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Results: 1-13 |
Results: 13
CELL-SPECIFIC SURVIVAL MOTOR-NEURON GENE-EXPRESSION DURING HUMAN-DEVELOPMENT OF THE CENTRAL-NERVOUS-SYSTEM - IMPLICATIONS FOR THE PATHOGENESIS OF SPINAL MUSCULAR-ATROPHY
Authors: TIZZANO EF CABOT C BAIGET M
Citation: Ef. Tizzano et al., CELL-SPECIFIC SURVIVAL MOTOR-NEURON GENE-EXPRESSION DURING HUMAN-DEVELOPMENT OF THE CENTRAL-NERVOUS-SYSTEM - IMPLICATIONS FOR THE PATHOGENESIS OF SPINAL MUSCULAR-ATROPHY, The American journal of pathology, 153(2), 1998, pp. 355-361
CRAMPS AND MINIMAL EMG ABNORMALITIES AS PRECLINICAL MANIFESTATIONS OFSPINAL MUSCULAR-ATROPHY PATIENTS WITH HOMOZYGOUS DELETIONS OF THE SMNGENE
Authors: BUSSAGLIA E TIZZANO EF ILLA I CERVERA C BAIGET M
Citation: E. Bussaglia et al., CRAMPS AND MINIMAL EMG ABNORMALITIES AS PRECLINICAL MANIFESTATIONS OFSPINAL MUSCULAR-ATROPHY PATIENTS WITH HOMOZYGOUS DELETIONS OF THE SMNGENE, Neurology, 48(5), 1997, pp. 1443-1445
DELETION ANALYSIS OF THE SIMPLE TANDEM REPEAT LOCI PHYSICALLY LINKED TO THE SPINAL MUSCULAR-ATROPHY LOCUS
Authors: CAPON F LEVATO C BUSSAGLIA E LOCICERO S TIZZANO EF BAIGET M SILANI V PIZZUTI A NOVELLI G DALLAPICCOLA B
Citation: F. Capon et al., DELETION ANALYSIS OF THE SIMPLE TANDEM REPEAT LOCI PHYSICALLY LINKED TO THE SPINAL MUSCULAR-ATROPHY LOCUS, Human mutation, 7(3), 1996, pp. 198-201
INHIBITOR DEVELOPMENT IN HEMOPHILIA-A PATIENTS WITH INVERSION OF THE INTRON-22 OF THE FACTOR-VIII GENE
Authors: TIZZANO EF ALTISENT C DOMENECH M CORNET M TUSELL J BAIGET M
Citation: Ef. Tizzano et al., INHIBITOR DEVELOPMENT IN HEMOPHILIA-A PATIENTS WITH INVERSION OF THE INTRON-22 OF THE FACTOR-VIII GENE, Thrombosis and haemostasis, 76(1), 1996, pp. 125-126
INVERSION OF INTRON-22 IN ISOLATED CASES OF SEVERE HEMOPHILIA-A
Authors: TIZZANO EF DOMENECH M BAIGET M
Citation: Ef. Tizzano et al., INVERSION OF INTRON-22 IN ISOLATED CASES OF SEVERE HEMOPHILIA-A, Thrombosis and haemostasis, 73(1), 1995, pp. 6-9
FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY
Authors: ANTONARAKIS SE ROSSITER JP YOUNG M HORST J DEMOERLOOSE P SOMMER SS KETTERLING RP KAZAZIAN HH NEGRIER C VINCIGUERRA C GITSCHIER J GOOSSENS M GIRODON E GHANEM N PLASSA F LAVERGNE JM VIDAUD M COSTA JM LAURIAN Y LIN SW LIN SR SHEN MC LILLICRAP D TAYLOR SAM WINDSOR S VALLEIX SV NAFA K SULTAN Y DELPECH M VNENCAKJONES CL PHILLIPS JA LJUNG RCR KOUMBARELIS E GIALERAKI A MANDALAKI T JENKINS PV COLLINS PW PASI KJ GOODEVE A PEAKE I PRESTON FE SCHWARTZ M SCHEIBEL E INGERSLEV J COOPER DN MILLAR DS KAKKAR VV GIANNELLI F NAYLOR JA TIZZANO EF BAIGET M DOMENECH M ALTISENT C TUSELL J BENEYTO M LORENZO JI GAUCHER C MAZURIER C PEERLINCK K MATTHIJS G CASSIMAN JJ VERMYLEN J MORI PG ACQUILA M CAPRINO D INABA H
Citation: Se. Antonarakis et al., FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY, Blood, 86(6), 1995, pp. 2206-2212
CFTR EXPRESSION AND ORGAN DAMAGE IN CYSTIC-FIBROSIS
Authors: TIZZANO EF BUCHWALD M
Citation: Ef. Tizzano et M. Buchwald, CFTR EXPRESSION AND ORGAN DAMAGE IN CYSTIC-FIBROSIS, Annals of internal medicine, 123(4), 1995, pp. 305-308
A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES
Authors: BUSSAGLIA E CLERMONT O TIZZANO EF LEFEBVRE S BURGLEN L CRUAUD C COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1204-1204
REGIONAL EXPRESSION OF CFTR IN DEVELOPING HUMAN RESPIRATORY TISSUES
Authors: TIZZANO EF OBRODOVICH H CHITAYAT D BENICHOU JC BUCHWALD M
Citation: Ef. Tizzano et al., REGIONAL EXPRESSION OF CFTR IN DEVELOPING HUMAN RESPIRATORY TISSUES, American journal of respiratory cell and molecular biology, 10(4), 1994, pp. 355-362
INTRON-22 INVERSIONS AND HEMOPHILIA
Authors: TIZZANO EF ALTISENT C TUSELL J DOMENECH M BAIGET M
Citation: Ef. Tizzano et al., INTRON-22 INVERSIONS AND HEMOPHILIA, Lancet, 343(8900), 1994, pp. 792-792
INVERSIONS IN THE FACTOR-VIII GENE IN SPANISH HEMOPHILIA-A PATIENTS
Authors: TIZZANO EF DOMENECH M ALTISENT C TUSELL J BAIGET M
Citation: Ef. Tizzano et al., INVERSIONS IN THE FACTOR-VIII GENE IN SPANISH HEMOPHILIA-A PATIENTS, Blood, 83(12), 1994, pp. 3826-3826
DIFFERENTIAL CELLULAR EXPRESSION OF CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR IN HUMAN REPRODUCTIVE TISSUES - CLUES FOR THE INFERTILITY IN PATIENTS WITH CYSTIC-FIBROSIS
Authors: TIZZANO EF SILVER MM CHITAYAT D BENICHOU JC BUCHWALD M
Citation: Ef. Tizzano et al., DIFFERENTIAL CELLULAR EXPRESSION OF CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR IN HUMAN REPRODUCTIVE TISSUES - CLUES FOR THE INFERTILITY IN PATIENTS WITH CYSTIC-FIBROSIS, The American journal of pathology, 144(5), 1994, pp. 906-914
RECENT ADVANCES IN CYSTIC-FIBROSIS RESEARCH
Authors: TIZZANO EF BUCHWALD M
Citation: Ef. Tizzano et M. Buchwald, RECENT ADVANCES IN CYSTIC-FIBROSIS RESEARCH, The Journal of pediatrics, 122(6), 1993, pp. 985-988
Risultati: 1-13 |