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Results: 1-25 | 26-30
Results: 1-25/30
IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION
Authors: TUPLER R BARBIERATO L SEWRY CA FERLINI A MARASCHIO P TIEPOLO L
Citation: R. Tupler et al., IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION, European journal of human genetics, 6, 1998, pp. 1103-1103
NOVEL TRANSTHYRETIN MISSENSE MUTATION (THR34) IN AN ITALIAN FAMILY WITH HEREDITARY AMYLOIDOSIS
Authors: PATROSSO MC SALVI F DEGRANDIS D VEZZONI P JACOBSON DR FERLINI A
Citation: Mc. Patrosso et al., NOVEL TRANSTHYRETIN MISSENSE MUTATION (THR34) IN AN ITALIAN FAMILY WITH HEREDITARY AMYLOIDOSIS, American journal of medical genetics, 77(2), 1998, pp. 135-138
IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION
Authors: TUPLER R BARBIERATO L MEMMI M SEWRY CA DEGRANDIS D MARASCHIO P TIEPOLO L FERLINI A
Citation: R. Tupler et al., IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION, Journal of Medical Genetics, 35(9), 1998, pp. 778-783
THE 5'-REGION OF INTRON-11 OF THE DYSTROPHIN GENE CONTAINS TARGET SEQUENCES FOR MOBILE ELEMENTS AND 3 OVERLAPPING ORFS
Authors: FERLINI A MUNTONI F
Citation: A. Ferlini et F. Muntoni, THE 5'-REGION OF INTRON-11 OF THE DYSTROPHIN GENE CONTAINS TARGET SEQUENCES FOR MOBILE ELEMENTS AND 3 OVERLAPPING ORFS, Biochemical and biophysical research communications, 242(2), 1998, pp. 401-406
A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY
Authors: FERLINI A GALIE N MERLINI L SEWRY C BRANZI A MUNTONI F
Citation: A. Ferlini et al., A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY, American journal of human genetics, 63(2), 1998, pp. 436-446
DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
Authors: MUNTONI F DILENARDA A PORCU M SINAGRA G MATEDDU A MARROSU G FERLINI A CAU M MILASIN J MELIS MA MARROSU MG CIANCHETTI C SANNA A FALASCHI A CAMERINI F GIACCA M MESTRONI L
Citation: F. Muntoni et al., DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY, HEART, 78(6), 1997, pp. 608-612
PRENATAL-DIAGNOSIS IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: NAOM I SEWRY C DALESSANDRO M TOPALOGLU H FERLINI A WILSON L DUBOWITZ V MUNTONI F
Citation: I. Naom et al., PRENATAL-DIAGNOSIS IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 7(3), 1997, pp. 176-179
THE ROLE OF IMMUNOCYTOCHEMISTRY AND LINKAGE ANALYSIS IN THE PRENATAL-DIAGNOSIS OF MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: NAOM I DALESSANDRO M SEWRY C FERLINI A TOPALOGLU H HELBLINGLECLERC A GUICHENEY P SCHWARTZ K AKCOREN Z DUBOWITZ V MUNTONI F
Citation: I. Naom et al., THE ROLE OF IMMUNOCYTOCHEMISTRY AND LINKAGE ANALYSIS IN THE PRENATAL-DIAGNOSIS OF MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Human genetics, 99(4), 1997, pp. 535-540
EXPRESSION OF LAMININ CHAINS IN SKIN IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: SEWRY CA DALESSANDRO M WILSON LA SOROKIN LM NAOM I BRUNO S FERLINI A DUBOWITZ V MUNTONI F
Citation: Ca. Sewry et al., EXPRESSION OF LAMININ CHAINS IN SKIN IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Neuropediatrics, 28(4), 1997, pp. 217-222
REFINEMENT OF THE LAMININ ALPHA-2 CHAIN LOCUS TO HUMAN-CHROMOSOME 6Q2IN SEVERE AND MILD MEROSIN DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: NAOM IS DALESSANDRO M TOPALOGLU H SEWRY C FERLINI A HELBLINGLECLERC A GUICHENEY P WEISSENBACH J SCHWARTZ K BUSHBY K PHILPOT J DUBOWITZ V MUNTONI F
Citation: Is. Naom et al., REFINEMENT OF THE LAMININ ALPHA-2 CHAIN LOCUS TO HUMAN-CHROMOSOME 6Q2IN SEVERE AND MILD MEROSIN DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 34(2), 1997, pp. 99-104
THE DYSTROPHIN GENE INTRON-11 HAS TARGET SEQUENCES FOR MOBILE ELEMENTS AND ONE ORF TRANSCRIBED IN SKELETAL AND HEART-MUSCLE
Authors: FERLINI A MUNTONI F
Citation: A. Ferlini et F. Muntoni, THE DYSTROPHIN GENE INTRON-11 HAS TARGET SEQUENCES FOR MOBILE ELEMENTS AND ONE ORF TRANSCRIBED IN SKELETAL AND HEART-MUSCLE, American journal of human genetics, 61(4), 1997, pp. 977-977
A NOVEL UPSTREAM PROMOTER DRIVES THE TRANSTHYRETIN GENE-EXPRESSION INHUMAN LIVER AND CEREBELLUM
Authors: OBICI L FERLINI A
Citation: L. Obici et A. Ferlini, A NOVEL UPSTREAM PROMOTER DRIVES THE TRANSTHYRETIN GENE-EXPRESSION INHUMAN LIVER AND CEREBELLUM, American journal of human genetics, 61(4), 1997, pp. 1029-1029
7 NOVEL-ADDITIONAL SMALL MUTATIONS AND A NEW ALTERNATIVE SPLICING IN THE HUMAN DYSTROPHIN GENE DETECTED BY HETERODUPLEX ANALYSIS AND RESTRICTED RT-PCR HETERODUPLEX ANALYSIS OF ILLEGITIMATE TRANSCRIPTS
Authors: BABIERI AM SORIANI N FERLINI A MICHELATO A FERRARI M CARRERA P
Citation: Am. Babieri et al., 7 NOVEL-ADDITIONAL SMALL MUTATIONS AND A NEW ALTERNATIVE SPLICING IN THE HUMAN DYSTROPHIN GENE DETECTED BY HETERODUPLEX ANALYSIS AND RESTRICTED RT-PCR HETERODUPLEX ANALYSIS OF ILLEGITIMATE TRANSCRIPTS, European journal of human genetics, 4(3), 1996, pp. 183-187
ELECTROMYOGRAPHIC FINDINGS IN TRANSTHYRETIN (TTR)-RELATED FAMILIAL AMYLOID POLYNEUROPATHY (FAP)
Authors: MONTAGNA P MARCHELLO L PLASMATI R FERLINI A PATROSSO MC SALVI F
Citation: P. Montagna et al., ELECTROMYOGRAPHIC FINDINGS IN TRANSTHYRETIN (TTR)-RELATED FAMILIAL AMYLOID POLYNEUROPATHY (FAP), ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 101(5), 1996, pp. 423-430
EPIDEMIOLOGY OF CRYPTOSPORIDIOSIS AMONG EUROPEAN AIDS PATIENTS
Authors: PEDERSEN C DANNER S LAZZARIN A GLAUSER MP WEBER R KATLAMA C BARTON SE LUNDGREN JD CLUMECK N DEWIT S SOMMEREIJNS B NIELSEN JO NIELSEN T JENSEN G SKINHOJ P BENTSEN K GERSTOFT J MELBYE M RANKI A VALLE SL BERLUREAU P DIETRICH M SCHWANDER S GOEBEL FD KOSMIDIS J STERGIOU G GOUZIA T PAPADOPOULOS A BANHEGYI D MULCAHY F YUST I BENISHAI Z BENTWICH Z SACKS T MAAYAN S VELLA S CHIESI A ANCARANI F SCALISE G BERTAGGIA A FRANCAVILLA E CALONGHI G EMILIA R CARGNEL A ARLOTTI M CIAMMARUGHI R RIMINI I COLOMBA A DELALLA F FASSIO P FERLINI A FIACCADORI F PASETTI G GIANNELLI F GRILLONE W MONFORTE AD MIGNANI E ANDREA S NUNNARI A ORTONA L PANICHI G PAULUZZI S PIERSANTELLI N RANIERI S RICCIARDIELLO P ROSCIOLI B SORANZO M HEMMER R REISS P ANTUNES F GONZALEZLAHOZ J POLO R CLOTET B GATELL J BUIRA E MIRO J PEHRSON P LUTHY R LEDERGERBER B OLSSON C GLAUSER M HIRSCHEL B JOHNSON A HAWKES S PHILLIPS A BARTON S MORCINEK J PINCHING A COLEMAN D GJORUP I NIEPORT C TEGLBJAERG L THORNVAL A
Citation: C. Pedersen et al., EPIDEMIOLOGY OF CRYPTOSPORIDIOSIS AMONG EUROPEAN AIDS PATIENTS, Genitourinary medicine, 72(2), 1996, pp. 128-131
X-LINKED BULBAR AND SPINAL MUSCULAR-ATROPHY, OR KENNEDY DISEASE - CLINICAL, NEUROPHYSIOLOGICAL, NEUROPATHOLOGICAL, NEUROPSYCHOLOGICAL AND MOLECULAR STUDY OF A LARGE FAMILY
Authors: GUIDETTI D VESCOVINI E MOTTI L GHIDONI E GEMIGNANI F MARBINI A PATROSSO MC FERLINI A SOLIME F
Citation: D. Guidetti et al., X-LINKED BULBAR AND SPINAL MUSCULAR-ATROPHY, OR KENNEDY DISEASE - CLINICAL, NEUROPHYSIOLOGICAL, NEUROPATHOLOGICAL, NEUROPSYCHOLOGICAL AND MOLECULAR STUDY OF A LARGE FAMILY, Journal of the neurological sciences, 135(2), 1996, pp. 140-148
HOMOZYGOSITY AND HETEROZYGOSITY FOR THE TRANSTHYRETIN LEU64 MUTATION - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS
Authors: FERLINI A SALVI F UNCINI A ELCHAMI J WINTER P ALTLAND K REPETTO M LITTARDI M CAMPOLEONI A VEZZONI P PATROSSO MC
Citation: A. Ferlini et al., HOMOZYGOSITY AND HETEROZYGOSITY FOR THE TRANSTHYRETIN LEU64 MUTATION - CLINICAL, BIOCHEMICAL AND MOLECULAR FINDINGS, Clinical genetics, 49(1), 1996, pp. 10-14
DECREASED AFFINITY OF APOLIPOPROTEIN ALL TO HIGH-DENSITY-LIPOPROTEIN IN PATIENTS WITH TRANSTHYRETIN-RELATED AMYLOIDOSIS (MET30, GLN89, PRO36, AND THR34)
Authors: NAKAMURA M TANAKA Y ANDO Y YAMASHITA T SALVI F FERLINI A GOBBI P PATROSSO C UCHINO M ANDO M
Citation: M. Nakamura et al., DECREASED AFFINITY OF APOLIPOPROTEIN ALL TO HIGH-DENSITY-LIPOPROTEIN IN PATIENTS WITH TRANSTHYRETIN-RELATED AMYLOIDOSIS (MET30, GLN89, PRO36, AND THR34), Biochemical and biophysical research communications, 219(2), 1996, pp. 316-321
FACTORS ASSOCIATED WITH THE DEVELOPMENT OF PNEUMOCYSTIS-CARINII PNEUMONIA IN 5,025 EUROPEAN PATIENTS WITH AIDS
Authors: LUNDGREN JD BARTON SE LAZZARIN A DANNER S GOEBEL FD PEHRSON P MULCAHY F KOSMIDIS J PEDERSEN C PHILLIPS AN CLUMECK N DEWIT S SOMMEREIJNS B NIELSEN JO LUNDGREN J NIELSEN T JENSEN G SKINHOJ P BENTSEN K GERSTOFT J MELBYE M RANKI A VALLE SL KATLAMA C BERLUREAU P DIETRICH M SCHWANDER S PAPADOPOULOS A BANHEGYI D YUST I BENISHAI Z BENTWICH Z SACKS T MAAYAN S VELLA S CHIESI A ANCARANI F SCALISE G BERTAGGIA A FRANCAVILLA E CALONGHI G CARGNEL A ARLOTTI M CIAMMARUGHI R COLOMBA A DELALLA F FASSIO P FERLINI A FIACCADORI F PASETTI G GIANNELLI F GRILLONE W DARMINIO A SACCO L MIGNANI E NUNNARI A ORTONA L PANICHI G PAULUZZI S PIERSANTELLI N RANIERI S RICCIARDIELLO P ROSCIOLI B SORANZO M HEMMER R BLOEMKOLK D ANTUNES F PROENCA R GONZALEZLAHOZ J MARTINEZBLANCO L CLOTET B GATELL J BUIRA E MIRO J LUTHY R LEDERGERBER B OLSSON C GLAUSER M HIRSCHEL B JOHNSON A HAWKES S PHILLIPS A BARTON S MORCINEK J PINCHING A COLEMAN D GJORUP I NIELSEN J NIEPORT C TEGLBJAERG L THORNVAL A
Citation: Jd. Lundgren et al., FACTORS ASSOCIATED WITH THE DEVELOPMENT OF PNEUMOCYSTIS-CARINII PNEUMONIA IN 5,025 EUROPEAN PATIENTS WITH AIDS, Clinical infectious diseases, 21(1), 1995, pp. 106-113
AN ITALIAN KINDRED WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITHSUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
Authors: RAGNO M TOURNIERLASSERVE E FIORI MG MANCA A PATROSSO MC FERLINI A SIROCCHI G TROJANO L CHABRIAT H SALVI F
Citation: M. Ragno et al., AN ITALIAN KINDRED WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITHSUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL), Annals of neurology, 38(2), 1995, pp. 231-236
HAPLOTYPE ANALYSIS OF COMMON TRANSTHYRETIN MUTATIONS
Authors: ALMEIDA MR AOYAMAOISHI N SAKAKI Y HOLMGREN G ULF D FERLINI A SALVI F MUNARQUES M BENSON MD SKINNER M COSTA PP SARAIVA MJ
Citation: Mr. Almeida et al., HAPLOTYPE ANALYSIS OF COMMON TRANSTHYRETIN MUTATIONS, Human genetics, 96(3), 1995, pp. 350-354
HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCES IN A MOTHER AND 3 DAUGHTERS - A NEW SYNDROME
Authors: FERLINI A RAGNO R GOBBI P MARINUCCI C ROSSI R ZANETTI A MILAN M CAMERA G CALZOLARI E
Citation: A. Ferlini et al., HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCES IN A MOTHER AND 3 DAUGHTERS - A NEW SYNDROME, American journal of medical genetics, 59(4), 1995, pp. 506-511
ANDROGEN RECEPTOR GENE (CAG)N REPEAT ANALYSIS IN THE DIFFERENTIAL-DIAGNOSIS BETWEEN KENNEDY DISEASE AND OTHER MOTONEURON DISORDERS
Authors: FERLINI A PATROSSO MC GUIDETTI D MERLINI L UNCINI A RAGNO M PLASMATI R FINI S REPETTO M VEZZONI P FORABOSCO A
Citation: A. Ferlini et al., ANDROGEN RECEPTOR GENE (CAG)N REPEAT ANALYSIS IN THE DIFFERENTIAL-DIAGNOSIS BETWEEN KENNEDY DISEASE AND OTHER MOTONEURON DISORDERS, American journal of medical genetics, 55(1), 1995, pp. 105-111
IDENTIFICATION OF 5 NEW MUTATIONS IN DUCHENNE BECKER MUSCULAR-DYSTROPHY (DMD/BMD) ITALIAN PATIENTS BY HETERODUPLEX ANALYSIS PERFORMED ON BOTH GENOMIC DNA AND RESTRICTED RT-PCR PRODUCTS/
Authors: FERRARI M BARBIERI AM SORIANI N FERLINI A CARRERA P
Citation: M. Ferrari et al., IDENTIFICATION OF 5 NEW MUTATIONS IN DUCHENNE BECKER MUSCULAR-DYSTROPHY (DMD/BMD) ITALIAN PATIENTS BY HETERODUPLEX ANALYSIS PERFORMED ON BOTH GENOMIC DNA AND RESTRICTED RT-PCR PRODUCTS/, American journal of human genetics, 57(4), 1995, pp. 1219-1219
DP71 CARDIAC EXPRESSION IN 2 FAMILIES WITH X-LINKED DILATED CARDIOMYOPATHY AND A DYSTROPHIN GENE MUTATION
Authors: MUNTONI F FERLINI A TORELLI S SEWRY C
Citation: F. Muntoni et al., DP71 CARDIAC EXPRESSION IN 2 FAMILIES WITH X-LINKED DILATED CARDIOMYOPATHY AND A DYSTROPHIN GENE MUTATION, American journal of human genetics, 57(4), 1995, pp. 1429-1429
Risultati: 1-25 | 26-30