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Results:
1-18
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Results: 18
Authors:
GOMEZLIRA M
PERUSI C
MOTTES M
PIGNATTI PF
MANFREDI M
RIZZUTO N
SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998), Human genetics, 102(5), 1998, pp. 602-602
Authors:
GOMEZLIRA M
PERUSI C
MOTTES M
PIGNATTI PF
MANFREDI M
RIZZUTO N
SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION, Human genetics, 102(4), 1998, pp. 459-463
Authors:
FLOREANI A
MOLARO M
MOTTES M
SANGALLI A
BARAGIOTTA A
NACCARATO R
CLEMENTI M
Citation: A. Floreani et al., AUTOSOMAL-DOMINANT BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) UNLINKED TO 18Q21 LOCUS - IS IT A NEW ENTITY, Hepatology, 28(4), 1998, pp. 1031-1031
Authors:
GOMEZLIRA M
PERUSI C
MOTTES M
PIGNATTI PF
RIZZUTO N
GATTI R
SALVIATI A
Citation: M. Gomezlira et al., SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE, American journal of medical genetics, 75(3), 1998, pp. 330-333
Authors:
PERUSI C
GOMEZLIRA M
MOTTES M
PIGNATTI PF
RIZZUTO N
SALVIATI A
Citation: C. Perusi et al., A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE, Molecular and cellular probes, 11(6), 1997, pp. 449-451
Authors:
ZOLEZZI F
VALLI M
CLEMENTI M
MAMMI I
CETTA G
PIGNATTI PF
MOTTES M
Citation: F. Zolezzi et al., MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY, American journal of medical genetics, 71(3), 1997, pp. 366-370
Authors:
MOTTES M
RIGATELLI F
LISI V
BRAGA V
ADAMI S
PIGNATTI PF
Citation: M. Mottes et al., ALLELIC VARIANTS OF HUMAN CALCITONIN RECEPTOR GENE (CALCR) IN THE ITALIAN POPULATION AND IN OSTEOPOROTIC PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1193-1193
Authors:
COHENSOLAL L
ZOLEZZI F
PIGNATTI PF
MOTTES M
Citation: L. Cohensolal et al., INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE, Molecular and cellular probes, 10(3), 1996, pp. 219-225
Authors:
DYNE KM
VALLI M
FORLINO A
MOTTES M
KRESSE H
CETTA G
Citation: Km. Dyne et al., DEFICIENT EXPRESSION OF THE SMALL PROTEOGLYCAN DECORIN IN A CASE OF SEVERE LETHAL OSTEOGENESIS IMPERFECTA, American journal of medical genetics, 63(1), 1996, pp. 161-166
Authors:
ANTONIAZZI F
BERTOLDO F
MOTTES M
VALLI M
SIRPRESI S
ZAMBONI G
VALENTINI R
TATO L
Citation: F. Antoniazzi et al., GROWTH-HORMONE TREATMENT IN OSTEOGENESIS IMPERFECTA WITH QUANTITATIVEDEFECT OF TYPE-I COLLAGEN-SYNTHESIS, The Journal of pediatrics, 129(3), 1996, pp. 432-439
Authors:
ZOLEZZI F
FORLINO A
MOTTES M
VALLI M
SENSI A
CALZOLARI E
PIGNATTI PF
CETTA G
Citation: F. Zolezzi et al., A 931-]C TRANSITION IN ONE COL1A2 ALLELE CAUSES EXON-16 SKIPPING IN PRO-ALPHA-2(I) MESSENGER-RNA AND PRODUCES MODERATELY SEVERE OI(2T), Human mutation, 6(3), 1995, pp. 268-271
Authors:
GOMEZLIRA M
SANGALLI A
MOTTES M
PERUSI C
PIGNATTI PF
RIZZUTO N
SALVIATI A
Citation: M. Gomezlira et al., A COMMON BETA-HEXOSAMINIDASE GENE MUTATION IN ADULT SANDHOFF DISEASE PATIENTS, Human genetics, 96(4), 1995, pp. 417-422
Authors:
FORLINO A
ZOLEZZI F
VALLI M
PIGNATTI PF
CETTA G
BRUNELLI PC
MOTTES M
Citation: A. Forlino et al., SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX, Human molecular genetics, 3(12), 1994, pp. 2201-2206
Authors:
MOTTES M
SANGALLI A
VALLI M
FORLINO A
GOMEZLIRA M
ANTONIAZZI F
CONSTANTINOUDELTAS CD
CETTA G
PIGNATTI PF
Citation: M. Mottes et al., A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA, Human genetics, 93(6), 1994, pp. 681-687
Authors:
GOMEZLIRA M
SANGALLI A
PIGNATTI PF
DIGILIO MC
GIANNOTTI A
CARNEVALE E
MOTTES M
Citation: M. Gomezlira et al., DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION, Journal of Medical Genetics, 31(12), 1994, pp. 965-968
Authors:
COHENSOLAL L
ZYLBERBERG L
SANGALLI A
LIRA MG
MOTTES M
Citation: L. Cohensolal et al., SUBSTITUTION OF AN ASPARTIC-ACID FOR GLYCINE-700 IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A RECURRENT LETHAL TYPE-II OSTEOGENESIS IMPERFECTA DRAMATICALLY AFFECTS THE MINERALIZATION OF BONE, The Journal of biological chemistry, 269(20), 1994, pp. 14751-14758
Authors:
MOTTES M
LIRA MMG
VALLI M
SCARANO G
LONARDO F
FORLINO A
CETTA G
PIGNATTI PF
Citation: M. Mottes et al., PATERNAL MOSAICISM FOR A COL1A1 DOMINANT MUTATION (ALPHA-1 SER-415) CAUSES RECURRENT OSTEOGENESIS IMPERFECTA, Human mutation, 2(3), 1993, pp. 196-204
Authors:
VALLI M
ZOLEZZI F
MOTTES M
ANTONIAZZI F
STANZIAL F
TENNI R
PIGNATTI P
CETTA G
Citation: M. Valli et al., GLY85 TO VAL SUBSTITUTION IN PRO-ALPHA-1(I) CHAIN CAUSES MILD OSTEOGENESIS IMPERFECTA AND INTRODUCES A SUSCEPTIBILITY TO PROTEASE DIGESTION, European journal of biochemistry, 217(1), 1993, pp. 77-82
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