellier et al., INCREASED PATERNAL AGE IN CHARGE ASSOCIATION, Clinical genetics, 50(6), 1996, pp. 548-550
DIAGNOSTIC-VALUE OF THE EVALUATION OF THE GLYCOGEN-CONTENT IN MUSCLE DISEASES BY CARBON-13 NUCLEAR-MAGNETIC-RESONANCE
Authors: JEHENSON P DUBOC D LABRUNE P FARDEAU M ODIEVRE M SYROTA A
Citation: P. Jehenson et al., DIAGNOSTIC-VALUE OF THE EVALUATION OF THE GLYCOGEN-CONTENT IN MUSCLE DISEASES BY CARBON-13 NUCLEAR-MAGNETIC-RESONANCE, Journal de chimie physique et de physico-chimie biologique, 92(10), 1995, pp. 1797-1800
MATERNAL FACTORS ASSOCIATED WITH PERINATAL HIV-1 TRANSMISSION - THE FRENCH COHORT STUDY - 7 YEARS OF FOLLOW-UP OBSERVATION
Authors: MAYAUX MJ BLANCHE S ROUZIOUX C LECHENADEC J CHAMBRIN V FIRTION G ALLEMON MC VILMER E VIGNERON NC TRICOIRE J GUILLOT F COURPOTIN C TARDIEU M NOSEDA G HURAUX JM LEVINE M DECREPY A SIMON F KRIVINE A FRANCOUAL C DIMARIA L BURGARD M GIRAULT D STEPHAN JL TERRIS J VEBER F MATHIEU FP HERVE F ALLISY C DANDINE M LABRUNE P VIAL M LACHASSINE E FLOCH C MAZY F MEYER F ROBIN M TALON P BERTEROTTIERE D ROUSSET MC WIPFF P VINAS A NARCY P ARMENGAUD D LEBLANC A MAY A DOUARD D FLEURY P BROUARD J FREYMUTH F VALLE D MICHEL G TAMALET C NICOLAS J DEVILLE A MONPOUX F COTTALORDA J ROBERT A PUEL J
Citation: Mj. Mayaux et al., MATERNAL FACTORS ASSOCIATED WITH PERINATAL HIV-1 TRANSMISSION - THE FRENCH COHORT STUDY - 7 YEARS OF FOLLOW-UP OBSERVATION, Journal of acquired immune deficiency syndromes and human retrovirology, 8(2), 1995, pp. 188-194
FAILURE OF CEFOTAXIME TREATMENT IN 2 CHILDREN WITH MENINGITIS CAUSED BY HIGHLY PENICILLIN-RESISTANT STREPTOCOCCUS-PNEUMONIAE
Authors: GUIBERT M CHAHIME H PETIT J ODIEVRE M LABRUNE P
Citation: M. Guibert et al., FAILURE OF CEFOTAXIME TREATMENT IN 2 CHILDREN WITH MENINGITIS CAUSED BY HIGHLY PENICILLIN-RESISTANT STREPTOCOCCUS-PNEUMONIAE, Acta paediatrica, 84(7), 1995, pp. 831-833
ESTIMATED TIMING OF MOTHER-TO-CHILD HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 (HIV-1) TRANSMISSION BY USE OF A MARKOV MODEL
Authors: ROUZIOUX C COSTAGLIOLA D BURGARD M BLANCHE S MAYAUX MJ GRISCELLI C VALLERON AJ ALLEMON MC ARMENGAUD D BABINET JM BALDE P BENFADEL F BENSADOUN R BERTEROTIERE D BODDAERT M BOMPARD Y BOTTO C BRUNNER AM CACAULT JA CARLUSMONCOMBLE C CIRARUVIGNERON N COHEN C COLINGORKI AM COURPOTIN C CRUMIERE C DALLOT MC DANDINE M DECREPY A DEBONS M DEBRE M DENAVIT MF DEVIDAS A DUMONTEL M FIRTION G FLOCH C FRANCOUAL C FURIOLI J GANTZER A GRANIER F GUILLOT F HELLER B HURAUXRENDU C LABRUNE P LACHASSINE E LACROIX A LANZA M LAJALLE H LELORIER B LEBLANC A LEBRUN F LEJEUNE C MAMOU J MAY A MAZI F MEYER A MOUCHNINO G NARCY P NOSEDA G PASCAL C PAUTARD B ROBIN M RONZIER M ROPERT JL ROUSSET MC SAILLANT A SCART G SEAUME H SEGUY D TALON P TARDIEU M TERRIS J VALDES L VEBER F VEDRENNE J VIAL M VINAS A VINCENT N WIPFF P
Citation: C. Rouzioux et al., ESTIMATED TIMING OF MOTHER-TO-CHILD HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 (HIV-1) TRANSMISSION BY USE OF A MARKOV MODEL, American journal of epidemiology, 142(12), 1995, pp. 1330-1337
THE GENE FOR THE FAMILIAL FORM OF INCONTINENTIA PIGMENTI (IP2) MAPS TO THE DISTAL PART OF XQ28
Authors: SMAHI A HYDENGRANSKOG C PETERLIN B VABRES P HEUERTZ S FULCHIGNONILATAUD MC DAHL N LABRUNE P LEMAREC B PIUSSAN C TAIEB A VONKOSKULL H HORSCAYLA MC
Citation: A. Smahi et al., THE GENE FOR THE FAMILIAL FORM OF INCONTINENTIA PIGMENTI (IP2) MAPS TO THE DISTAL PART OF XQ28, Human molecular genetics, 3(2), 1994, pp. 273-278
SWEET SYNDROME AS THE PRESENTING MANIFESTATION OF CHRONIC GRANULOMATOUS-DISEASE IN AN INFANT
Authors: SEDEL D HUGUET P LEBBE C DONADIEU J ODIEVRE M LABRUNE P
Citation: D. Sedel et al., SWEET SYNDROME AS THE PRESENTING MANIFESTATION OF CHRONIC GRANULOMATOUS-DISEASE IN AN INFANT, Pediatric dermatology, 11(3), 1994, pp. 237-240
GENETIC-HETEROGENEITY OF CRIGLER-NAJJAR-SYNDROME TYPE-I - A STUDY OF 14 CASES
Authors: LABRUNE P MYARA A HADCHOUEL M RONCHI F BERNARD O TRIVIN F CHOWDHURY NR CHOWDHURY JR MUNNICH A ODIEVRE M
Citation: P. Labrune et al., GENETIC-HETEROGENEITY OF CRIGLER-NAJJAR-SYNDROME TYPE-I - A STUDY OF 14 CASES, Human genetics, 94(6), 1994, pp. 693-697
Risultati: 1-25 | 26-34