AAAAAA

   
Results: 1-11 |
Results: 11
LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME
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
MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES
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
CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE
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
A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI
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
LINKAGE ANALYSIS OF FANCONI-ANEMIA IN ITALY AND MAPPING OF THE COMPLEMENTATION GROUP-A GENE
Authors: SAVOIA A PIEMONTESE MR SAVINO M ZATTERALE A PRONK J ARWERT F JOENJE H RAMENGHI U DAGNABRICARELLI F DALLAPICCOLA B ZELANTE L
Citation: A. Savoia et al., LINKAGE ANALYSIS OF FANCONI-ANEMIA IN ITALY AND MAPPING OF THE COMPLEMENTATION GROUP-A GENE, Human genetics, 99(1), 1997, pp. 93-97
DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS
Authors: CALVANO S MEMEO E PIEMONTESE MR MELCHIONDA S BISCEGLIA L GASPARINI P ZELANTE L
Citation: S. Calvano et al., DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS, Clinical genetics, 52(1), 1997, pp. 17-22
2 NEWBORNS WITH CHROMOSOME-4 IMBALANCES - DELETION 4Q33-]Q35 AND RINGR(4)(PTERQ35.2-QTER)
Authors: CALABRESE G GIANNOTTI A MINGARELLI R DIGILIO MC PIEMONTESE MR PALKA G
Citation: G. Calabrese et al., 2 NEWBORNS WITH CHROMOSOME-4 IMBALANCES - DELETION 4Q33-]Q35 AND RINGR(4)(PTERQ35.2-QTER), Clinical genetics, 51(4), 1997, pp. 264-267
POSITIONAL CLONING OF THE FANCONI-ANEMIA GROUP-A GENE
Authors: APOSTOLOU S WHITMORE SA CRAWFORD J LENNON G SUTHERLAND GR CALLEN DF IANZANO L SAVINO M DAPOLITO M NOTARANGELO A MEMEO E PIEMONTESE MR ZELANTE L SAVOIA A GIBSON RA TIPPING AJ MORGAN NV HASSOCK S JANSEN S DERAVEL TJ VANBERKEL C PRONK JC EASTON DF MATHEW CG LEVRAN O VERLANDER PC BATISH SD ERLICH T AUERBACH AD CLETONJANSEN AM MOERLAND EW CORNELISSE CJ DOGGETT NA DEAVEN LL MOYZIS RK
Citation: S. Apostolou et al., POSITIONAL CLONING OF THE FANCONI-ANEMIA GROUP-A GENE, Nature genetics, 14(3), 1996, pp. 324-328
SCREENING OF NEUROFIBROMATOSIS TYPE-1 GENE - IDENTIFICATION OF A LARGE DELETION AND OF AN INTRONIC VARIANT
Authors: GRIFA A PIEMONTESE MR MELCHIONDA S ORIGONE P ZELANTE L COVIELLO D FRATTA G DALLAPICCOLA B BALESTRAZZI P AJMAR F GASPARINI P
Citation: A. Grifa et al., SCREENING OF NEUROFIBROMATOSIS TYPE-1 GENE - IDENTIFICATION OF A LARGE DELETION AND OF AN INTRONIC VARIANT, Clinical genetics, 47(6), 1995, pp. 281-284
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN ALBANIA
Authors: BARBULLUSHI M MOKINI V CIKULI M THERESKA N PIEMONTESE MR ZELANTE L DALLAPICCOLA B
Citation: M. Barbullushi et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN ALBANIA, Journal of the American Society of Nephrology, 5(3), 1994, pp. 642-642
CYTOGENETIC AND MOLECULAR ANALYSIS OF TRISOMY-9 - CASE-REPORT AND REVIEW
Authors: ZELANTE L NOTARANGELO A CROCE AI PIEMONTESE MR GASPARINI P
Citation: L. Zelante et al., CYTOGENETIC AND MOLECULAR ANALYSIS OF TRISOMY-9 - CASE-REPORT AND REVIEW, Annales de genetique, 37(1), 1994, pp. 21-25
Risultati: 1-11 |