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Results: 1-15 |
Results: 15

Authors: SCACCHI R DEBERNARDINI L MANTUANO E VILARDO T DONINI LM RUGGERI M GEMMA AT PASCONE R CORBO RM
Citation: R. Scacchi et al., DNA POLYMORPHISMS OF APOLIPOPROTEIN-B AND ANGIOTENSIN-I-CONVERTING-ENZYME GENES AND RELATIONSHIPS WITH LIPID-LEVELS IN ITALIAN PATIENTS WITH VASCULAR DEMENTIA OR ALZHEIMERS-DISEASE, Dementia and geriatric cognitive disorders, 9(4), 1998, pp. 186-190

Authors: TRETTEL F MANTUANO E VENEZIANO L SABBADINI G OLSEN A OPHOFF RA FRANTS RR JODICE C FRONTALI M
Citation: F. Trettel et al., MOLECULAR ANALYSIS OF THE GENE CACNA1A - REFINED MAPPING OF THE CONTAINING REGION AND SCREENING FOR MUTATIONS IN EA2, European journal of human genetics, 6, 1998, pp. 4186-4186

Authors: MANTUANO E TRETTEL F OLSEN AS LENNON G FRONTALI M JODICE C
Citation: E. Mantuano et al., LOCALIZATION AND GENOMIC STRUCTURE OF HUMAN DEOXYHYPUSINE SYNTHASE GENE ON CHROMOSOME 19P13.2 DISTAL 19P13.1, Gene, 215(1), 1998, pp. 153-157

Authors: WENGLER GS GILIANI S FIORINI M MELLA P MANTUANO E ZANOLA A POLLONINI G EIBL MM UGAZIO AG NOTARANGELO LD PAROLINI O
Citation: Gs. Wengler et al., MUTATION ANALYSIS BY A NONRADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN 9 FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1), British Journal of Haematology, 101(3), 1998, pp. 586-591

Authors: GIUNTI P SABBADINI G SWEENEY MG DAVIS MB VENEZIANO L MANTUANO E FEDERICO A PLASMATI R FRONTALI M WOOD NW
Citation: P. Giunti et al., THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES, Brain, 121, 1998, pp. 459-467

Authors: JODICE C MANTUANO E VENEZIANO L TRETTEL F SABBADINI G CALANDRIELLO L FRANCIA A SPADARO M PIERELLI F SALVI F OPHOFF RA FRANTS RR FRONTALI M
Citation: C. Jodice et al., EPISODIC ATAXIA TYPE-2 (EA2) AND SPINOCEREBELLAR ATAXIA TYPE-6 (SCA6)DUE TO CAG REPEAT EXPANSION IN THE CACNA1A GENE ON CHROMOSOME 19P, Human molecular genetics, 6(11), 1997, pp. 1973-1978

Authors: SCACCHI R CORBO RM RICKARDS O MANTUANO E GUEVARA A DESTEFANO GF
Citation: R. Scacchi et al., APOLIPOPROTEIN-B AND APOLIPOPROTEIN-E GENETIC POLYMORPHISMS IN THE CAYAPA INDIANS OF ECUADOR, Human biology, 69(3), 1997, pp. 375-382

Authors: CARBO RM VILARDO T MANTUANO E RUGGERI M GEMMA AT SCACCHI R
Citation: Rm. Carbo et al., APOLIPOPROTEIN-B AND APOLIPOPROTEIN-E, AND ANGIOTENSIN-I CONVERTING-ENZYME (ACE) GENETIC POLYMORPHISMS IN ITALIAN WOMEN WITH CORONARY-ARTERY-DISEASE (CAD) AND THEIR RELATIONSHIPS WITH PLASMA-LIPID AND APOLIPOPROTEIN LEVELS, Clinical genetics, 52(2), 1997, pp. 77-82

Authors: CALANDRIELLO L VENEZIANO L FRANCIA A SABBADINI G COLONNESE C MANTUANO E JODICE C TRETTEL F VIVIANI P MANFREDI M FRONTALI M
Citation: L. Calandriello et al., ACETAZOLAMIDE-RESPONSIVE EPISODIC ATAXIA IN AN ITALIAN FAMILY REFINESGENE-MAPPING ON CHROMOSOME 19P13, Brain, 120, 1997, pp. 805-812

Authors: FRONTALI M SABBADINI G NOVELLETTO A JODICE C NASO F SPADARO M GIUNTI P JACOPINI AG VENEZIANO L MANTUANO E MALASPINA P ULIZZI L BRICE A DURR A TERRENATO L
Citation: M. Frontali et al., GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS, Annals of Human Genetics, 60, 1996, pp. 423-435

Authors: VILLA A NOTARANGELO L MACCHI P MANTUANO E CAVAGNI G BRUGNONI D STRINA D PATROSSO MC RAMENGHI U SACCO MG UGAZIO A VEZZONI P
Citation: A. Villa et al., X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE, Nature genetics, 9(4), 1995, pp. 414-417

Authors: SCACCHI R DEBERNARDINI L MANTUANO E DONINI LM VILARDO T CORBO RM
Citation: R. Scacchi et al., APOLIPOPROTEIN-E (APOE) ALLELE FREQUENCIES IN LATE-ONSET SPORADIC ALZHEIMERS-DISEASE (AD), MIXED DEMENTIA AND VASCULAR DEMENTIA - LACK OF ASSOCIATION OF EPSILON-4 ALLELE WITH AD IN ITALIAN OCTOGENARIAN PATIENTS, Neuroscience letters, 201(3), 1995, pp. 231-234

Authors: MACCHI P VILLA A STRINA D SACCO MG MORALI F BRUGNONI D GILIANI S MANTUANO E FASTH A ANDERSSON B ZEGERS BJM CAVAGNI G REZNICK I LEVY J ZANBAR I PORAT Y AIRO P PLEBANI A VEZZONI P NOTARANGELO LD
Citation: P. Macchi et al., CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY, American journal of human genetics, 56(4), 1995, pp. 898-906

Authors: VILLA A NOTARANGELO LD DISANTO JP MACCHI PP STRINA D FRATTINI A LUCCHINI F PATROSSO CM GILIANI S MANTUANO E AGOSTI S NOCERA G KROCZEK RA FISCHER A UGAZIO AG DESAINTBASILE G VEZZONI P
Citation: A. Villa et al., ORGANIZATION OF THE HUMAN CD40L GENE - IMPLICATIONS FOR MOLECULAR DEFECTS IN X-CHROMOSOME-LINKED HYPER-IGM SYNDROME AND PRENATAL-DIAGNOSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 91(6), 1994, pp. 2110-2114

Authors: NOTARANGELO LD CANDOTTI F PAROLINI O MANTUANO E GILIANI S LANFRANCHI A ALBERTINI A
Citation: Ld. Notarangelo et al., APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS), DNA and cell biology, 12(7), 1993, pp. 645-649
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