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Results: 76-100/102
MICRODELETION OF CHROMOSOME-22 IS A CAUSE OF ISOLATED D-TRANSPOSITIONOF GREAT-ARTERIES
Authors: DIGILIO MC MARINO B MINGARELLI R MELCHIONDA S NOVELLI G DALLAPICCOLA B
Citation: Mc. Digilio et al., MICRODELETION OF CHROMOSOME-22 IS A CAUSE OF ISOLATED D-TRANSPOSITIONOF GREAT-ARTERIES, Journal of the American College of Cardiology, 1994, pp. 10000261-10000261
MALE HYPOGONADISM IN MYOTONIC-DYSTROPHY IS RELATED TO (CTG)N TRIPLET MUTATION
Authors: MASTROGIACOMO I PAGANI E NOVELLI G MENEGAZZO E BONANNI G DALLAPICCOLA B ANGELINI C GENNARELLI M
Citation: I. Mastrogiacomo et al., MALE HYPOGONADISM IN MYOTONIC-DYSTROPHY IS RELATED TO (CTG)N TRIPLET MUTATION, Journal of endocrinological investigation, 17(5), 1994, pp. 381-383
EXCLUSION OF LINKAGE WITH CHROMOSOME-21 IN FAMILIES WITH RECURRENCE OF NON-DOWNS ATRIOVENTRICULAR-CANAL
Authors: GENNARELLI M NOVELLI G DIGILIO MC GIANNOTTI A MARINO B DALLAPICCOLA B
Citation: M. Gennarelli et al., EXCLUSION OF LINKAGE WITH CHROMOSOME-21 IN FAMILIES WITH RECURRENCE OF NON-DOWNS ATRIOVENTRICULAR-CANAL, Human genetics, 94(6), 1994, pp. 708-710
FIRST-TRIMESTER PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY USING MICROSATELLITE MARKERS
Authors: CICERO SL CAPON F MELCHIONDA S GENNARELLI M NOVELLI G DALLAPICCOLA B
Citation: Sl. Cicero et al., FIRST-TRIMESTER PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY USING MICROSATELLITE MARKERS, Prenatal diagnosis, 14(6), 1994, pp. 459-462
PRENATAL-DIAGNOSIS OF X-LINKED RETINITIS-PIGMENTOSA (RP) IN 5 PREGNANCIES AT RISK
Authors: IAMPIERI MP MINGARELLI R LEGUERN E NOVELLI G DALLAPICCOLA B
Citation: Mp. Iampieri et al., PRENATAL-DIAGNOSIS OF X-LINKED RETINITIS-PIGMENTOSA (RP) IN 5 PREGNANCIES AT RISK, Prenatal diagnosis, 14(4), 1994, pp. 285-289
A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN EXON 17B OF THE CFTR GENE -A SITE FOR RARE MUTATIONS
Authors: MERCIER B LISSENS W NOVELLI G KALAYDJIEVA L DEARCE M KAPRANOV N KLAIN NC ESTIVILL X PALACIO A CASHMAN S SAVOV A AUDREZET MP DALLAPICOLLA B LIEBAERS I QUERE I RAGUENES O VERLINGUE C FEREC C
Citation: B. Mercier et al., A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN EXON 17B OF THE CFTR GENE -A SITE FOR RARE MUTATIONS, Journal of Medical Genetics, 31(9), 1994, pp. 731-734
MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: GENNARELLI M DALLAPICCOLA B BAIGET M MARTORELL L NOVELLI G
Citation: M. Gennarelli et al., MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS, Journal of Medical Genetics, 31(12), 1994, pp. 980-980
CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY
Authors: ASHIZAWA T ANVRET M BAIGET M BARCELO JM BRUNNER H COBO AM DALLAPICCOLA B FENWICK RG GRANDELL U HARLEY H JUNIEN C KOCH MC KORNELUK RG LAVEDAN C MIKI T MULLEY JC DEMUNAIN AL NOVELLI G ROSES AD SELTZER WK SHAW DJ SMEETS H SUTHERLAND GR YAMAGATA H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY, American journal of human genetics, 54(3), 1994, pp. 414-423
DETECTION BY CAPILLARY ELECTROPHORESIS OF RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM - ANALYSIS OF A POLYMERASE CHAIN REACTION-AMPLIFIED PRODUCT OF THE DXS-164 LOCUS IN THE DYSTROPHIN GENE
Authors: DELPRINCIPE D IAMPIERI MP GERMANI D MENICHELLI A NOVELLI G DALLAPICCOLA B
Citation: D. Delprincipe et al., DETECTION BY CAPILLARY ELECTROPHORESIS OF RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM - ANALYSIS OF A POLYMERASE CHAIN REACTION-AMPLIFIED PRODUCT OF THE DXS-164 LOCUS IN THE DYSTROPHIN GENE, Journal of chromatography, 638(2), 1993, pp. 277-281
LOCALIZATION OF FRIEDREICH ATAXIA PHENOTYPE WITH SELECTIVE VITAMIN-E-DEFICIENCY TO CHROMOSOME-8Q BY HOMOZYGOSITY MAPPING
Authors: HAMIDA CB DOERFLINGER N BELAL S LINDER C REUTENAUER L DIB C GYAPAY G VIGNAL A LEPASLIER D COHEN D PANDOLFO M MOKINI V NOVELLI G HENTATI F BENHAMIDA M MANDEL JL KOENIG M
Citation: Cb. Hamida et al., LOCALIZATION OF FRIEDREICH ATAXIA PHENOTYPE WITH SELECTIVE VITAMIN-E-DEFICIENCY TO CHROMOSOME-8Q BY HOMOZYGOSITY MAPPING, Nature genetics, 5(2), 1993, pp. 195-200
MOLECULAR CHARACTERIZATION OF A FRAMESHIFT MUTATION IN EXON 19 OF THECFTR GENE
Authors: SANGIUOLO F LOCICERO S MACERATESI P QUATTRUCCI S NOVELLI G DALLAPICCOLA B
Citation: F. Sangiuolo et al., MOLECULAR CHARACTERIZATION OF A FRAMESHIFT MUTATION IN EXON 19 OF THECFTR GENE, Human mutation, 2(5), 1993, pp. 422-424
PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES
Authors: CAPON F LOCICERO S NOVELLI G DALLAPICCOLA B
Citation: F. Capon et al., PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES, PCR methods and applications, 3(3), 1993, pp. 211-212
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993)
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G GENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993), Human molecular genetics, 2(9), 1993, pp. 1523-1523
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G BENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS, Human molecular genetics, 2(7), 1993, pp. 1007-1014
A TOOL FOR THE MOLECULAR ANALYSIS OF AN EARLY LETHAL DISEASE - SLIDE-PCR IN SPINAL MUSCULAR-ATROPHY PATIENTS
Authors: CAPON F MELCHIONDA S GENNARELLI M LOCICERO S GIACANELLI M NOVELLI G DALLAPICCOLA B
Citation: F. Capon et al., A TOOL FOR THE MOLECULAR ANALYSIS OF AN EARLY LETHAL DISEASE - SLIDE-PCR IN SPINAL MUSCULAR-ATROPHY PATIENTS, Molecular and cellular probes, 7(3), 1993, pp. 221-226
(CTG)N TRIPLET MUTATION AND PHENOTYPE MANIFESTATIONS IN MYOTONIC-DYSTROPHY PATIENTS
Authors: NOVELLI G GENNARELLI M MENEGAZZO E MOSTACCIUOLO ML PIZZUTI A FATTORINI C TESSAROLO D TOMELLERI G GIACANELLI M DANIELI GA RIZZUTO N CASKEY CT ANGELINI C DALLAPICCOLA B
Citation: G. Novelli et al., (CTG)N TRIPLET MUTATION AND PHENOTYPE MANIFESTATIONS IN MYOTONIC-DYSTROPHY PATIENTS, Biochemical medicine and metabolic biology, 50(1), 1993, pp. 85-92
THE DYNAMIC GENOMICS OF MYOTONIC-DYSTROPHY AND ITS CLINICAL RELEVANCE- AN OVERVIEW
Authors: NOVELLI G GENNARELLI M FATTORINI C ABBRUZZESE C DALLAPICCOLA B
Citation: G. Novelli et al., THE DYNAMIC GENOMICS OF MYOTONIC-DYSTROPHY AND ITS CLINICAL RELEVANCE- AN OVERVIEW, Biomedicine & pharmacotherapy, 47(8), 1993, pp. 321-330
PLASMID DNA AND LOW-FREQUENCY ELECTROMAGNETIC-FIELDS
Authors: DAGRUMA L COLOSIMO A ANGELONI U NOVELLI G DALLAPICCOLA B
Citation: L. Dagruma et al., PLASMID DNA AND LOW-FREQUENCY ELECTROMAGNETIC-FIELDS, Biomedicine & pharmacotherapy, 47(2-3), 1993, pp. 101-105
ISOLATION AND CLONING BY A POLYMERASE CHAIN-REACTION OF A GENOMIC DNAFRAGMENT OF THE HUMAN SLOW SKELETAL TROPONIN (TNNT1) GENE
Authors: NOVELLI G GENNARELLI M SANGIUOLO F DAGRUMA L LOCICERO S MELCHIONDA S DALLAPICCOLA B
Citation: G. Novelli et al., ISOLATION AND CLONING BY A POLYMERASE CHAIN-REACTION OF A GENOMIC DNAFRAGMENT OF THE HUMAN SLOW SKELETAL TROPONIN (TNNT1) GENE, Cell biochemistry and function, 11(3), 1993, pp. 187-191
PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME
Authors: DALLAPICCOLA B MANDICH P BELLONE E SELICORNI A MOKIN V AJMAR F NOVELLI G
Citation: B. Dallapiccola et al., PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME, American journal of medical genetics, 47(6), 1993, pp. 921-924
CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN MYOTONIC-DYSTROPHY
Authors: ANGELINI C MENEGAZZO E MOSTACCIUOLO ML MELACINI P NOVELLI G GENNARELLI M DALLAPICCOLA B
Citation: C. Angelini et al., CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN MYOTONIC-DYSTROPHY, Neurology, 43(4), 1993, pp. 413-413
HUMAN ELONGATION FACTOR-EF-1-BETA - CLONING AND CHARACTERIZATION OF THE EF1-BETA-5A GENE AND ASSIGNMENT OF EF-1-BETA ISOFORMS TO CHROMOSOME-2, CHROMOSOME-5, CHROMOSOME-15 AND CHROMOSOME-X
Authors: PIZZUTI A GENNARELLI M NOVELLI G COLOSIMO A LOCICERO S CASKEY CT DALLAPICCOLA B
Citation: A. Pizzuti et al., HUMAN ELONGATION FACTOR-EF-1-BETA - CLONING AND CHARACTERIZATION OF THE EF1-BETA-5A GENE AND ASSIGNMENT OF EF-1-BETA ISOFORMS TO CHROMOSOME-2, CHROMOSOME-5, CHROMOSOME-15 AND CHROMOSOME-X, Biochemical and biophysical research communications, 197(1), 1993, pp. 154-162
CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING
Authors: ASHIZAWA T ANVRET M BAIGET M BRUNNER H COBO A DALLAPICOOLA B FENWICK RG HARLEY H JUNIEN C KOCH M KORNELUK RG LEVEDAN C MIKI T NOVELLI G ROSES AD SELTZER WK SMEETS H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING, American journal of human genetics, 53(3), 1993, pp. 2-2
MOLECULAR SUPPORT TO NORTH EURASIAN ORIGIN OF THE MYOTONIC-DYSTROPHY MUTATION
Authors: NOVELLI G GENNARELLI M SPEDINI G DESTROBISOL G DALLAPICCOLA B
Citation: G. Novelli et al., MOLECULAR SUPPORT TO NORTH EURASIAN ORIGIN OF THE MYOTONIC-DYSTROPHY MUTATION, American journal of human genetics, 53(3), 1993, pp. 839-839
PROGNOSTIC ASSESSMENT OF PREGNANCIES AT RISK FOR MYOTONIC-DYSTROPHY BASED ON THE CTG EXPANSION
Authors: GENNARELLI M COBO A FATTORINI C MARTORELL L CARRERA M NOVELLI G BAIGET M DALLAPICCOLA B
Citation: M. Gennarelli et al., PROGNOSTIC ASSESSMENT OF PREGNANCIES AT RISK FOR MYOTONIC-DYSTROPHY BASED ON THE CTG EXPANSION, American journal of human genetics, 53(3), 1993, pp. 1410-1410
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