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Results: 1-13 |
Results: 13
IN-VITRO REACTIVATION OF THE FMR1 GENE INVOLVED IN FRAGILE-X-SYNDROME
Authors: CHIURAZZI P POMPONI MG WILLEMSEN R OOSTRA BA NERI G
Citation: P. Chiurazzi et al., IN-VITRO REACTIVATION OF THE FMR1 GENE INVOLVED IN FRAGILE-X-SYNDROME, Human molecular genetics, 7(1), 1998, pp. 109-113
CHARACTERIZATION OF MSH2 AND MLH1 MUTATIONS IN ITALIAN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER
Authors: VIEL A GENUARDI M CAPOZZI E LEONARDI F BELLACOSA A PARAVATOUPETSOTAS M POMPONI MG FORNASARIG M PERCESEPE A RONCUCCI L TAMASSIA MG BENATTI P DELEON MP VALENTI A COVINO M ANTI M FOLETTO M BOIOCCHI M NERI G
Citation: A. Viel et al., CHARACTERIZATION OF MSH2 AND MLH1 MUTATIONS IN ITALIAN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER, Genes, chromosomes & cancer, 18(1), 1997, pp. 8-18
THE INV DUP(15) SYNDROME - A CLINICALLY RECOGNIZABLE SYNDROME WITH ALTERED BEHAVIOR, MENTAL-RETARDATION, AND EPILEPSY
Authors: BATTAGLIA A GURRIERI F BERTINI E BELLACOSA A POMPONI MG PARAVATOUPETSOTAS M MAZZA S NERI G
Citation: A. Battaglia et al., THE INV DUP(15) SYNDROME - A CLINICALLY RECOGNIZABLE SYNDROME WITH ALTERED BEHAVIOR, MENTAL-RETARDATION, AND EPILEPSY, Neurology, 48(4), 1997, pp. 1081-1086
DNA MISMATCH REPAIR GENE-MUTATIONS IN HEREDITARY NON POLYPOSIS COLORECTAL-CANCER (HNPCC) AND PUTATIVE HNPCC (P-HNPCC) ITALIAN FAMILIES
Authors: ANTI M GENUARDI M DELEON MP VIEL A FORNASARIG M VALENTI A IASCONE E ARMUZZI A COCO C CAPOZZI E LEONARDI F BELLACOSA A PEDRONI M PARAVATOU M POMPONI MG PERCESEPE A RONCUCCI L TAMASSIA MG BENATTI P BOIOCCHI M NERI G
Citation: M. Anti et al., DNA MISMATCH REPAIR GENE-MUTATIONS IN HEREDITARY NON POLYPOSIS COLORECTAL-CANCER (HNPCC) AND PUTATIVE HNPCC (P-HNPCC) ITALIAN FAMILIES, Gut, 41, 1997, pp. 66-66
GERMLINE MUTATIONS OF MLH1 AND MSH2 IN NON-HNPCC (HEREDITARY NON POLYPOSIS COLORECTAL-CANCER) FAMILIES
Authors: ANTI M DELEON MP GENUARDI M VIEL A FORNASARIG M VALENTI A COVINO M IASCONE E ARMUZZI A CAPOZZI E LEONARDI F BELLACOSA A PEDRONI M PARAVATOUPETSOTAS M POMPONI MG PERCESEPE A RONCUCCI L TAMASSIA MG BENATTI P BAIOCCHI M GASBARRINI G NERI G
Citation: M. Anti et al., GERMLINE MUTATIONS OF MLH1 AND MSH2 IN NON-HNPCC (HEREDITARY NON POLYPOSIS COLORECTAL-CANCER) FAMILIES, Gastroenterology, 112(4), 1997, pp. 533-533
IN-VITRO REACTIVATION OF THE FRAGILE-X-SYNDROME GENE
Authors: CHIURAZZI P POMPONI MG WILLEMSEN R OOSTRA BA NERI G
Citation: P. Chiurazzi et al., IN-VITRO REACTIVATION OF THE FRAGILE-X-SYNDROME GENE, American journal of human genetics, 61(4), 1997, pp. 1786-1786
VALPROATE-INDUCED SYSTEMIC LUPUS-ERYTHEMATOSUS IN A PATIENT WITH PARTIAL TRISOMY OF CHROMOSOME-9 AND EPILEPSY
Authors: GIGLI GL SCALISE A PAURI F SILVESTRI G DIOMEDI M PLACIDI F POMPONI MG MASALA C
Citation: Gl. Gigli et al., VALPROATE-INDUCED SYSTEMIC LUPUS-ERYTHEMATOSUS IN A PATIENT WITH PARTIAL TRISOMY OF CHROMOSOME-9 AND EPILEPSY, Epilepsia, 37(6), 1996, pp. 587-588
FURTHER CONTRIBUTION TO THE DESCRIPTION OF PHENOTYPES ASSOCIATED WITHPARTIAL 4Q DUPLICATION
Authors: ZOLLINO M ZAMPINO G TORRIOLI G POMPONI MG NERI G
Citation: M. Zollino et al., FURTHER CONTRIBUTION TO THE DESCRIPTION OF PHENOTYPES ASSOCIATED WITHPARTIAL 4Q DUPLICATION, American journal of medical genetics, 57(1), 1995, pp. 69-73
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21
Authors: GURRIERI F CAMMARATA M AVARELLO RM GENUARDI M POMPONI MG NERI G GIUFFRE L
Citation: F. Gurrieri et al., ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21, American journal of medical genetics, 55(3), 1995, pp. 315-318
ESAC-15 SYNDROME - A CLINICALLY RECOGNIZABLE ANEUPLOIDY SYNDROME WITHMENTAL-RETARDATION, EPILEPSY, AND ALTERED BEHAVIOR
Authors: GURRIERI F BELLACOSA A POMPONI MG PARAVATOUPETSOTAS M BATTAGLIA A MAZZA S NERI G
Citation: F. Gurrieri et al., ESAC-15 SYNDROME - A CLINICALLY RECOGNIZABLE ANEUPLOIDY SYNDROME WITHMENTAL-RETARDATION, EPILEPSY, AND ALTERED BEHAVIOR, Epilepsia, 36, 1995, pp. 1-1
BUTYRATE AND ACETYL-CARNITINE INHIBIT THE CYTOGENETIC EXPRESSION OF THE FRAGILE-X IN-VITRO
Authors: POMPONI MG NERI G
Citation: Mg. Pomponi et G. Neri, BUTYRATE AND ACETYL-CARNITINE INHIBIT THE CYTOGENETIC EXPRESSION OF THE FRAGILE-X IN-VITRO, American journal of medical genetics, 51(4), 1994, pp. 447-450
SPLIT HAND SPLIT FOOT ANOMALY IN A FAMILY SEGREGATING A BALANCED TRANSLOCATION WITH BREAKPOINT ON 7Q22.1
Authors: GENUARDI M POMPONI MG SAMMITO V BELLUSSI A ZOLLINO M NERI G
Citation: M. Genuardi et al., SPLIT HAND SPLIT FOOT ANOMALY IN A FAMILY SEGREGATING A BALANCED TRANSLOCATION WITH BREAKPOINT ON 7Q22.1, American journal of medical genetics, 47(6), 1993, pp. 823-831
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3
Authors: KOZAK L CHIURAZZI P GENUARDI M POMPONI MG ZOLLINO M NERI G
Citation: L. Kozak et al., MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3, Journal of Medical Genetics, 30(10), 1993, pp. 866-869
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