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Results: 1-14 |
Results: 14
THE GENE ENCODING A CATIONIC AMINO-ACID TRANSPORTER (SLC7A4) MAPS TO THE REGION DELETED IN THE VELOCARDIOFACIAL SYNDROME
Authors: SPERANDEO MP BORSANI G INCERTI B ZOLLO M ROSSI E ZUFFARDI O CASTALDO P TAGLIALATELA M ANDRIA G SEBASTIO G
Citation: Mp. Sperandeo et al., THE GENE ENCODING A CATIONIC AMINO-ACID TRANSPORTER (SLC7A4) MAPS TO THE REGION DELETED IN THE VELOCARDIOFACIAL SYNDROME, Genomics, 49(2), 1998, pp. 230-236
CLINICAL ASPECTS OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - HOW WIDEIS THE SPECTRUM
Authors: DEFRANCHIS R SPERANDEO MP SEBASTIO G ANDRIA G
Citation: R. Defranchis et al., CLINICAL ASPECTS OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - HOW WIDEIS THE SPECTRUM, European journal of pediatrics, 157, 1998, pp. 67-70
INCREASED THROMBOTIC RISK FOR PATIENTS WITH ASSOCIATED 844INS68 MUTATION OF THE CBS GENE AND THE 677C-]T MUTATION OF THE MTHFR GENE
Authors: DEFRANCHIS R BUONINCONTI A FERMO I SEBASTIO G SPERANDEO MP MAZZOLA G CERBONE AM SORIENTE L OREFICE G DIMINNO G DANGELO A ANDRIA G
Citation: R. Defranchis et al., INCREASED THROMBOTIC RISK FOR PATIENTS WITH ASSOCIATED 844INS68 MUTATION OF THE CBS GENE AND THE 677C-]T MUTATION OF THE MTHFR GENE, Thrombosis research, 91(3), 1998, pp. 1-1
THE C677T MUTATION OF THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A MODERATE RISK FACTOR FOR SPINA-BIFIDA IN ITALY
Authors: DEFRANCHIS R BUONINCONTI A MANDATO C PEPE A SPERANDEO MP DELGADO R CAPRA V SALVAGGIO E ANDRIA G MASTROIACOVO P
Citation: R. Defranchis et al., THE C677T MUTATION OF THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A MODERATE RISK FACTOR FOR SPINA-BIFIDA IN ITALY, Journal of Medical Genetics, 35(12), 1998, pp. 1009-1013
MILD PHENOTYPE ASSOCIATED WITH AN INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-1
Authors: MELIS D PERONE L SPERANDEO MP SABBATINO MS TUZZI MR ROMANO A PARENTI G ANDRIA G
Citation: D. Melis et al., MILD PHENOTYPE ASSOCIATED WITH AN INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-1, Journal of Medical Genetics, 35(12), 1998, pp. 1047-1049
COMBINED IMMUNODEFICIENCY PHENOTYPE ASSOCIATED WITH INAPPROPRIATE SPONTANEOUS AND ACTIVATION-INDUCED APOPTOSIS
Authors: PIGNATA C FIORE M SCOTESE I COSENTINI E SPERANDEO MP TURCO C PETRELLA A NOTARANGELO L VENUTA S
Citation: C. Pignata et al., COMBINED IMMUNODEFICIENCY PHENOTYPE ASSOCIATED WITH INAPPROPRIATE SPONTANEOUS AND ACTIVATION-INDUCED APOPTOSIS, Clinical and experimental immunology, 108(3), 1997, pp. 484-489
RISK-FACTORS FOR NEURAL-TUBE DEFECTS - ANALYSIS OF COMMON GENETIC-VARIANTS OF METHYLENETETRAHYDROFOLATE REDUCTASE AND CYSTATHIONINE BETA-SYNTHASE
Authors: DEFRANCHIS R MANDATO C BUONINCONTI A SPERANDEO MP CAPRA V DEMARCO P RICCI R MASTROIACOVO P SELVAGGIO E SEBASTIO G ANDRIA G
Citation: R. Defranchis et al., RISK-FACTORS FOR NEURAL-TUBE DEFECTS - ANALYSIS OF COMMON GENETIC-VARIANTS OF METHYLENETETRAHYDROFOLATE REDUCTASE AND CYSTATHIONINE BETA-SYNTHASE, American journal of human genetics, 61(4), 1997, pp. 861-861
FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY
Authors: CHIURAZZI P GENUARDI M KOZAK L GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONI L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G
Citation: P. Chiurazzi et al., FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY, American journal of medical genetics, 64(1), 1996, pp. 209-215
HOMOCYSTEINE RESPONSE TO METHIONINE CHALLENGE IN 4 OBLIGATE HETEROZYGOTES FOR HOMOCYSTINURIA AND RELATIONSHIP WITH CYSTATHIONINE BETA-SYNTHASE MUTATIONS
Authors: SPERANDEO MP CANDITO M SEBASTIO G ROLLAND MO TURCCAREL C GIUDICELLI H DELLAMONICA P ANDRIA G
Citation: Mp. Sperandeo et al., HOMOCYSTEINE RESPONSE TO METHIONINE CHALLENGE IN 4 OBLIGATE HETEROZYGOTES FOR HOMOCYSTINURIA AND RELATIONSHIP WITH CYSTATHIONINE BETA-SYNTHASE MUTATIONS, Journal of inherited metabolic disease, 19(3), 1996, pp. 351-356
A 68-BP INSERTION FOUND IN A HOMOCYSTINURIC PATIENT IS A COMMON VARIANT AND IS SKIPPED BY ALTERNATIVE SPLICING OF THE CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA
Authors: SPERANDEO MP DEFRANCHIS R ANDRIA G SEBASTIO G
Citation: Mp. Sperandeo et al., A 68-BP INSERTION FOUND IN A HOMOCYSTINURIC PATIENT IS A COMMON VARIANT AND IS SKIPPED BY ALTERNATIVE SPLICING OF THE CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA, American journal of human genetics, 59(6), 1996, pp. 1391-1393
VARIABLE PENETRANCE OF HYPOGONADISM IN A SIBSHIP WITH KALLMANN SYNDROME DUE TO A DELETION OF THE KAL GENE
Authors: PARENTI G RIZZOLO MG GHEZZI M DIMAIO S SPERANDEO MP INCERTI B FRANCO B BALLABIO A ANDRIA G
Citation: G. Parenti et al., VARIABLE PENETRANCE OF HYPOGONADISM IN A SIBSHIP WITH KALLMANN SYNDROME DUE TO A DELETION OF THE KAL GENE, American journal of medical genetics, 57(3), 1995, pp. 476-478
MOLECULAR ANALYSIS OF PATIENTS AFFECTED BY HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - REPORT OF A NEW MUTATION IN EXON-8 AND A DELETION IN INTRON-11
Authors: SPERANDEO MP PANICO M PEPE A CANDITO M DEFRANCHIS R KRAUS JP ANDRIA G SEBASTIO G
Citation: Mp. Sperandeo et al., MOLECULAR ANALYSIS OF PATIENTS AFFECTED BY HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - REPORT OF A NEW MUTATION IN EXON-8 AND A DELETION IN INTRON-11, Journal of inherited metabolic disease, 18(2), 1995, pp. 211-214
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY
Authors: CHIURAZZI P KOZAK L GENUARDI M GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONE L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G
Citation: P. Chiurazzi et al., FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY, American journal of human genetics, 57(4), 1995, pp. 919-919
THE MOLECULAR-BASIS OF HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN ITALIAN FAMILIES, AND REPORT OF 4 NOVEL MUTATIONS
Authors: SEBASTIO G SPERANDEO MP PANICO M DEFRANCHIS R KRAUS JP ANDRIA G
Citation: G. Sebastio et al., THE MOLECULAR-BASIS OF HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN ITALIAN FAMILIES, AND REPORT OF 4 NOVEL MUTATIONS, American journal of human genetics, 56(6), 1995, pp. 1324-1333
Risultati: 1-14 |