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Results: 1-25 | 26-37
Results: 1-25/37
MUTATIONS IN GDI1 ARE RESPONSIBLE FOR X-LINKED NONSPECIFIC MENTAL-RETARDATION (VOL 19, PG 134, 1998)
Authors: DADAMO P MENEGON A LONIGRO C GRASSO M GULISANO M TAMANINI F BIENVENU T GEDEON AK OOSTRA B WU SK TANDON A VALTORTA F BALCH WE CHELLY J TONIOLO D
Citation: P. Dadamo et al., MUTATIONS IN GDI1 ARE RESPONSIBLE FOR X-LINKED NONSPECIFIC MENTAL-RETARDATION (VOL 19, PG 134, 1998), Nature genetics, 19(3), 1998, pp. 303-303
MUTATIONS IN GDI1 ARE RESPONSIBLE FOR X-LINKED NONSPECIFIC MENTAL-RETARDATION
Authors: DADAMO P MENEGON A LONIGRO C GRASSO M GULISANO M TAMANINI F BIENVENU T GEDEON AK OOSTRA B WU SK TANDON A VALTORTA F BALCH WE CHELLY J TONIOLO D
Citation: P. Dadamo et al., MUTATIONS IN GDI1 ARE RESPONSIBLE FOR X-LINKED NONSPECIFIC MENTAL-RETARDATION, Nature genetics, 19(2), 1998, pp. 134-139
X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME
Authors: ORSTAVIK KH ORSTAVIK RE NAUMOVA AK DADAMO P BOLHUIS PA BARTH PG TONIOLO D
Citation: Kh. Orstavik et al., X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME, European journal of human genetics, 6, 1998, pp. 1064-1064
NONSPECIFIC X-LINKED SEMIDOMINANT MENTAL-RETARDATION BY MUTATIONS IN A RAB GDP-DISSOCIATION INHIBITOR
Authors: BIENVENU T DESPORTES V SAINTMARTIN A MCDONELL N BILLUART P CARRIE A VINET MC COUVERT P TONIOLO D ROPERS HH MORAINE C VANBOKHOVEN H FRYNS JP KAHN A BELDJORD C CHELLY J
Citation: T. Bienvenu et al., NONSPECIFIC X-LINKED SEMIDOMINANT MENTAL-RETARDATION BY MUTATIONS IN A RAB GDP-DISSOCIATION INHIBITOR, Human molecular genetics (Print), 7(8), 1998, pp. 1311-1315
IMMUNOCYTOCHEMICAL DETECTION OF EMERIN WITHIN THE NUCLEAR MATRIX
Authors: SQUARZONI S SABATELLI P OGNIBENE A TONIOLO D CARTEGNI L COBIANCHI F PETRINI S MERLINI L MARALDI NM
Citation: S. Squarzoni et al., IMMUNOCYTOCHEMICAL DETECTION OF EMERIN WITHIN THE NUCLEAR MATRIX, Neuromuscular disorders, 8(5), 1998, pp. 338-344
ORAL EXFOLIATIVE CYTOLOGY FOR THE NONINVASIVE DIAGNOSIS IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY PATIENTS AND CARRIERS
Authors: SABATELLI P SQUARZONI S PETRINI S CAPANNI C OGNIBENE A CARTEGNI L COBIANCHI F MERLINI L TONIOLO D MARALDI NM
Citation: P. Sabatelli et al., ORAL EXFOLIATIVE CYTOLOGY FOR THE NONINVASIVE DIAGNOSIS IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY PATIENTS AND CARRIERS, Neuromuscular disorders, 8(2), 1998, pp. 67-71
ULTRASTRUCTURAL ABNORMALITY OF SARCOLEMMAL NUCLEI IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY (EDMD)
Authors: FIDZIANSKA A TONIOLO D HAUSMANOWAPETRUSEWICZ I
Citation: A. Fidzianska et al., ULTRASTRUCTURAL ABNORMALITY OF SARCOLEMMAL NUCLEI IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY (EDMD), Journal of the neurological sciences, 159(1), 1998, pp. 88-93
CLINICAL PRESENTATION AND GENETIC LOCALIZATION OF A NEW FORM OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY
Authors: DUBOC D BONNE G BECANE HM DIBARLETTA MR VARNOUS S ELHADI H URTIZBEREA JA TONIOLO D FARDEAU M SCHWARTZ K
Citation: D. Duboc et al., CLINICAL PRESENTATION AND GENETIC LOCALIZATION OF A NEW FORM OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY, Circulation, 98(17), 1998, pp. 1552-1552
X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME
Authors: ORSTAVIK KH ORSTAVIK RE NAUMOVA AK DADAMO P GEDEON A BOLHUIS PA BARTH PG TONIOLO D
Citation: Kh. Orstavik et al., X-CHROMOSOME INACTIVATION IN CARRIERS OF BARTH-SYNDROME, American journal of human genetics, 63(5), 1998, pp. 1457-1463
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
HEART-SPECIFIC LOCALIZATION OF EMERIN - NEW INSIGHTS INTO EMERY-DREIFUSS-MUSCULAR-DYSTROPHY
Authors: CARTEGNI L DIBARLETTA MR BARRESI R SQUARZONI S SABATELLI P MARALDI N MORA M DIBLASI C CORNELIO F MERLINI L VILLA A COBIANCHI F TONIOLO D
Citation: L. Cartegni et al., HEART-SPECIFIC LOCALIZATION OF EMERIN - NEW INSIGHTS INTO EMERY-DREIFUSS-MUSCULAR-DYSTROPHY, Human molecular genetics, 6(13), 1997, pp. 2257-2264
11 X-CHROMOSOME BREAKPOINTS ASSOCIATED WITH PREMATURE OVARIAN FAILURE(POF) MAP TO A 15-MB YAC CONTIG SPANNING XQ21
Authors: SALA C ARRIGO G TORRI G MARTINAZZI F RIVA P LARIZZA L PHILIPPE C JONVEAUX P SLOAN F LABELLA T TONIOLO D
Citation: C. Sala et al., 11 X-CHROMOSOME BREAKPOINTS ASSOCIATED WITH PREMATURE OVARIAN FAILURE(POF) MAP TO A 15-MB YAC CONTIG SPANNING XQ21, Genomics, 40(1), 1997, pp. 123-131
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
X-LINKED SEVERE MENTAL-RETARDATION AND A PROGRESSIVE NEUROLOGICAL DISORDER IN A BELGIAN FAMILY - CLINICAL AND GENETIC-STUDIES
Authors: CLAES S DEVRIENDT K DADAMO P MEIRELEIRE J RAEYMAEKERS P TONIOLO D CASSIMAN JJ FRYNS JP
Citation: S. Claes et al., X-LINKED SEVERE MENTAL-RETARDATION AND A PROGRESSIVE NEUROLOGICAL DISORDER IN A BELGIAN FAMILY - CLINICAL AND GENETIC-STUDIES, Clinical genetics, 52(3), 1997, pp. 155-161
GDI IS RESPONSIBLE FOR X-LINKED MENTAL-RETARDATION
Authors: DADAMO P GULISANO M OOSTRA BA CHELLY J TONIOLO D
Citation: P. Dadamo et al., GDI IS RESPONSIBLE FOR X-LINKED MENTAL-RETARDATION, American journal of human genetics, 61(4), 1997, pp. 45-45
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
SELECTION AND FINE MAPPING OF CHROMOSOME-SPECIFIC CDNAS - APPLICATIONTO HUMAN-CHROMOSOME-1
Authors: MANCINI M SALA C RIVELLA S TONIOLO D
Citation: M. Mancini et al., SELECTION AND FINE MAPPING OF CHROMOSOME-SPECIFIC CDNAS - APPLICATIONTO HUMAN-CHROMOSOME-1, Genomics, 38(2), 1996, pp. 149-154
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
FISH CHARACTERIZATION OF THE XQ21 BREAKPOINT IN A TRANSLOCATION CARRIER WITH PREMATURE OVARIAN FAILURE
Authors: RIVA P MAGNANI I CONTI AMF GELLI D SALA C TONIOLO D LARIZZA L
Citation: P. Riva et al., FISH CHARACTERIZATION OF THE XQ21 BREAKPOINT IN A TRANSLOCATION CARRIER WITH PREMATURE OVARIAN FAILURE, Clinical genetics, 50(4), 1996, pp. 267-269
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
Risultati: 1-25 | 26-37