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Results: 1-13 |
Results: 13
ATAXIC GAIT AND MENTAL-RETARDATION WITH ABSENCE OF THE PATERNAL CHROMOSOME-8 AND AN IDIC(8)(P23.3) - IMPRINTING EFFECT OR NULLISOMY FOR DISTAL 8P GENES
Authors: PIANTANIDA M DELLAVECCHIA C FLORIDIA G GIGLIO S HOELLER H DORDI B DANESINO C SCHINZEL A ZUFFARDI O
Citation: M. Piantanida et al., ATAXIC GAIT AND MENTAL-RETARDATION WITH ABSENCE OF THE PATERNAL CHROMOSOME-8 AND AN IDIC(8)(P23.3) - IMPRINTING EFFECT OR NULLISOMY FOR DISTAL 8P GENES, Human genetics, 99(6), 1997, pp. 766-771
THE SAME MOLECULAR MECHANISM AT THE MATERNAL MEIOSIS-I PRODUCES MONOCENTRIC AND DICENTRIC 8P DUPLICATIONS
Authors: FLORIDIA G PIANTANIDA M MINELLI A DELLAVECCHIA C BONAGLIA C ROSSI E GIMELLI G CROCI G FRANCHI F GILGENKRANTZ S GRAMMATICO P DALPRA L WOOD S DANESINO C ZUFFARDI O
Citation: G. Floridia et al., THE SAME MOLECULAR MECHANISM AT THE MATERNAL MEIOSIS-I PRODUCES MONOCENTRIC AND DICENTRIC 8P DUPLICATIONS, American journal of human genetics, 58(4), 1996, pp. 785-796
COLOCALIZATION OF (TTAGGG)(N) TELOMERIC SEQUENCES AND RIBOSOMAL GENESIN ATLANTIC EELS
Authors: SALVADORI S DEIANA A ELISABETTA C FLORIDIA G ROSSI E ZUFFARDI O
Citation: S. Salvadori et al., COLOCALIZATION OF (TTAGGG)(N) TELOMERIC SEQUENCES AND RIBOSOMAL GENESIN ATLANTIC EELS, Chromosome research, 3(1), 1995, pp. 54-58
8P DUPLICATION REGION ASSOCIATED WITH AGENESIS HYPOPLASIA OF CORPUS-CALLOSUM
Authors: ZUFFARDI O FLORIDIA G PIANTANIDA M MINELLI A ROSSI E DALLAVECCHIA G WOOD S DANESINO C
Citation: O. Zuffardi et al., 8P DUPLICATION REGION ASSOCIATED WITH AGENESIS HYPOPLASIA OF CORPUS-CALLOSUM, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 164-164
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL
Authors: GENUARDI M BARDONI B FLORIDIA G CHIURAZZI P SCARANO G ZOLLINO M GARCEA N MARTININERI ME NERI G
Citation: M. Genuardi et al., DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL, Clinical genetics, 47(1), 1995, pp. 38-41
A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL
Authors: BARDONI B ZANARIA E GUIOLI S FLORIDIA G WORLEY KC TONINI G FERRANTE E CHIUMELLO G MCCABE ERB FRACCARO M ZUFFARDI O CAMERINO G
Citation: B. Bardoni et al., A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL, Nature genetics, 7(4), 1994, pp. 497-501
ORDER OF 6 LOCI AT 2Q24-Q31 AND ORIENTATION OF THE HOXD LOCUS
Authors: ROSSI E FAIELLA A ZEVIANI M LABEIT S FLORIDIA G BRUNELLI S CAMMARATA M BONCINELLI E ZUFFARDI O
Citation: E. Rossi et al., ORDER OF 6 LOCI AT 2Q24-Q31 AND ORIENTATION OF THE HOXD LOCUS, Genomics, 24(1), 1994, pp. 34-40
ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1)TO CHROMOSOME-1P32
Authors: GELLERA C VERDERIO E FLORIDIA G FINOCCHIARO G MONTERMINI L CAVADINI P ZUFFARDI O TARONI F
Citation: C. Gellera et al., ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1)TO CHROMOSOME-1P32, Genomics, 24(1), 1994, pp. 195-197
TRISOMY-8 SYNDROME OWING TO ISODICENTRIC 8P CHROMOSOMES - REGIONAL ASSIGNMENT OF A PRESUMPTIVE GENE INVOLVED IN CORPUS-CALLOSUM DEVELOPMENT
Authors: DIGILIO MC GIANNOTTI A FLORIDIA G UCCELLATORE F MINGARELLI R DANESINO C DALLAPICCOLA B ZUFFARDI O
Citation: Mc. Digilio et al., TRISOMY-8 SYNDROME OWING TO ISODICENTRIC 8P CHROMOSOMES - REGIONAL ASSIGNMENT OF A PRESUMPTIVE GENE INVOLVED IN CORPUS-CALLOSUM DEVELOPMENT, Journal of Medical Genetics, 31(3), 1994, pp. 238-241
D8S7 IS CONSISTENTLY DELETED IN INVERTED DUPLICATIONS OF THE SHORT ARM OF CHROMOSOME-8 (INV DUP 8P)
Authors: MINELLI A FLORIDIA G ROSSI E CLEMENTI M TENCONI R CAMURRI L BERNARDI F HOELLER H RE CP MARASCHIO P WOOD S ZUFFARDI O DANESINO C
Citation: A. Minelli et al., D8S7 IS CONSISTENTLY DELETED IN INVERTED DUPLICATIONS OF THE SHORT ARM OF CHROMOSOME-8 (INV DUP 8P), Human genetics, 92(4), 1993, pp. 391-396
FUNCTIONAL DISOMY OF XP22-PTER IN 3 MALES CARRYING A PORTION OF XP TRANSLOCATED TO YQ
Authors: BARDONI B FLORIDIA G GUIOLI S PEVERALI G ANICHINI C CISTERNINO M CASALONE R DANESINO C FRACCARO M ZUFFARDI O CAMERINO G
Citation: B. Bardoni et al., FUNCTIONAL DISOMY OF XP22-PTER IN 3 MALES CARRYING A PORTION OF XP TRANSLOCATED TO YQ, Human genetics, 91(4), 1993, pp. 333-338
TRISOMY 10QTER CONFIRMED BY IN-SITU HYBRIDIZATION
Authors: BRISCIOLI V FLORIDIA G ROSSI E SELICORNI A LALATTA F ZUFFARDI O
Citation: V. Briscioli et al., TRISOMY 10QTER CONFIRMED BY IN-SITU HYBRIDIZATION, Journal of Medical Genetics, 30(7), 1993, pp. 601-603
TYPES, STABILITY, AND PHENOTYPIC CONSEQUENCES OF CHROMOSOME REARRANGEMENTS LEADING TO INTERSTITIAL TELOMERIC SEQUENCES
Authors: ROSSI E FLORIDIA G CASALI M DANESINO C CHIUMELLO G BERNARDI F MAGNANI I PAPI L MURA M ZUFFARDI O
Citation: E. Rossi et al., TYPES, STABILITY, AND PHENOTYPIC CONSEQUENCES OF CHROMOSOME REARRANGEMENTS LEADING TO INTERSTITIAL TELOMERIC SEQUENCES, Journal of Medical Genetics, 30(11), 1993, pp. 926-931
Risultati: 1-13 |