ACNP - Italian Periodicals Catalogue

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Results: 1-25 |

Results: 25

FLUORESCENT PCR AND AUTOMATED FRAGMENT ANALYSIS FOR THE CLINICAL-APPLICATION OF PREIMPLANTATION GENETIC DIAGNOSIS OF MYOTONIC-DYSTROPHY (STEINERTS-DISEASE)

Authors: SERMON K DEVOS A VANDEVELDE H SENECA S LISSENS W JORIS H VANDERVORST M VANSTEIRTEGHEM A LIEBAERS I

Citation: K. Sermon et al., FLUORESCENT PCR AND AUTOMATED FRAGMENT ANALYSIS FOR THE CLINICAL-APPLICATION OF PREIMPLANTATION GENETIC DIAGNOSIS OF MYOTONIC-DYSTROPHY (STEINERTS-DISEASE), Molecular human reproduction (Print), 4(8), 1998, pp. 791-796

DNA POLYMORPHISMS IN MITOCHONDRIAL (MT) TRANSFER-RNA GENES

Authors: SENECA S DEMEIRLEIR L LISSENS W LIEBAERS I

Citation: S. Seneca et al., DNA POLYMORPHISMS IN MITOCHONDRIAL (MT) TRANSFER-RNA GENES, European journal of human genetics, 6, 1998, pp. 4098-4098

THE MOLECULAR-BASIS OF ANTITHROMBIN DEFICIENCY IN BELGIAN AND DUTCH FAMILIES

Authors: JOCHMANS K LISSENS W SENECA S CAPEL P CHATELAIN B MEEUS P OSSELAER JC PEERLINCK K SEGHERS J SLACMEULDER M STIBBE J VANDELOO J VERMYLEN J LIEBAERS I DEWAELE M

Citation: K. Jochmans et al., THE MOLECULAR-BASIS OF ANTITHROMBIN DEFICIENCY IN BELGIAN AND DUTCH FAMILIES, Thrombosis and haemostasis, 80(3), 1998, pp. 376-381

PREIMPLANTATION DIAGNOSIS FOR MYOTONIC-DYSTROPHY (DM) IN NON-INFORMATIVE COUPLES USING TRIPLET REPEAT PRIMED POLYMERASE-CHAIN-REACTION (TP-PCR)

Authors: SERMON K SENECA S LISSENS W DEVOS A VANDERVORST M VANSTEIRTEGHEM A LIEBAERS I

Citation: K. Sermon et al., PREIMPLANTATION DIAGNOSIS FOR MYOTONIC-DYSTROPHY (DM) IN NON-INFORMATIVE COUPLES USING TRIPLET REPEAT PRIMED POLYMERASE-CHAIN-REACTION (TP-PCR), Human reproduction (Oxford. Print), 13, 1998, pp. 157-157

PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY IN A FAMILY - DIFFERENT CLINICAL PRESENTATION IN 2 SIBLINGS

Authors: DEMEIRLEIR L SPECOLA N SENECA S LISSENS W

Citation: L. Demeirleir et al., PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY IN A FAMILY - DIFFERENT CLINICAL PRESENTATION IN 2 SIBLINGS, Journal of inherited metabolic disease, 21(3), 1998, pp. 224-226

FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE

Authors: DIONISIVICI C SENECA S ZEVIANI M FARIELLO G RIMOLDI M BERTINI E DEMEIRLEIR L

Citation: C. Dionisivici et al., FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE, Journal of inherited metabolic disease, 21(1), 1998, pp. 2-8

PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ABSENCE OF SUBUNIT-X

Authors: DEMEIRLEIR L LISSENS W BENELLI C MARSAC C DEKLERK J SCHOLTE J VANDIGGELEN O KLEIJER W SENECA S LIEBAERS I

Citation: L. Demeirleir et al., PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ABSENCE OF SUBUNIT-X, Journal of inherited metabolic disease, 21(1), 1998, pp. 9-16

PITFALLS IN THE DIAGNOSIS OF MTDNA MUTATIONS

Authors: SENECA S LISSENS W LIEBAERS I VANDENBERGH P NASSOGNE MC BENATAR A DEMEIRLEIR L

Citation: S. Seneca et al., PITFALLS IN THE DIAGNOSIS OF MTDNA MUTATIONS, Journal of Medical Genetics, 35(11), 1998, pp. 963-964

CAREY-FINEMAN-ZITER-SYNDROME - A NEW CASE-REPORT

Authors: AMROM D CRAS P CEUTERICK C MARTIN JJ EYSKENS F DOM L VANDAMME M HAFFEWIJN I VANDEBROEK H VANCOSTER R SENECA S VANTHIENEN L JANSSENS G DEDEYN PP

Citation: D. Amrom et al., CAREY-FINEMAN-ZITER-SYNDROME - A NEW CASE-REPORT, Brain pathology, 7(4), 1997, pp. 1103-1103

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

PREIMPLANTATION GENETIC DIAGNOSIS FOR STEINERTS-DISEASE USING FLUORESCENT PCR AND THE AUTOMATED LASER FLUORESCENCE FRAGMENT ANALYZER

Authors: SERMON K SENECA S LISSENS W VANDEVELDE H VANSTEIRTEGHEM A LIEBAERS I

Citation: K. Sermon et al., PREIMPLANTATION GENETIC DIAGNOSIS FOR STEINERTS-DISEASE USING FLUORESCENT PCR AND THE AUTOMATED LASER FLUORESCENCE FRAGMENT ANALYZER, Human reproduction, 12, 1997, pp. 145-145

CLINICAL-APPLICATION OF PREIMPLANTATION DIAGNOSIS FOR MYOTONIC-DYSTROPHY

Authors: SERMON K LISSENS W JORIS H SENECA S DESMYTTERE S DEVROEY P VANSTEIRTEGHEM A LIEBAERS I

Citation: K. Sermon et al., CLINICAL-APPLICATION OF PREIMPLANTATION DIAGNOSIS FOR MYOTONIC-DYSTROPHY, Prenatal diagnosis, 17(10), 1997, pp. 925-932

MOLECULAR ANALYSIS IN 23 HUNTER-DISEASE FAMILIES

Authors: LISSENS W SENECA S LIEBAERS I

Citation: W. Lissens et al., MOLECULAR ANALYSIS IN 23 HUNTER-DISEASE FAMILIES, Journal of inherited metabolic disease, 20(3), 1997, pp. 453-456

PEARSON MARROW PANCREAS SYNDROME - A MOLECULAR STUDY AND CLINICAL MANAGEMENT

Authors: SENECA S DEMEIRLEIR L DESCHEPPER J BALDUCK N JOCHMANS K LIEBAERS I LISSENS W

Citation: S. Seneca et al., PEARSON MARROW PANCREAS SYNDROME - A MOLECULAR STUDY AND CLINICAL MANAGEMENT, Clinical genetics, 51(5), 1997, pp. 338-342

MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY

Authors: LISSENS W DEMEIRLEIR L SENECA S BENELLI C MARSAC C POLLTHE BT BRIONES P RUITENBEEK W VANDIGGELEN O CHAIGNE D RAMAEKERS V LIEBAERS I

Citation: W. Lissens et al., MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY, Human mutation, 7(1), 1996, pp. 46-51

CYSTIC-FIBROSIS AND INFERTILITY CAUSED BY CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS AND RELATED CLINICAL ENTITIES

Authors: LISSENS W MERCIER B TOURNAYE H BONDUELLE M FEREC C SENECA S DEVROEY P SILBER S VANSTEIRTEGHEM A LIEBAERS I

Citation: W. Lissens et al., CYSTIC-FIBROSIS AND INFERTILITY CAUSED BY CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS AND RELATED CLINICAL ENTITIES, Human reproduction, 11, 1996, pp. 55-78

A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY

Authors: LISSENS W VERVOORT R VANREGEMORTER N VANBOGAERT P FREUND M VERELLENDUMOULIN C SENECA S LIEBAERS I

Citation: W. Lissens et al., A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY, Journal of inherited metabolic disease, 19(6), 1996, pp. 782-786

A MITOCHONDRIAL-DNA MICRODELETION IN A NEWBORN GIRL WITH TRANSIENT LACTIC-ACIDOSIS

Authors: SENECA S ABRAMOWICZ M LISSENS W MULLER MF VAMOS E DEMEIRLEIR L

Citation: S. Seneca et al., A MITOCHONDRIAL-DNA MICRODELETION IN A NEWBORN GIRL WITH TRANSIENT LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 19(2), 1996, pp. 115-118

PYRUVATE-DEHYDROGENASE DEFICIENCY IN A FEMALE DUE TO A 4-BASE-PAIR DELETION IN EXON-10 OF THE E1-ALPHA-GENE

Authors: LISSENS W DESGUERRE I BENELLI C MARSAC C FOUQUE F HAENGGELI C PONSOT G SENECA S LIEBAERS I DEMEIRLEIR L

Citation: W. Lissens et al., PYRUVATE-DEHYDROGENASE DEFICIENCY IN A FEMALE DUE TO A 4-BASE-PAIR DELETION IN EXON-10 OF THE E1-ALPHA-GENE, Human molecular genetics, 4(2), 1995, pp. 307-308

BILATERAL STRIATAL NECROSIS WITH A NOVEL POINT MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE

Authors: DEMEIRLEIR L SENECA S LISSENS W SCHOENTJES E DESPRECHINS B

Citation: L. Demeirleir et al., BILATERAL STRIATAL NECROSIS WITH A NOVEL POINT MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE, Pediatric neurology, 13(3), 1995, pp. 242-246

FURTHER DEFINITION OF THE SEQUENCE AND POSITION REQUIREMENTS OF THE ARGININE CONTROL ELEMENT THAT MEDIATES REPRESSION AND INDUCTION BY ARGININE IN SACCHAROMYCES-CEREVISIAE

Authors: CRABEEL M DERIJCKE M SENECA S HEIMBERG H PFEIFFER I MATISOVA A

Citation: M. Crabeel et al., FURTHER DEFINITION OF THE SEQUENCE AND POSITION REQUIREMENTS OF THE ARGININE CONTROL ELEMENT THAT MEDIATES REPRESSION AND INDUCTION BY ARGININE IN SACCHAROMYCES-CEREVISIAE, Yeast, 11(14), 1995, pp. 1367-1380

IMPORTANCE OF SEQUENCE-ANALYSIS IN NARP SYNDROME

Authors: SENECA S DEMEIRLEIR L LIEBAERS I LISSENS W

Citation: S. Seneca et al., IMPORTANCE OF SEQUENCE-ANALYSIS IN NARP SYNDROME, Journal of inherited metabolic disease, 18(1), 1995, pp. 97-98

DNA DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY

Authors: SENECA S LISSENS W

Citation: S. Seneca et W. Lissens, DNA DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY, Journal of inherited metabolic disease, 18, 1995, pp. 34-44

BILATERAL STRIATAL NECROSIS WITH A NOVEL POINT MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE

Authors: DEMEIRLEIR L SENECA S LISSENS W SCHOENTJES E BRUYLAND M DESPRECHINS B LIEBAERS I

Citation: L. Demeirleir et al., BILATERAL STRIATAL NECROSIS WITH A NOVEL POINT MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE, Annals of neurology, 36(3), 1994, pp. 522-522

THE CARBOXY-TERMINAL DOMAIN OF C-MYB ACTIVATES REPORTER GENE-EXPRESSION IN YEAST

Authors: SENECA S PUNYAMMALEE B SUREAU A PERBAL B DVORAK M CRABEEL M

Citation: S. Seneca et al., THE CARBOXY-TERMINAL DOMAIN OF C-MYB ACTIVATES REPORTER GENE-EXPRESSION IN YEAST, Oncogene, 8(9), 1993, pp. 2335-2342

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