Authors:
MELCHIONDA S
SERI M
CARELLA M
PIEMONTESE MR
ZHANG XX
ZELANTE L
ROMEO G
GASPARINI P
Citation: S. Melchionda et al., LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME, European journal of human genetics, 6(4), 1998, pp. 345-349
Authors:
GASPARINI P
STANZIALE P
BISCEGLIA L
PRATO G
RESTAGNO G
FORTINA P
BANCHIERI N
ARBUSTINI E
ZELANTE L
Citation: P. Gasparini et al., A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE, European journal of human genetics, 6, 1998, pp. 3056-3056
Authors:
BISCEGLIA L
DAMBROSIO L
PIEMONTESE MR
CARELLA M
AMATI P
BONNEAU D
PILIA G
GASPARINI P
ZELANTE L
Citation: L. Bisceglia et al., MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES, European journal of human genetics, 6, 1998, pp. 4111-4111
Authors:
TOTARO A
CARELLA M
GRIFA A
VALENTINO MA
GASPARINI P
ZELANTE L
DELGIUDICE EM
DELAUNAY J
PERROTTA S
IOLASCON A
Citation: A. Totaro et al., REFINEMENT OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II LOCUS ON CHROMOSOME-20, European journal of human genetics, 6, 1998, pp. 4128-4128
Authors:
SAVOIA A
TONELLI R
GIORDANO P
SAVINO M
STRIPPOLI PL
DEMATTIA D
ZELANTE L
BAGNARA GP
IOLASCON A
Citation: A. Savoia et al., THE THROMBOPOIETIN RECEPTOR (C-MPL) IS NOT INVOLVED IN CONGENITAL THROMBOCYTOPENIA AND ABSENT RADII (TAR), European journal of human genetics, 6, 1998, pp. 4144-4144
Authors:
GASPARINI P
FORTINA P
SURREY S
RABIONET R
MELCHIONDA S
DAGRUMA L
RAPPAPORT E
GOVEA N
MILA MM
ZELANTE L
ESTIVILL X
Citation: P. Gasparini et al., MUTATION 35DELG IN THE CONNEXIN-26 GENE IS THE MAJOR CAUSE OF SPORADIC AND FAMILIAL CONGENITAL DEAFNESS IN MEDITERRANEAN PATIENTS, European journal of human genetics, 6, 1998, pp. 4200-4200
Authors:
CENTRA M
MEMEO E
DAPOLITO M
SAVINO M
IANZANO L
NOTARANGELO A
LIU J
DOGGETT NA
ZELANTE L
SAVOIA A
Citation: M. Centra et al., CHARACTERIZATION OF 2 GENOMIC DELETIONS AND GENOMIC ORGANIZATION OF THE FAA GENE, European journal of human genetics, 6, 1998, pp. 4220-4220
Authors:
BISCEGLIA L
DAMBROSIO L
PIEMONTESE MR
CARELLA M
AMATI P
BONNEAU D
PILIA G
GASPARINI P
ZELANTE L
Citation: L. Bisceglia et al., CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE, Molecular and cellular probes, 12(4), 1998, pp. 255-258
Authors:
CENTRA M
MEMEO E
DAPOLITO M
SAVINO M
IANZANO L
NOTARANGELO A
LIU JM
DOGGETT NA
ZELANTE L
SAVOIA A
Citation: M. Centra et al., FINE EXON-INTRON STRUCTURE OF THE FANCONI-ANEMIA GROUP-A (FAA) GENE AND CHARACTERIZATION OF 2 GENOMIC DELETIONS, Genomics (San Diego, Calif.), 51(3), 1998, pp. 463-467
Authors:
TIRANTI V
DAGRUMA L
PAREYSON D
MORA M
CARRARA F
ZELANTE L
GASPARINI P
ZEVIANI M
Citation: V. Tiranti et al., A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION, Annals of neurology, 43(1), 1998, pp. 98-101
Authors:
CROCE AI
PERLA G
LATINO R
ZELANTE L
CEDDIA A
Citation: Ai. Croce et al., MAY UNUSUAL CYTOGENETIC FINDINGS IN BENIGN OR MALIGNANT BRAIN-TUMORS BE HELPFUL FOR THE CLINICIAN, Cytogenetics and cell genetics, 81(2), 1998, pp. 166-166
Authors:
COLAIZZO D
GRANDONE E
CAPPUCCI G
GIULIANI N
VECCHIONE G
PELLEGRINO M
ZELANTE L
MARTINELLI P
SALVIATI M
MARGAGLIONE M
DIMINNO G
Citation: D. Colaizzo et al., PREVALENCE OF THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE MUTATION IN ITALIAN FAMILIES IN WHICH A NEURAL-TUBE DEFECT OCCURS, Thrombosis research, 91(3), 1998, pp. 221-221
Authors:
GASPARINI P
DEFAZIO A
CROCE AI
STANZIALE P
ZELANTE L
Citation: P. Gasparini et al., USHER-SYNDROME TYPE-III (USH3) LINKED TO CHROMOSOME 3Q IN AN ITALIAN FAMILY, Journal of Medical Genetics, 35(8), 1998, pp. 666-667
Authors:
STRIPPOLI P
SAVOIA A
IOLASCON A
TONELLI R
SAVINO M
GIORDANO P
DAVANZO M
MASSOLO F
LOCATELLI F
BORGNA C
DEMATTIA D
ZELANTE L
PAOLUCCI G
BAGNARA GP
Citation: P. Strippoli et al., MUTATIONAL SCREENING OF THROMBOPOIETIN RECEPTOR GENE (C-MPL) IN PATIENTS WITH CONGENITAL THROMBOCYTOPENIA AND ABSENT RADII (TAR), British Journal of Haematology, 103(2), 1998, pp. 311-314
Authors:
IOLASCON A
DELGIUDICE EM
PERROTTA S
NOBILI B
ZELANTE L
GRANATIERO M
MELCHIONDA S
DELAUNAY J
GASPARINI P
Citation: A. Iolascon et al., CHROMOSOMAL LOCALIZATION OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II (CDA-II), British Journal of Haematology, 102(1), 1998, pp. 3-3
Authors:
TOTARO A
GRIFA A
CARELLA M
ROMMENS JM
VALENTINO MA
ROETTO A
ZELANTE L
GASPARINI P
Citation: A. Totaro et al., CLONING OF A NEW GENE (FB19) WITHIN HLA CLASS-I REGION, Biochemical and biophysical research communications (Print), 250(3), 1998, pp. 555-557
Authors:
GRIFA A
TOTARO A
ROMMENS JM
CARELLA M
ROETTO A
BORGATO L
ZELANTE L
GASPARINI P
Citation: A. Grifa et al., GABA (GAMMA-AMINOBUTYRIC-ACID) NEUROTRANSMISSION - IDENTIFICATION ANDFINE MAPPING OF THE HUMAN GABA(B) RECEPTOR GENE, Biochemical and biophysical research communications (Print), 250(2), 1998, pp. 240-245
Authors:
CARELLA M
STEWART G
AJETUNMOBI JF
PERROTTA S
GROOTENBOER S
TCHERNIA G
DELAUNAY J
TOTARO A
ZELANTE L
GASPARINI P
IOLASCON A
Citation: M. Carella et al., GENOMEWIDE SEARCH FOR DEHYDRATED HEREDITARY STOMATOCYTOSIS (HEREDITARY XEROCYTOSIS) - MAPPING OF LOCUS TO CHROMOSOME-16 (16Q23-QTER), American journal of human genetics, 63(3), 1998, pp. 810-816
Authors:
DELLOSTROLOGO L
CARBONARI D
GALLUCCI M
GASPARINI P
BISCEGLIA L
ZELANTE L
ROSAUD F
NUNES V
PALACIN M
RIZZONI G
Citation: L. Dellostrologo et al., INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION, Journal of the American Society of Nephrology, 8, 1997, pp. 1793-1793
Authors:
PIEMONTESE MR
MEMEO E
CARELLA M
AMATI P
CHOMEL JC
BONNEAU D
PILIA G
CAO A
DRABKIN H
GEMMILL R
ROMMENS J
ZELANTE L
GASPARINI P
BISCEGLIA L
Citation: Mr. Piemontese et al., A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI, European journal of human genetics, 5(3), 1997, pp. 171-174