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Results: 1-25 | 26-29
Results: 1-25/29
NOVEL ATP7B MUTATIONS CAUSING WILSON-DISEASE IN SEVERAL ISRAELI ETHNIC-GROUPS
Authors: KALINSKY H FUNES A ZELDIN A PELOR Y KOROSTISHEVSKY M GERSHONIBARUCH R FARRER LA BONNETAMIR B
Citation: H. Kalinsky et al., NOVEL ATP7B MUTATIONS CAUSING WILSON-DISEASE IN SEVERAL ISRAELI ETHNIC-GROUPS, Human mutation, 11(2), 1998, pp. 145-151
THE 185DELAG BRCA1 MUTATION ORIGINATED BEFORE THE DISPERSION OF JEWS IN THE DIASPORA AND IS NOT LIMITED TO ASHKENAZIM
Authors: BARSADE RB KRUGLIKOVA A MODAN B GAK E HIRSHYECHEZKEL G THEODOR L NOVIKOV I GERSHONIBARUCH R RISEL S PAPA MZ BENBARUCH G FRIEDMAN E
Citation: Rb. Barsade et al., THE 185DELAG BRCA1 MUTATION ORIGINATED BEFORE THE DISPERSION OF JEWS IN THE DIASPORA AND IS NOT LIMITED TO ASHKENAZIM, Human molecular genetics, 7(5), 1998, pp. 801-805
CONGENITAL DIABETES IN AN INFANT WITH TRISOMY-21
Authors: SHEHADEH N GERSHONIBARUCH R ETZIONI A
Citation: N. Shehadeh et al., CONGENITAL DIABETES IN AN INFANT WITH TRISOMY-21, Journal of pediatric endocrinology & metabolism, 11(4), 1998, pp. 575-576
LEUKOCYTE ADHESION DEFICIENCY TYPE-II - LONG-TERM FOLLOW-UP
Authors: ETZIONI A GERSHONIBARUCH R POLLACK S SHEHADEH N
Citation: A. Etzioni et al., LEUKOCYTE ADHESION DEFICIENCY TYPE-II - LONG-TERM FOLLOW-UP, Journal of allergy and clinical immunology, 102(2), 1998, pp. 323-324
LEUKOCYTE ADHESION DEFICIENCY TYPE-II IS A GENERALIZED DEFECT OF DE-NOVO GDP-FUCOSE BIOSYNTHESIS - ENDOTHELIAL-CELL FUCOSYLATION IS NOT REQUIRED FOR NEUTROPHIL ROLLING ON HUMAN NONLYMPHOID ENDOTHELIUM
Authors: KARSAN A CORNEJO CJ WINN RK SCHWARTZ BR WAY W LANNIR N GERSHONIBARUCH R ETZIONI A OCHS HD HARLAN JM
Citation: A. Karsan et al., LEUKOCYTE ADHESION DEFICIENCY TYPE-II IS A GENERALIZED DEFECT OF DE-NOVO GDP-FUCOSE BIOSYNTHESIS - ENDOTHELIAL-CELL FUCOSYLATION IS NOT REQUIRED FOR NEUTROPHIL ROLLING ON HUMAN NONLYMPHOID ENDOTHELIUM, The Journal of clinical investigation, 101(11), 1998, pp. 2438-2445
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
HAPLOTYPE AND PHENOTYPE ANALYSIS OF 9 RECURRENT BRCA2 MUTATIONS IN 111 FAMILIES - RESULTS OF AN INTERNATIONAL STUDY
Authors: NEUHAUSEN SL GODWIN AK GERSHONIBARUCH R SCHUBERT E GARBER J STOPPALYONNET D OLAH E CSOKAY B SEROVA O LALLOO F OSORIO A STRATTON M OFFIT K BOYD J CALIGO MA SCOTT RJ SCHOFIELD A TEUGELS E SCHWAB M CANNONALBRIGHT L BISHOP T EASTON D BENITEZ J KING MC PONDER BAJ WEBER B DEVILEE P BORG A NAROD SA GOLDGAR D
Citation: Sl. Neuhausen et al., HAPLOTYPE AND PHENOTYPE ANALYSIS OF 9 RECURRENT BRCA2 MUTATIONS IN 111 FAMILIES - RESULTS OF AN INTERNATIONAL STUDY, American journal of human genetics, 62(6), 1998, pp. 1381-1388
CO-SEGREGATION OF BRCA1 185DELAG MUTATION AND BRCA2 6174DELT IN ONE SINGLE-FAMILY
Authors: GERSHONIBARUCH R DAGAN E KEPTEN I FREID G
Citation: R. Gershonibaruch et al., CO-SEGREGATION OF BRCA1 185DELAG MUTATION AND BRCA2 6174DELT IN ONE SINGLE-FAMILY, European journal of cancer, 33(13), 1997, pp. 2283-2284
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME AND HYPOTHALAMOPITUITARY INSUFFICIENCY
Authors: GERSHONIBARUCH R GOLDSCHER D HOCHBERG Z
Citation: R. Gershonibaruch et al., ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME AND HYPOTHALAMOPITUITARY INSUFFICIENCY, American journal of medical genetics, 68(2), 1997, pp. 168-172
PATTERNS OF MORBIDITY IN HIGHLY SELECTED PATIENTS WITH BREAST AND OR OVARIAN-CANCER CARRIERS OF THE 3 ANCIENT MUTATIONS, 185DELAG AND 5382INSC IN BRCA1 AND 6174DELT IN BRCA2/
Authors: DAGAN E KEPTEN I AKKERMAN T FRIED G BEK D GERSHONIBARUCH R
Citation: E. Dagan et al., PATTERNS OF MORBIDITY IN HIGHLY SELECTED PATIENTS WITH BREAST AND OR OVARIAN-CANCER CARRIERS OF THE 3 ANCIENT MUTATIONS, 185DELAG AND 5382INSC IN BRCA1 AND 6174DELT IN BRCA2/, American journal of human genetics, 61(4), 1997, pp. 337-337
DIRECTLY DERIVED PENETRANCE ESTIMATES FOR THE FOUNDER BRCA1 BRCA2 MUTATIONS IN JEWS - THE ISRAELI CONSORTIUM ON HEREDITARY BREAST-CANCER/
Authors: LEVYLAHAD E GERSHONIBARUCH R SAGI M ORRURTREGER A BENYEHUDA A DAGAN E BARSADE R LAHAD A HALLE D PERETZ T FRIEDMAN E
Citation: E. Levylahad et al., DIRECTLY DERIVED PENETRANCE ESTIMATES FOR THE FOUNDER BRCA1 BRCA2 MUTATIONS IN JEWS - THE ISRAELI CONSORTIUM ON HEREDITARY BREAST-CANCER/, American journal of human genetics, 61(4), 1997, pp. 389-389
CARRIER FREQUENCY OF THE G47D MUTATION IN THE TYROSINASE GENE IN INDIVIDUALS OF JEWISH MOROCCAN ORIGIN
Authors: DAGAN E KEPTEN I AKERMAN T FRIED G BEK D GERSHONIBARUCH R BADARNA K
Citation: E. Dagan et al., CARRIER FREQUENCY OF THE G47D MUTATION IN THE TYROSINASE GENE IN INDIVIDUALS OF JEWISH MOROCCAN ORIGIN, American journal of human genetics, 61(4), 1997, pp. 1169-1169
DELETION (13)(Q22) WITH MULTIPLE CONGENITAL-ANOMALIES, HYDRANENCEPHALY AND PENOSCROTAL TRANSPOSITION
Authors: GERSHONIBARUCH R ZEKARIA D
Citation: R. Gershonibaruch et D. Zekaria, DELETION (13)(Q22) WITH MULTIPLE CONGENITAL-ANOMALIES, HYDRANENCEPHALY AND PENOSCROTAL TRANSPOSITION, Clinical dysmorphology, 5(4), 1996, pp. 289-294
CONGENITAL PERMANENT DIABETES - A DIFFERENT TYPE OF DIABETES
Authors: SHEHADEH N GERSHONIBARUCH R MANDEL H NUTENKO I ETZIONI A
Citation: N. Shehadeh et al., CONGENITAL PERMANENT DIABETES - A DIFFERENT TYPE OF DIABETES, Acta paediatrica, 85(12), 1996, pp. 1415-1417
INTERSTITIAL DELETION (6)Q13Q15
Authors: GERSHONIBARUCH R MANDEL H EL HB BARNIZAN N BOROCHOWITZ Z DAR H
Citation: R. Gershonibaruch et al., INTERSTITIAL DELETION (6)Q13Q15, American journal of medical genetics, 62(4), 1996, pp. 345-347
APLASIA-CUTIS-CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION IN 2 SIBS - A NEW AUTOSOMAL RECESSIVE DISORDER
Authors: GERSHONIBARUCH R LEIBO R
Citation: R. Gershonibaruch et R. Leibo, APLASIA-CUTIS-CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION IN 2 SIBS - A NEW AUTOSOMAL RECESSIVE DISORDER, American journal of medical genetics, 61(1), 1996, pp. 42-44
FIRST TRIMESTER PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME (7-DEHYDROCHOLESTEROL REDUCTASE DEFICIENCY)
Authors: MILLS K MANDEL H MONTEMAGNO R SOOTHILL P GERSHONIBARUCH R CLAYTON PT
Citation: K. Mills et al., FIRST TRIMESTER PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME (7-DEHYDROCHOLESTEROL REDUCTASE DEFICIENCY), Pediatric research, 39(5), 1996, pp. 816-819
MARKEDLY ELEVATED ALPHA-FETOPROTEIN AND POSITIVE ACETYLCHOLINESTERASEIN AMNIOTIC-FLUID FROM A PREGNANCY AFFECTED WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DRUGAN A VADAS A SUJOV P GERSHONIBARUCH R
Citation: A. Drugan et al., MARKEDLY ELEVATED ALPHA-FETOPROTEIN AND POSITIVE ACETYLCHOLINESTERASEIN AMNIOTIC-FLUID FROM A PREGNANCY AFFECTED WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Fetal diagnosis and therapy, 10(1), 1995, pp. 37-40
AUTOSOMAL-DOMINANT HOLOCALVARIAL CRANIOSYNOSTOSIS
Authors: PILLAR G ZAAROOR M GERSHONIBARUCH R
Citation: G. Pillar et al., AUTOSOMAL-DOMINANT HOLOCALVARIAL CRANIOSYNOSTOSIS, Child's nervous system, 11(11), 1995, pp. 617-620
DOPA REACTION OF FETAL MELANOCYTES BEFORE AND AFTER SKIN TRANSPLANTATION ON TO NUDE-MICE
Authors: GILHAR A GERSHONIBARUCH R MARGOLIS A BENDERLY A BRANDES JM
Citation: A. Gilhar et al., DOPA REACTION OF FETAL MELANOCYTES BEFORE AND AFTER SKIN TRANSPLANTATION ON TO NUDE-MICE, British journal of dermatology, 133(6), 1995, pp. 884-889
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC) SYNDROME AND HYPOTHALAMIC-PITUITARY INSUFFICIENCY
Authors: GERSHONIBARUCH R GOLDSCHER D HOCHBERG Z
Citation: R. Gershonibaruch et al., ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC) SYNDROME AND HYPOTHALAMIC-PITUITARY INSUFFICIENCY, American journal of human genetics, 57(4), 1995, pp. 492-492
ACTIGRAPHIC HOME-MONITORING OF THE SLEEP PATTERNS OF IN-VITRO FERTILIZATION CHILDREN AND THEIR MATCHED CONTROLS
Authors: GERSHONIBARUCH R EPSTEIN R TZISCHINSKY O LAVIE P BRANDES JM
Citation: R. Gershonibaruch et al., ACTIGRAPHIC HOME-MONITORING OF THE SLEEP PATTERNS OF IN-VITRO FERTILIZATION CHILDREN AND THEIR MATCHED CONTROLS, Developmental Medicine and Child Neurology, 36(7), 1994, pp. 639-645
IN-VIVO NEUTROPHIL AND LYMPHOCYTE FUNCTION STUDIES IN A PATIENT WITH LEUKOCYTE ADHESION DEFICIENCY TYPE-II
Authors: PRICE TH OCHS HD GERSHONIBARUCH R HARLAN JM ETZIONI A
Citation: Th. Price et al., IN-VIVO NEUTROPHIL AND LYMPHOCYTE FUNCTION STUDIES IN A PATIENT WITH LEUKOCYTE ADHESION DEFICIENCY TYPE-II, Blood, 84(5), 1994, pp. 1635-1639
SIALYL-LEWIS-X AND NEUTROPHIL AGGREGATION
Authors: ETZIONI A GERSHONIBARUCH R HARLAN JM
Citation: A. Etzioni et al., SIALYL-LEWIS-X AND NEUTROPHIL AGGREGATION, Blood, 83(3), 1994, pp. 876-877
MUTATIONS OF THE TYROSINASE GENE IN PATIENTS WITH OCULOCUTANEOUS ALBINISM FROM VARIOUS ETHNIC-GROUPS IN ISRAEL
Authors: GERSHONIBARUCH R ROSENMANN A DROETTO S HOLMES S TRIPATHI RK SPRITZ RA
Citation: R. Gershonibaruch et al., MUTATIONS OF THE TYROSINASE GENE IN PATIENTS WITH OCULOCUTANEOUS ALBINISM FROM VARIOUS ETHNIC-GROUPS IN ISRAEL, American journal of human genetics, 54(4), 1994, pp. 586-594
Risultati: 1-25 | 26-29