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Results: 1-15 |
Results: 15
A HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER DIAPHANOUS GENE IS DISRUPTED IN A PATIENT WITH PREMATURE OVARIAN FAILURE - EVIDENCE FOR CONSERVED FUNCTION IN OOGENESIS AND IMPLICATIONS FOR HUMAN STERILITY
Authors: BIONE S SALA C MANZINI C ARRIGO G ZUFFARDI O BANFI S BORSANI G JONVEAUX P PHILIPPE C ZUCCOTTI M BALLABIO A TONIOLO D
Citation: S. Bione et al., A HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER DIAPHANOUS GENE IS DISRUPTED IN A PATIENT WITH PREMATURE OVARIAN FAILURE - EVIDENCE FOR CONSERVED FUNCTION IN OOGENESIS AND IMPLICATIONS FOR HUMAN STERILITY, American journal of human genetics, 62(3), 1998, pp. 533-541
X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE
Authors: MORA M CARTEGNI L DIBLASI C BARRESI R BIONE S DIBARLETTA MR MORANDI L MERLINI L NIGRO V POLITANO L DONATI MA CORNELIO F COBIANCHI F TONIOLO D
Citation: M. Mora et al., X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE, Annals of neurology, 42(2), 1997, pp. 249-253
THE HUMAN DIAPHANOUS GENE IS RESPONSIBLE FOR PREMATURE OVARIAN FAILURE (POF)
Authors: BIONE S SALA C MANZINI MC BANFI S ARRIGO G MENGUZZATO E BORSANI G TONIOLO D
Citation: S. Bione et al., THE HUMAN DIAPHANOUS GENE IS RESPONSIBLE FOR PREMATURE OVARIAN FAILURE (POF), American journal of human genetics, 61(4), 1997, pp. 49-49
THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES
Authors: DADAMO P FASSONE L GEDEON A JANSSEN EAM BIONE S BOLHUIS PA BARTH PG WILSON M HAAN E ORSTAVIK KH PATTON MA GREEN AJ ZAMMARCHI E DONATI MA TONIOLO D
Citation: P. Dadamo et al., THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES, American journal of human genetics, 61(4), 1997, pp. 862-867
A NOVEL X-LINKED GENE, G4.5. IS RESPONSIBLE FOR BARTH SYNDROME
Authors: BIONE S DADAMO P MAESTRINI E GEDEON AK BOLHUIS PA TONIOLO D
Citation: S. Bione et al., A NOVEL X-LINKED GENE, G4.5. IS RESPONSIBLE FOR BARTH SYNDROME, Nature genetics, 12(4), 1996, pp. 385-389
A FAMILY OF TRANSMEMBRANE PROTEINS WITH HOMOLOGY TO THE MET-HEPATOCYTE GROWTH-FACTOR RECEPTOR
Authors: MAESTRINI E TAMAGNONE L LONGATI P CREMONA O GULISANO M BIONE S TAMANINI F NEEL BG TONIOLO D COMOGLIO PM
Citation: E. Maestrini et al., A FAMILY OF TRANSMEMBRANE PROTEINS WITH HOMOLOGY TO THE MET-HEPATOCYTE GROWTH-FACTOR RECEPTOR, Proceedings of the National Academy of Sciences of the United Statesof America, 93(2), 1996, pp. 674-678
AN X-CHROMOSOME-LINKED GENE ENCODING A PROTEIN WITH CHARACTERISTICS OF A RHOGAP PREDOMINANTLY EXPRESSED HEMATOPOIETIC-CELLS
Authors: TRIBIOLI C DROETTO S BIONE S CESARENI G TORRISI MR LOTTI LV LANFRANCONE L TONIOLO D PELICCI P
Citation: C. Tribioli et al., AN X-CHROMOSOME-LINKED GENE ENCODING A PROTEIN WITH CHARACTERISTICS OF A RHOGAP PREDOMINANTLY EXPRESSED HEMATOPOIETIC-CELLS, Proceedings of the National Academy of Sciences of the United Statesof America, 93(2), 1996, pp. 695-699
SEQUENCE AND GENE CONTENT IN 52 KB INCLUDING AND CENTROMERIC TO THE G6PD GENE IN XQ28
Authors: ZOLLO M MAZZARELLA R BIONE S TONIOLO D SCHLESSINGER D DURSO M CHEN EY
Citation: M. Zollo et al., SEQUENCE AND GENE CONTENT IN 52 KB INCLUDING AND CENTROMERIC TO THE G6PD GENE IN XQ28, DNA sequence, 6(1), 1995, pp. 1-11
IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE
Authors: BIONE S SMALL K AKSMANOVIC VMA DURSO M CICCODICOLA A MERLINI L MORANDI L KRESS W YATES JRW WARREN ST TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE, Human molecular genetics, 4(10), 1995, pp. 1859-1863
A COMPARATIVE TRANSCRIPTIONAL MAP OF A REGION OF 250 KB ON THE HUMAN AND MOUSE X-CHROMOSOME BETWEEN THE G6PD AND THE FLN1 GENES
Authors: RIVELLA S TAMANINI F BIONE S MANCINI M HERMAN G CHATTERJEE A MAESTRINI E TONIOLO D
Citation: S. Rivella et al., A COMPARATIVE TRANSCRIPTIONAL MAP OF A REGION OF 250 KB ON THE HUMAN AND MOUSE X-CHROMOSOME BETWEEN THE G6PD AND THE FLN1 GENES, Genomics, 28(3), 1995, pp. 377-382
IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors: BIONE S MAESTRINI E RIVELLA S MANCINI M REGIS S ROMEO G TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY, Nature genetics, 8(4), 1994, pp. 323-327
ISOLATION OF NEW GENES IN DISTAL XQ28 - TRANSCRIPTIONAL MAP AND IDENTIFICATION OF A HUMAN HOMOLOG OF THE ARD1 N-ACETYL TRANSFERASE OF SACCHAROMYCES-CEREVISIAE
Authors: TRIBIOLI C MANCINI M PLASSART E BIONE S RIVELLA S SALA C TORRI G TONIOLO D
Citation: C. Tribioli et al., ISOLATION OF NEW GENES IN DISTAL XQ28 - TRANSCRIPTIONAL MAP AND IDENTIFICATION OF A HUMAN HOMOLOG OF THE ARD1 N-ACETYL TRANSFERASE OF SACCHAROMYCES-CEREVISIAE, Human molecular genetics, 3(7), 1994, pp. 1061-1067
IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28
Authors: RIVELLA S MAESTRINI E BIONE S TAMANINI F TRIBIOLI C MANCINI M SALA C LIBERGOLIS F TORRI G TONIOLO D
Citation: S. Rivella et al., IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28, Cytogenetics and cell genetics, 67(4), 1994, pp. 353-353
IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28
Authors: TONIOLO D MAESTRINI E BIONE S TAMANINI F MANCINI M SALA C RIVELLA S TORRI G TRIBIOLI C
Citation: D. Toniolo et al., IDENTIFICATION OF GENES AND CONSTRUCTION OF A TRANSCRIPTIONAL MAP IN XQ28, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 190-190
TRANSCRIPTIONAL ORGANIZATION OF A 450-KB REGION OF THE HUMAN X-CHROMOSOME IN XQ28
Authors: BIONE S TAMANINI F MAESTRINI E TRIBIOLI C POUSTKA A TORRI G RIVELLA S TONIOLO D
Citation: S. Bione et al., TRANSCRIPTIONAL ORGANIZATION OF A 450-KB REGION OF THE HUMAN X-CHROMOSOME IN XQ28, Proceedings of the National Academy of Sciences of the United Statesof America, 90(23), 1993, pp. 10977-10981
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