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Results: 1-25 | 26-44
Results: 1-25/44
CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS - REPORT OF 2 UNRELATED CASES
Authors: VITAL A FONTAN D JULIEN J TALON P HERON B ROUTON MC PONSOT G VITAL C
Citation: A. Vital et al., CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS - REPORT OF 2 UNRELATED CASES, Journal of the peripheral nervous system, 3(2), 1998, pp. 125-132
MARKER CHROMOSOME - ANGELMAN - UNIPARENTAL DISOMY - FISH - CLINICAL-FEATURES OF PRADER-WILLI-SYNDROME IN A GIRL WITH METHYLATION STATUS OF ANGELMAN-SYNDROME
Authors: LEBBAR A DUPONT JM CUISSET L PINTON F VASSEUR C LETESSIER D DENAVIT MF PONSOT G DELPECH M RABINEAU D
Citation: A. Lebbar et al., MARKER CHROMOSOME - ANGELMAN - UNIPARENTAL DISOMY - FISH - CLINICAL-FEATURES OF PRADER-WILLI-SYNDROME IN A GIRL WITH METHYLATION STATUS OF ANGELMAN-SYNDROME, European journal of human genetics, 6, 1998, pp. 2114-2114
DOUBLECORTIN IS THE MAJOR GENE CAUSING X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA (SCLH)
Authors: DESPORTES V FRANCIS F PINARD JM DESGUERRE I MOUTARD ML SNOECK I MEINERS LC CAPRON F CUSMAI R RICCI S MOTTE J ECHENNE B PONSOT G DULAC O CHELLY J BELDJORD C
Citation: V. Desportes et al., DOUBLECORTIN IS THE MAJOR GENE CAUSING X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA (SCLH), Human molecular genetics (Print), 7(7), 1998, pp. 1063-1070
SEVERE INFANTILE ANOREXIA WITH PROGRESSIV E NEUROLOGICAL CHANGES (8 CASES) - HIGH PREVALENCE OF THIS HEREDITARY DISORDERS ON REUNION ISLAND
Authors: GRABER D ALESSANDRI JL COMBES JC PONSOT G
Citation: D. Graber et al., SEVERE INFANTILE ANOREXIA WITH PROGRESSIV E NEUROLOGICAL CHANGES (8 CASES) - HIGH PREVALENCE OF THIS HEREDITARY DISORDERS ON REUNION ISLAND, Archives de pediatrie, 5(1), 1998, pp. 90-92
DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: HARPEY JP HERON D PRUDENT M CHARPENTIER C RUSTIN P PONSOT G CORMIERDAIRE V
Citation: Jp. Harpey et al., DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 21(7), 1998, pp. 748-752
PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION
Authors: RABIER D DIRY C ROTIG A RUSTIN P HERON B BARDET J PARVY P PONSOT G MARSAC C SAUDUBRAY JM MUNNICH A KAMOUN P
Citation: D. Rabier et al., PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION, Journal of inherited metabolic disease, 21(3), 1998, pp. 216-219
CEREBRAL INFARCTION IN PEDIATRIC-PATIENTS - A REVIEW OF 60 CASES
Authors: TABARKI B HERON B PONSOT G
Citation: B. Tabarki et al., CEREBRAL INFARCTION IN PEDIATRIC-PATIENTS - A REVIEW OF 60 CASES, Annales de pediatrie, 45(2), 1998, pp. 65-71
A CASE OF MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A MUSCLE COENZYME Q(10) DEFICIENCY
Authors: BOITIER E DEGOUL F DESGUERRE I CHARPENTIER C FRANCOIS D PONSOT G DIRY M RUSTIN P MARSAC C
Citation: E. Boitier et al., A CASE OF MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A MUSCLE COENZYME Q(10) DEFICIENCY, Journal of the neurological sciences, 156(1), 1998, pp. 41-46
AUTISM AND VISUAL AGNOSIA IN A CHILD WITH RIGHT OCCIPITAL LOBECTOMY
Authors: JAMBAQUE I MOTTRON L PONSOT G CHIRON C
Citation: I. Jambaque et al., AUTISM AND VISUAL AGNOSIA IN A CHILD WITH RIGHT OCCIPITAL LOBECTOMY, Journal of Neurology, Neurosurgery and Psychiatry, 65(4), 1998, pp. 555-560
INHERITED MICRODELETION IN XP21.3-22.1 INVOLVED IN NONSPECIFIC MENTAL-RETARDATION
Authors: DESPORTES V CARRIE A BILLUART P KIEFFER V BIENVENU T VINET MC BELDJORD C KAHN A PONSOT G CHELLY J MOUTARD ML
Citation: V. Desportes et al., INHERITED MICRODELETION IN XP21.3-22.1 INVOLVED IN NONSPECIFIC MENTAL-RETARDATION, Clinical genetics, 53(2), 1998, pp. 136-141
BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY
Authors: MARSAC C BENELLI C DESGUERRE I DIRY M FOUQUE F DEMEIRLEIR L PONSOT G SENECA S POGGI F SAUDUBRAY JM ZABOT MT FONTAN D LISSENS W
Citation: C. Marsac et al., BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY, Human genetics, 99(6), 1997, pp. 785-792
THE POSSIBLE IMPLICATION OF RARE AUTOSOMAL FRAGILE SITES IN MENTAL-RETARDATION - STUDY OF 9 FAMILIES
Authors: TELVI L DUPUY O ION R FEINGOLD J PONSOT G
Citation: L. Telvi et al., THE POSSIBLE IMPLICATION OF RARE AUTOSOMAL FRAGILE SITES IN MENTAL-RETARDATION - STUDY OF 9 FAMILIES, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 285-285
QUID - DEVICS-NEUROMYELITIS-OPTICA
Authors: SAAD J ADAMSBAUM C TERDJMAN P PONSOT G
Citation: J. Saad et al., QUID - DEVICS-NEUROMYELITIS-OPTICA, Journal de radiologie, 78(6), 1997, pp. 465-467
GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX-47) IS LOCATED IN XQ22.3-Q24
Authors: DESPORTES V SOUFIR N CARRIE A BILLUART P BIENVENU T VINET MC BELDJORD C PONSOT G KAHN A BOUE J CHELLY J
Citation: V. Desportes et al., GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX-47) IS LOCATED IN XQ22.3-Q24, American journal of medical genetics, 72(3), 1997, pp. 324-328
A NEAR HOMOPLASMIC T8993G MTDNA MUTATION IN A PATIENT WITH ATYPIC LEIGH-SYNDROME NOT PRESENT IN THE MOTHERS TISSUES
Authors: DEGOUL F FRANCOIS D DIRY M PONSOT G DESGUERRE I HERON B MARSAC C MOUTARD ML
Citation: F. Degoul et al., A NEAR HOMOPLASMIC T8993G MTDNA MUTATION IN A PATIENT WITH ATYPIC LEIGH-SYNDROME NOT PRESENT IN THE MOTHERS TISSUES, Journal of inherited metabolic disease, 20(1), 1997, pp. 49-53
ACUTE POSTINFECTIOUS LEUKOENCEPHALITIS IN PEDIATRIC-PATIENTS - A REVIEW OF 5 CASES
Authors: RODRIGUEZ D DESGUERRE I ADAMSBAUM C MOUTARD ML PONSOT G
Citation: D. Rodriguez et al., ACUTE POSTINFECTIOUS LEUKOENCEPHALITIS IN PEDIATRIC-PATIENTS - A REVIEW OF 5 CASES, Annales de pediatrie, 44(1), 1997, pp. 15-19
DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/
Authors: DESPORTES V PINARD JM SMADJA D MOTTE J BOESPFLUGTANGUY O MOUTARD ML DESGUERRE I BILLUART P CARRIE A BIENVENU T VINET MC BACHNER L BELDJORD C DULAC O KAHN A PONSOT G CHELLY J
Citation: V. Desportes et al., DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/, Journal of Medical Genetics, 34(3), 1997, pp. 177-183
A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28
Authors: DESPORTES V BILLUART P CARRIE A BACHNER L BIENVENU T VINET MC BELDJORD C PONSOT G KAHN A BOUE J CHELLY J
Citation: V. Desportes et al., A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28, American journal of human genetics, 60(4), 1997, pp. 903-909
EPIDEMIOLOGY OF CRYPTOCOCCOSIS IN FRANCE - A 9-YEAR SURVEY (1985-1993)
Authors: DROMER F MATHOULIN S DUPONT B LAPORTE A CHARDON H GREZE H HAYETTE MP CHABASSE D MARTIN M PULIK M HAUTEFORT B LEPENNEC MP LARFOUILLOUX J FALLER JP BARALE T BOUGESMICHEL C DELZANIG G COUPRIE B BOUGNOUX ME MASURE O LEFORT C DUHAMEL C BIDAULT C ZAEGEL M ALLARD C LAURENS E DORMONT J BEYTOUT J MOLLO JL BOUSSOUGANT Y CORDIER F BRETAGNE S GAILLARD JP PORTIER H GRISE G LEBLANC A BOUCHARD I NAUCIEL C LEBEAU B BOUREE P LAGARDE A VINCENT J DESAILLYCHANSON MA ELOY O GRILLOT ML GOSSET X CAPBERN P DARDE ML LEMERCIER Y PIENS MA JANIN G TREMOLIERES F QUILICI M EME A PIQUET M REYNES J GETTLER V TREVOUX A KURES L MORIN O KERNBAUM S GARITOUSSAINT M DELAGE A BARTHEZ JP GIUDICELLI Y JACQUEMIN JL BOUVRY M PATEYRON F TOUBAS D GUIGEN C BRASSEUR C LAFAYE JMP SIRONDELLE G GAUTHRON M JANVIER M GODINEAU N DORCHE G FEGUEUX S ROUE R SIMONEAU M MALHERBE P KOENIG H CAHEN P MUZELLEC Y LINAS MD BAIXENCH MT DECLOSETS F VERGER J SALIBA F PATEY O DATRY A LAVARDE V DERECONDO J PONSOT G LAMER C HENNEQUIN C TRAORE F ARBORIO M DEMATONS C ROUX P CHOCHILLON C DELUOL AM POIROT JL DUPOUYCAMET J BLANC V BASSET D
Citation: F. Dromer et al., EPIDEMIOLOGY OF CRYPTOCOCCOSIS IN FRANCE - A 9-YEAR SURVEY (1985-1993), Clinical infectious diseases, 23(1), 1996, pp. 82-90
INDIVIDUAL AND ENVIRONMENTAL-FACTORS ASSOCIATED WITH INFECTION DUE TOCRYPTOCOCCUS-NEOFORMANS SEROTYPE-D
Authors: DROMER F MATHOULIN S DUPONT B LETENNEUR L RONIN O CHARDON H HAYETTE MP BOUCHARA P HAUTEFORT B LEPENNEC MP LARFOUILLOUX J FALLER M REBOUX G COUPRIE B BOUGNOUX ME MASURE O LEFORT C DUHAMEL C ZAEGEL M CAMBON M BOUSSOUGANT Y BRETAGNE S GESLIN M BERTHELOT M CAMERLYNCK P GRISE G GAUTHIER M BOUCHARD I NAUCIEL C LEBEAU B ROMAND S DESAILLYCHANSON MA ELOY O GRILLOT ML BOYER E GOSSET X BOUTEILLE B PIENS MA JANIN G TREMOLIERES F NGUYEN M EME A RASPAIL P KURES L MORIN O FELZ M LEFICHOUX Y DELAGE A BARTHEZ JP NOUAILHAT F LACROIX C BLANCHARD A TOUBAS D CHEVRIER S BRASSEUR C LAFAYE JMP GODINEAU N DORCHE G ROUE R WALLER J CAHEN P MUZELLEC Y LINAS MD BAIXENCH MT VINOCOUR M VERGER M RIOU R ROMAN S PATEY O DATRY A LAVARDE V DERECONDO J PONSOT G LAMER C HENNEQUIN C TRAORE F ARBORIO M DEMATONS C ROUX P CHOCHILLON C DELUOL AM BUOT G POIROT JL DUPOUYCAMET J BLANC V SEGONDS M
Citation: F. Dromer et al., INDIVIDUAL AND ENVIRONMENTAL-FACTORS ASSOCIATED WITH INFECTION DUE TOCRYPTOCOCCUS-NEOFORMANS SEROTYPE-D, Clinical infectious diseases, 23(1), 1996, pp. 91-96
RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL
Authors: FONTAINE B NICOLE S TOPALOGLU H BENHAMIDA C BEIGHTON P SPAANS F CANTU JMA BAKOURI S ROMERO N RICKER K BARROSNUNEZ P PONSOT G BENHAMIDA M WEISSENBACH J HENTATI F LEHMANNHORN F
Citation: B. Fontaine et al., RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL, Human genetics, 98(3), 1996, pp. 380-385
HYPOMELANOSIS OF ITO AND BRAIN ABNORMALITIES - MRI FINDINGS AND LITERATURE-REVIEW
Authors: STEINER J ADAMSBAUM C DESGUERRES I LALANDE G RAYNAUD F PONSOT G KALIFA G
Citation: J. Steiner et al., HYPOMELANOSIS OF ITO AND BRAIN ABNORMALITIES - MRI FINDINGS AND LITERATURE-REVIEW, Pediatric radiology, 26(11), 1996, pp. 763-768
CORPUS-CALLOSUM AGENESIS AND PARASAGITTAL INTERHEMISPHERIC CYST
Authors: DOFFE L ADAMSBAUM C ROLLAND Y ROBAIN O PONSOT G KALIFA G
Citation: L. Doffe et al., CORPUS-CALLOSUM AGENESIS AND PARASAGITTAL INTERHEMISPHERIC CYST, Journal de radiologie, 77(6), 1996, pp. 427-430
A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES
Authors: TELVI L ION A CAREL JC DESGUERRE I PIRAUD M BOUTIN AM FEINGOLD J PONSOT G FELLOUS M MCELREAVEY K
Citation: L. Telvi et al., A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES, Journal of Medical Genetics, 33(9), 1996, pp. 767-771
CENTRAL VISUAL IMPAIRMENT IN CHILDREN WITH EARLY-ONSET OF EPILEPSY
Authors: JAMBAQUE I CHIRON C PONSOT G DULAC O
Citation: I. Jambaque et al., CENTRAL VISUAL IMPAIRMENT IN CHILDREN WITH EARLY-ONSET OF EPILEPSY, International journal of psychology, 31(3-4), 1996, pp. 3642-3642
Risultati: 1-25 | 26-44