ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-30

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PRENATAL-DIAGNOSIS OF A CHROMOSOME 1P36 DELETION

Authors: FAIVRE L MORICHON N VIOT G MARTINOVIC J PINSON MP RACLIN V EDERY P DUMEZ Y MUNNICH A VEKEMANS M

Citation: L. Faivre et al., PRENATAL-DIAGNOSIS OF A CHROMOSOME 1P36 DELETION, European journal of human genetics, 6, 1998, pp. 2123-2123

PRENATAL-DIAGNOSIS OF AN 8P23.1 DELETION IN A FETUS WITH A DIAPHRAGMATIC-HERNIA AND REVIEW OF THE LITERATURE

Authors: FAIVRE L MORICHONDELVALLEZ N VIOT G NARCY F LOISON S MANDELBROT L AUBRY MC RACLIN V EDERY P MUNNICH A VEKEMANS M

Citation: L. Faivre et al., PRENATAL-DIAGNOSIS OF AN 8P23.1 DELETION IN A FETUS WITH A DIAPHRAGMATIC-HERNIA AND REVIEW OF THE LITERATURE, Prenatal diagnosis, 18(10), 1998, pp. 1055-1060

VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNGS-DISEASE

Authors: PELET A GENESTE O EDERY P PASINI A CHAPPUIS S ATTIE T MUNNICH A LENOIR G LYONNET S BILLAUD M

Citation: A. Pelet et al., VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNGS-DISEASE, The Journal of clinical investigation, 101(6), 1998, pp. 1415-1423

MUTATIONS OF THE EDN3 GENE IN ISOLATED AND SYNDROMIC HIRSCHSPRUNGS-DISEASE

Authors: BIDAUD C SALOMON R EDERY P VANCAMP G PELET A BONDUELLE M NIHOULFEKETE C WILLEMS PJ MUNNICH A LYONNET S

Citation: C. Bidaud et al., MUTATIONS OF THE EDN3 GENE IN ISOLATED AND SYNDROMIC HIRSCHSPRUNGS-DISEASE, Gastroenterologie clinique et biologique, 21(8-9), 1997, pp. 548-554

RET IN HUMAN-DEVELOPMENT AND ONCOGENESIS

Authors: EDERY P ENG C MUNNICH A LYONNET S

Citation: P. Edery et al., RET IN HUMAN-DEVELOPMENT AND ONCOGENESIS, BioEssays, 19(5), 1997, pp. 389-395

MOLECULAR-BASIS OF HIRSCHSPRUNGS-DISEASE

Authors: AMIEL J ATTIE T SALOMON R EDERY P PELET A NIHOULFEKETE C MUNNICH A LYONNET S

Citation: J. Amiel et al., MOLECULAR-BASIS OF HIRSCHSPRUNGS-DISEASE, Gut, 41, 1997, pp. 11-12

TETRASOMY 9P - PARENTAL ORIGIN AND MECHANISM OF THE ISOCHROMOSOME 9P IN TETRASOMY 9P

Authors: EDERY P PEDRONNO S TOUTAIN A SANNIER N LYONNET S MUNNICH A VEKEMANS M DEBLOIS MC

Citation: P. Edery et al., TETRASOMY 9P - PARENTAL ORIGIN AND MECHANISM OF THE ISOCHROMOSOME 9P IN TETRASOMY 9P, American journal of human genetics, 61(4), 1997, pp. 699-699

VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNG-DISEASE

Authors: PELET A GENESTE O EDERY P CHAPPUIS S PASINI A ATTIE T MUNNICH A LENOIR G LYONNET S BILLAUD M

Citation: A. Pelet et al., VARIOUS MECHANISMS CAUSE RET-MEDIATED SIGNALING DEFECTS IN HIRSCHSPRUNG-DISEASE, American journal of human genetics, 61(4), 1997, pp. 2006-2006

COQ10-RESPONSIVE MITOCHONDRIAL ENCEPHALOMYOPATHY DUE TO AN INBORN ERROR OF UBIQUINONE SYNTHESIS METABOLISM

Authors: ROTIG A APPELKVIST EL GEROMEL V CHRETIEN D PARFAIT B KADHOM N EDERY P LEBIDEAU M ERNSTER L MUNNICH A RUSTIN P

Citation: A. Rotig et al., COQ10-RESPONSIVE MITOCHONDRIAL ENCEPHALOMYOPATHY DUE TO AN INBORN ERROR OF UBIQUINONE SYNTHESIS METABOLISM, American journal of human genetics, 61(4), 1997, pp. 2098-2098

MUTATION OF THE ENDOTHELIN-3 GENE IN THE WAARDENBURG-HIRSCHSPRUNG DISEASE (SHAH-WAARDENBURG SYNDROME)

Authors: EDERY P ATTIE T AMIEL J PELET A ENG C HOFSTRA RMW MARTELLI H BIDAUD C MUNNICH A LYONNET S

Citation: P. Edery et al., MUTATION OF THE ENDOTHELIN-3 GENE IN THE WAARDENBURG-HIRSCHSPRUNG DISEASE (SHAH-WAARDENBURG SYNDROME), Nature genetics, 12(4), 1996, pp. 442-444

HETEROZYGOUS ENDOTHELIN RECEPTOR-B (EDNRB) MUTATIONS IN ISOLATED HIRSCHSPRUNG DISEASE

Authors: AMIEL J ATTIE T JAN D PELET A EDERY P BIDAUD C LACOMBE D TAM P SIMEONI J FLORI E NIHOULFEKETE C MUNNICH A LYONNET S

Citation: J. Amiel et al., HETEROZYGOUS ENDOTHELIN RECEPTOR-B (EDNRB) MUTATIONS IN ISOLATED HIRSCHSPRUNG DISEASE, Human molecular genetics, 5(3), 1996, pp. 355-357

WAARDENBURG-HIRSCHSPRUNG DISEASE IN 2 SISTERS - A POSSIBLE CLUE TO THE GENETICS OF THIS ASSOCIATION

Authors: BONNET JP TILL M EDERY P ATTIE T LYONNET S

Citation: Jp. Bonnet et al., WAARDENBURG-HIRSCHSPRUNG DISEASE IN 2 SISTERS - A POSSIBLE CLUE TO THE GENETICS OF THIS ASSOCIATION, European journal of pediatric surgery, 6(4), 1996, pp. 245-248

GENETICS OF HIRSCHSPRUNGS-DISEASE

Authors: ATTIE T AMIEL J JAN D EDERY P PELET A SALOMON R MUNNICH A LYONNET S NIHOULFEKETE C

Citation: T. Attie et al., GENETICS OF HIRSCHSPRUNGS-DISEASE, Annales de chirurgie, 50(7), 1996, pp. 538-541

DIVERSITY OF RET PROTOONCOGENE MUTATIONS IN FAMILIAL AND SPORADIC HIRSCHSPRUNG DISEASE

Authors: ATTIE T PELET A EDERY P ENG C MULLIGAN LM AMIEL J BOUTRAND L BELDJORD C NIHOULFEKETE C MUNNICH A PONDER BAJ LYONNET S

Citation: T. Attie et al., DIVERSITY OF RET PROTOONCOGENE MUTATIONS IN FAMILIAL AND SPORADIC HIRSCHSPRUNG DISEASE, Human molecular genetics, 4(8), 1995, pp. 1381-1386

MUTATION OF THE ENDOTHELIN-RECEPTOR-B GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

Authors: ATTIE T TILL M PELET A AMIEL J EDERY P BOUTRAND L MUNNICH A LYONNET S

Citation: T. Attie et al., MUTATION OF THE ENDOTHELIN-RECEPTOR-B GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, Human molecular genetics, 4(12), 1995, pp. 2407-2409

ENDOTHELINS AND ENDOTHELIN RECEPTORS, NEW ACTORS IN DEVELOPMENT

Authors: ATTIE T AMIEL J EDERY P LYONNET S

Citation: T. Attie et al., ENDOTHELINS AND ENDOTHELIN RECEPTORS, NEW ACTORS IN DEVELOPMENT, MS. Medecine sciences, 11(8), 1995, pp. 1172-1175

EXCLUSION OF RET AND PAX-3 LOCI IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

Authors: ATTIE T TILL M PELET A EDERY P BONNET JP MUNNICH A LYONNET S

Citation: T. Attie et al., EXCLUSION OF RET AND PAX-3 LOCI IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, Journal of Medical Genetics, 32(4), 1995, pp. 312-313

MUTATIONS OF THE RET PROTOONCOGENE IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 SYNDROMES AND HIRSCHSPRUNG DISEASE

Authors: ENG C MULLIGAN LM LYONNET S EDERY P SMITH DP KWOK JBJ GARDNER E HEALEY CS PONDER MA MUNNICH A PONDER BAJ

Citation: C. Eng et al., MUTATIONS OF THE RET PROTOONCOGENE IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 SYNDROMES AND HIRSCHSPRUNG DISEASE, Journal of Medical Genetics, 32(2), 1995, pp. 135-135

ENDOTHELIN RECEPTOR-B GENE MUTATION IN A CONSANGUINEOUS FAMILY WITH WAARDENBURG-HIRSCHSPRUNGS DISEASE

Authors: ATTIE T TILL M AMIEL J EDERY P PELET A MUNNICH A LYONNET S

Citation: T. Attie et al., ENDOTHELIN RECEPTOR-B GENE MUTATION IN A CONSANGUINEOUS FAMILY WITH WAARDENBURG-HIRSCHSPRUNGS DISEASE, American journal of human genetics, 57(4), 1995, pp. 21-21

MUTATION OF THE RET PROTOONCOGENE IN A PATIENT WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINES CURSE) AND HIRSCHSPRUNG DISEASE

Authors: AMIEL J ATTIE T SIMEONI J EDERY P GAULTIER C MUNNICH A LYONNET S

Citation: J. Amiel et al., MUTATION OF THE RET PROTOONCOGENE IN A PATIENT WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINES CURSE) AND HIRSCHSPRUNG DISEASE, American journal of human genetics, 57(4), 1995, pp. 1189-1189

A 7 BP DELETION OF THE RET PROTOONCOGENE IN FAMILIAL HIRSCHSPRUNGS-DISEASE

Authors: ATTIE T PELET A SARDA P ENG C EDERY P MULLIGAN LM PONDER BAJ MUNNICH A LYONNET S

Citation: T. Attie et al., A 7 BP DELETION OF THE RET PROTOONCOGENE IN FAMILIAL HIRSCHSPRUNGS-DISEASE, Human molecular genetics, 3(8), 1994, pp. 1439-1440

MUTATIONS IN RET PROTOONCOGENE IN HIRSCHS PRUNG DISEASE - A MULTIFUNCTION GENE

Authors: LYONNET S EDERY P ATTIE T NIHOULFEKETE C MUNNICH A

Citation: S. Lyonnet et al., MUTATIONS IN RET PROTOONCOGENE IN HIRSCHS PRUNG DISEASE - A MULTIFUNCTION GENE, MS. Medecine sciences, 10(4), 1994, pp. 450-453

MUTATIONS OF THE RET PROTOONCOGENE IN HIR SCHSPRUNGS-DISEASE

Authors: LYONNET S EDERY P MULLIGAN LM PELET A DOW E ABEL L HOLDER S NIHOULFEKETE C PONDER BAJ MUNNICH A

Citation: S. Lyonnet et al., MUTATIONS OF THE RET PROTOONCOGENE IN HIR SCHSPRUNGS-DISEASE, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(4), 1994, pp. 358-362

A NOVEL POLYMORPHISM IN THE CODING SEQUENCE OF THE HUMAN RET PROTOONCOGENE

Authors: EDERY P ATTIE T MULLIGAN LM PELET A ENG C PONDER BAJ MUNNICH A LYONNET S

Citation: P. Edery et al., A NOVEL POLYMORPHISM IN THE CODING SEQUENCE OF THE HUMAN RET PROTOONCOGENE, Human genetics, 94(5), 1994, pp. 579-580

LIVER CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF NEONATAL-ONSET HEPATIC-FAILURE

Authors: EDERY P GERARD B CHRETIEN D ROTIG A CERRONE R RABIER D RAMBAUD C FABRE M SAUDUBRAY JM MUNNICH A RUSTIN P

Citation: P. Edery et al., LIVER CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF NEONATAL-ONSET HEPATIC-FAILURE, European journal of pediatrics, 153(3), 1994, pp. 190-194

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