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Results: 1-25 | 26-48
Results: 1-25/48
A BIRTH IN NON-MOSAIC KLINEFELTERS-SYNDROME AFTER TESTICULAR FINE-NEEDLE ASPIRATION, INTRACYTOPLASMIC SPERM INJECTION AND PREIMPLANTATION GENETIC DIAGNOSIS
Authors: REUBINOFF BE ABELIOVICH D WERNER M SCHENKER JG SAFRAN A LEWIN A
Citation: Be. Reubinoff et al., A BIRTH IN NON-MOSAIC KLINEFELTERS-SYNDROME AFTER TESTICULAR FINE-NEEDLE ASPIRATION, INTRACYTOPLASMIC SPERM INJECTION AND PREIMPLANTATION GENETIC DIAGNOSIS, Human reproduction (Oxford. Print), 13(7), 1998, pp. 1887-1892
THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13
Authors: ROBINSON WP DUTLY F NICHOLLS RD BERNASCONI F PENAHERRERA M MICHAELIS RC ABELIOVICH D SCHINZEL AA
Citation: Wp. Robinson et al., THE MECHANISMS INVOLVED IN FORMATION OF DELETIONS AND DUPLICATIONS OF15Q11-Q13, Journal of Medical Genetics, 35(2), 1998, pp. 130-136
DOUBLE HETEROZYGOTES FOR THE ASHKENAZI FOUNDER MUTATIONS IN BRCA1 ANDBRCA2 GENES
Authors: FRIEDMAN E BRUCHIM RB KRUGLIKOVA A RISEL S LEVYLAHAD E HALLE D BARON E GERSHONIBARUCH R DAGAN E KEPTEN I PERETZ T LERER I WIENBERG N SHUSHAN A ABELIOVICH D
Citation: E. Friedman et al., DOUBLE HETEROZYGOTES FOR THE ASHKENAZI FOUNDER MUTATIONS IN BRCA1 ANDBRCA2 GENES, American journal of human genetics, 63(4), 1998, pp. 1224-1227
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
THE 8765DELAG MUTATION IN BRCA2 IS COMMON AMONG JEWS OF YEMENITE EXTRACTION
Authors: LERER I WANG TL PERETZ T SAGI M KADURI L ORRURTREGER A STADLER J GUTMAN H ABELIOVICH D
Citation: I. Lerer et al., THE 8765DELAG MUTATION IN BRCA2 IS COMMON AMONG JEWS OF YEMENITE EXTRACTION, American journal of human genetics, 63(1), 1998, pp. 272-274
TRANSIENT NEONATAL DIABETES-MELLITUS IN A CHILD WITH INVDUP(6)(Q22Q23) OF PATERNAL ORIGIN
Authors: ARTHUR EI ZLOTOGORA J LERER I DAGAN J MARKS K ABELIOVICH D
Citation: Ei. Arthur et al., TRANSIENT NEONATAL DIABETES-MELLITUS IN A CHILD WITH INVDUP(6)(Q22Q23) OF PATERNAL ORIGIN, European journal of human genetics, 5(6), 1997, pp. 417-419
SPORADIC PHEOCHROMOCYTOMAS ARE RARELY ASSOCIATED WITH GERMLINE MUTATIONS IN THE VON-HIPPEL-LINDAU AND RET GENES
Authors: BAR M FRIEDMAN E JAKOBOVITZ O LEIBOWITZ G LERER I ABELIOVICH D GROSS DJ
Citation: M. Bar et al., SPORADIC PHEOCHROMOCYTOMAS ARE RARELY ASSOCIATED WITH GERMLINE MUTATIONS IN THE VON-HIPPEL-LINDAU AND RET GENES, Clinical endocrinology, 47(6), 1997, pp. 707-712
INTRACYTOPLASMIC SPERM INJECTION COMBINED WITH PREIMPLANTATION GENETIC DIAGNOSIS FOR THE PREVENTION OF RECURRENT GESTATIONAL TROPHOBLASTIC DISEASE
Authors: REUBINOFF BE LEWIN A VERNER M SAFRAN A SCHENKER JG ABELIOVICH D
Citation: Be. Reubinoff et al., INTRACYTOPLASMIC SPERM INJECTION COMBINED WITH PREIMPLANTATION GENETIC DIAGNOSIS FOR THE PREVENTION OF RECURRENT GESTATIONAL TROPHOBLASTIC DISEASE, Human reproduction, 12(4), 1997, pp. 805-808
TRISOMY-2 - CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINEGROWTH-RETARDATION
Authors: ARIEL I LERER I YAGEL S COHEN R BENNERIAH Z ABELIOVICH D
Citation: I. Ariel et al., TRISOMY-2 - CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINEGROWTH-RETARDATION, Prenatal diagnosis, 17(2), 1997, pp. 180-183
BRCA1 MUTATIONS IN WOMEN WITH OVARIAN-CANCER
Authors: SHUSHAN A ABELIOVICH D PERETZ T WEINBERG N PALTIEL O
Citation: A. Shushan et al., BRCA1 MUTATIONS IN WOMEN WITH OVARIAN-CANCER, JAMA, the journal of the American Medical Association, 277(12), 1997, pp. 963-963
THE FOUNDER MUTATIONS 185DELAG AND 5382INSC IN BRCA1 AND 6174DELT IN BRCA2 APPEAR IN 60-PERCENT OF OVARIAN-CANCER AND 30-PERCENT OF EARLY-ONSET BREAST-CANCER PATIENTS AMONG ASHKENAZI WOMEN
Authors: ABELIOVICH D KADURI L LERER I WEINBERG N AMIR G SAGI M ZLOTOGORA J HECHING N PERETZ T
Citation: D. Abeliovich et al., THE FOUNDER MUTATIONS 185DELAG AND 5382INSC IN BRCA1 AND 6174DELT IN BRCA2 APPEAR IN 60-PERCENT OF OVARIAN-CANCER AND 30-PERCENT OF EARLY-ONSET BREAST-CANCER PATIENTS AMONG ASHKENAZI WOMEN, American journal of human genetics, 60(3), 1997, pp. 505-514
RENAL PATHOLOGY IN WAGR SYNDROME
Authors: ARIEL I ABELIOVICH D BARZIV J HOCHBERG A
Citation: I. Ariel et al., RENAL PATHOLOGY IN WAGR SYNDROME, PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 16(6), 1996, pp. 1015-1022
THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI JEWISH INDIVIDUALS (VOL 11, PG 198, 1995)
Authors: STRUEWING JP ABELIOVICH D PERETZ T AVISHAI N KABACK MM COLLINS FS BRODY LC
Citation: Jp. Struewing et al., THE CARRIER FREQUENCY OF THE BRCA1 185DELAG MUTATION IS APPROXIMATELY1 PERCENT IN ASHKENAZI JEWISH INDIVIDUALS (VOL 11, PG 198, 1995), Nature genetics, 12(1), 1996, pp. 110-110
CYSTIC-FIBROSIS HETEROZYGOTE SCREENING IN THE ORTHODOX COMMUNITY OF ASHKENAZI JEWS - THE DOR-YESHARIM APPROACH AND HETEROZYGOTE FREQUENCY
Authors: ABELIOVICH D QUINT A WEINBERG N VERCHEZON G LERER I EKSTEIN J RUBINSTEIN E
Citation: D. Abeliovich et al., CYSTIC-FIBROSIS HETEROZYGOTE SCREENING IN THE ORTHODOX COMMUNITY OF ASHKENAZI JEWS - THE DOR-YESHARIM APPROACH AND HETEROZYGOTE FREQUENCY, European journal of human genetics, 4(6), 1996, pp. 338-341
MACHADO-JOSEPH DISEASE - CORRELATION BETWEEN THE CLINICAL-FEATURES, THE CAG REPEAT LENGTH AND HOMOZYGOSITY FOR THE MUTATION
Authors: LERER I MERIMS D ABELIOVICH D ZLOTOGORA J GADOTH N
Citation: I. Lerer et al., MACHADO-JOSEPH DISEASE - CORRELATION BETWEEN THE CLINICAL-FEATURES, THE CAG REPEAT LENGTH AND HOMOZYGOSITY FOR THE MUTATION, European journal of human genetics, 4(1), 1996, pp. 3-7
DUP(10Q) LACKING ALPHA-SATELLITE DNA IN BONE-MARROW CELLS OF A PATIENT WITH ACUTE MYELOID-LEUKEMIA
Authors: ABELIOVICH D YEHUDA O BENNERIAH S KAPELUSHNIK Y BENYEHUDA D
Citation: D. Abeliovich et al., DUP(10Q) LACKING ALPHA-SATELLITE DNA IN BONE-MARROW CELLS OF A PATIENT WITH ACUTE MYELOID-LEUKEMIA, Cancer genetics and cytogenetics, 89(1), 1996, pp. 1-6
PREDOMINANT 45,X,-Y KARYOTYPE IN DONOR CELLS AFTER ALLOGENEIC BMT - CYTOGENETIC AND MOLECULAR ANALYSIS
Authors: ABELIOVICH D YEHUDA O NAGLER A LERER I BENNERIAH S AMAR A OR R
Citation: D. Abeliovich et al., PREDOMINANT 45,X,-Y KARYOTYPE IN DONOR CELLS AFTER ALLOGENEIC BMT - CYTOGENETIC AND MOLECULAR ANALYSIS, Cancer genetics and cytogenetics, 86(1), 1996, pp. 1-7
T(15-21)(Q15-Q22.1)PAT RESULTING IN PARTIAL TRISOMY AND PARTIAL MONOSOMY OF CHROMOSOME-15 AND CHROMOSOME-21 IN 2 OFFSPRING
Authors: ABELIOVICH D DAGAN J LERER I SILBERSTEIN S KATZNELSON MBM FRYDMAN M
Citation: D. Abeliovich et al., T(15-21)(Q15-Q22.1)PAT RESULTING IN PARTIAL TRISOMY AND PARTIAL MONOSOMY OF CHROMOSOME-15 AND CHROMOSOME-21 IN 2 OFFSPRING, American journal of medical genetics, 66(1), 1996, pp. 45-51
COMPARISON OF PHENOTYPE IN UNIPARENTAL DISOMY AND DELETION PRADER-WILLI-SYNDROME - SEX-SPECIFIC DIFFERENCES
Authors: MITCHELL J SCHINZEL A LANGLOIS S GILLESSENKAESBACH G SCHUFFENHAUER S MICHAELIS R ABELIOVICH D LERER I CHRISTIAN S GUITART M MCFADDEN DE ROBINSON WP
Citation: J. Mitchell et al., COMPARISON OF PHENOTYPE IN UNIPARENTAL DISOMY AND DELETION PRADER-WILLI-SYNDROME - SEX-SPECIFIC DIFFERENCES, American journal of medical genetics, 65(2), 1996, pp. 133-136
THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15
Authors: ROBINSON WP LANGLOIS S BERNASCONI F CLARK S CHRISTIAN S LEDBETTER DH GILLESSENKAESBACH G HORSTHEMKE B LERER I ABELIOVICH D MICHAELIS R SCHUFFENHAUER S SCHINZEL AA
Citation: Wp. Robinson et al., THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15, American journal of medical genetics, 64(4), 1996, pp. 2-2
CLONING OF CANDIDATE GENES FOR X-LINKED MENTAL-RETARDATION BY USE OF CHROMOSOME-ABERRATIONS
Authors: VANDERMAAREL S SCHOLTEN I WEGHUIS DO HUBER I ROHME D GILGENKRANTZ S KERE J FRYNS JP ABELIOVICH D SMITS A CREMERS F ROPERS HH
Citation: S. Vandermaarel et al., CLONING OF CANDIDATE GENES FOR X-LINKED MENTAL-RETARDATION BY USE OF CHROMOSOME-ABERRATIONS, American journal of medical genetics, 64(1), 1996, pp. 19-19
LOCALIZATION OF 2 X-LINKED MENTAL-RETARDATION (XLMR) GENES TO XP-MRX37 GENE AT XP22.31-P22.32 AND A PUTATIVE MRX GENE ON XP22.11-P22.2
Authors: BARDAVID S LERER I SARFATY CK KOHAN ZG MEINER V ZLOTOGORA J ABELIOVICH D
Citation: S. Bardavid et al., LOCALIZATION OF 2 X-LINKED MENTAL-RETARDATION (XLMR) GENES TO XP-MRX37 GENE AT XP22.31-P22.32 AND A PUTATIVE MRX GENE ON XP22.11-P22.2, American journal of medical genetics, 64(1), 1996, pp. 83-88
A (R80Q) MUTATION IN 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-3 GENEAMONG ARABS OF ISRAEL IS ASSOCIATED WITH PSEUDOHERMAPHRODITISM IN MALES AND NORMAL ASYMPTOMATIC FEMALES
Authors: ROSLER A SILVERSTEIN S ABELIOVICH D
Citation: A. Rosler et al., A (R80Q) MUTATION IN 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-3 GENEAMONG ARABS OF ISRAEL IS ASSOCIATED WITH PSEUDOHERMAPHRODITISM IN MALES AND NORMAL ASYMPTOMATIC FEMALES, The Journal of clinical endocrinology and metabolism, 81(5), 1996, pp. 1827-1831
FAMILIAL PHEOCHROMOCYTOMA ASSOCIATED WITH A NOVEL MUTATION IN THE VONHIPPEL-LINDAU GENE
Authors: GROSS DJ AVISHAI N MEINER V FILON D ZBAR B ABELIOVICH D
Citation: Dj. Gross et al., FAMILIAL PHEOCHROMOCYTOMA ASSOCIATED WITH A NOVEL MUTATION IN THE VONHIPPEL-LINDAU GENE, The Journal of clinical endocrinology and metabolism, 81(1), 1996, pp. 147-149
MICROSATELLITE INSTABILITY AND P53 MUTATIONS IN THERAPY-RELATED LEUKEMIA SUGGEST MUTATOR PHENOTYPE
Authors: BENYEHUDA D KRICHEVSKY S CASPI O RUND D POLLIACK A ABELIOVICH D ZELIG O YAHALOM V PALTIEL O OR R PERETZ T BENNERIAH S YEHUDA O RACHMILEWITZ EA
Citation: D. Benyehuda et al., MICROSATELLITE INSTABILITY AND P53 MUTATIONS IN THERAPY-RELATED LEUKEMIA SUGGEST MUTATOR PHENOTYPE, Blood, 88(11), 1996, pp. 4296-4303
Risultati: 1-25 | 26-48