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Results: 1-25 | 26-50 | 51-54
Results: 1-25/54
PREVALENCE OF GLUCOCEREBROSIDASE MUTATIONS IN THE ISRAELI ASHKENAZI JEWISH POPULATION
Authors: HOROWITZ M PASMANIKCHOR M BOROCHOWITZ Z FALIKZACCAI T HELDMANN K CARMI R PARVARI R BEITOR H GOLDMAN B PELEG L LEVYLAHAD E RENBAUM P LEGUM S SHOMRAT R YEGER H BENBENISTI D NAVON R DROR V SHOHAT M MAGAL N NAVOT N EYAL N
Citation: M. Horowitz et al., PREVALENCE OF GLUCOCEREBROSIDASE MUTATIONS IN THE ISRAELI ASHKENAZI JEWISH POPULATION, Human mutation, 12(4), 1998, pp. 240-244
IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS
Authors: SCOTT DA KRAFT ML CARMI R RAMESH A ELBEDOUR K YAIRI Y SRISAILAPATHY CRS ROSENGREN SS MARKHAM AF MUELLER RF LENCH NJ VANCAMP G SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS, Human mutation, 11(5), 1998, pp. 387-394
HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION
Authors: HEANEY C SHALEV H ELBEDOUR K CARMI R STAACK JB SHEFFIELD VC BEIER DR
Citation: C. Heaney et al., HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION, Human molecular genetics (Print), 7(9), 1998, pp. 1407-1410
HYPOCOMPLEMENTEMIC AUTOSOMAL RECESSIVE HEMOLYTIC-UREMIC SYNDROME WITHDECREASED FACTOR-H - ORIGINAL ARTICLE
Authors: OHALI M SHALEV H SCHLESINGER M KATZ Y KACHKO L CARMI R SOFER S LANDAU D
Citation: M. Ohali et al., HYPOCOMPLEMENTEMIC AUTOSOMAL RECESSIVE HEMOLYTIC-UREMIC SYNDROME WITHDECREASED FACTOR-H - ORIGINAL ARTICLE, Pediatric nephrology, 12(8), 1998, pp. 619-624
IDENTIFICATION AND MUTATION ANALYSIS OF A COCHLEAR-EXPRESSED, ZINC-FINGER PROTEIN GENE AT THE DFNB7 11 AND DN HEARING-LOSS-LOCI ON HUMAN-CHROMOSOME 9Q AND MOUSE-CHROMOSOME-19/
Authors: SCOTT DA GREINWALD JH MARIETTA JR DRURY S SWIDERSKI RE VINAS A DEANGELIS MM CARMI R RAMESH A KRAFT ML SKWORAK AB FRIEDMAN RA SRISAILAPATHY CRS VERHOEVEN K VANCAMP G LOVETT M DEININGER PL BATZER MA MORTON CC KEATS BJ SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION AND MUTATION ANALYSIS OF A COCHLEAR-EXPRESSED, ZINC-FINGER PROTEIN GENE AT THE DFNB7 11 AND DN HEARING-LOSS-LOCI ON HUMAN-CHROMOSOME 9Q AND MOUSE-CHROMOSOME-19/, Gene, 215(2), 1998, pp. 461-469
DECISIONS REGARDING PREGNANCY TERMINATION AMONG BEDOUIN COUPLES REFERRED TO 3RD LEVEL ULTRASOUND CLINIC
Authors: SHEINER E SHOHAMVARDI I WEITZMAN D GOHAR J CARMI R
Citation: E. Sheiner et al., DECISIONS REGARDING PREGNANCY TERMINATION AMONG BEDOUIN COUPLES REFERRED TO 3RD LEVEL ULTRASOUND CLINIC, European journal of obstetrics, gynecology, and reproductive biology, 76(2), 1998, pp. 141-146
THE RELATIONSHIP BETWEEN CONGENITAL CARDIOVASCULAR MALFORMATIONS AND SPONTANEOUS-ABORTION IN PRECEDING PREGNANCY
Authors: SHEINER E KATZ M FRASER D GOHAR J CARMI R
Citation: E. Sheiner et al., THE RELATIONSHIP BETWEEN CONGENITAL CARDIOVASCULAR MALFORMATIONS AND SPONTANEOUS-ABORTION IN PRECEDING PREGNANCY, Paediatric and perinatal epidemiology, 12(2), 1998, pp. 128-135
USE OF ISOLATED INBRED HUMAN-POPULATIONS FOR IDENTIFICATION OF DISEASE GENES
Authors: SHEFFIELD VC STONE EM CARMI R
Citation: Vc. Sheffield et al., USE OF ISOLATED INBRED HUMAN-POPULATIONS FOR IDENTIFICATION OF DISEASE GENES, Trends in genetics, 14(10), 1998, pp. 391-396
EPIDERMOLYSIS-BULLOSA, PYLORIC ATRESIA, APLASIA-CUTIS-CONGENITA - HISTOPATHOLOGICAL DELINEATION OF AN AUTOSOMAL RECESSIVE DISEASE
Authors: MAMAN E MAOR E KACHKO L CARMI R
Citation: E. Maman et al., EPIDERMOLYSIS-BULLOSA, PYLORIC ATRESIA, APLASIA-CUTIS-CONGENITA - HISTOPATHOLOGICAL DELINEATION OF AN AUTOSOMAL RECESSIVE DISEASE, American journal of medical genetics, 78(2), 1998, pp. 127-133
RETICULOLINEAR APLASIA-CUTIS-CONGENITA OF THE FACE AND NECK - A DISTINCTIVE CUTANEOUS MANIFESTATION IN SEVERAL SYNDROMES LINKED TO XP22
Authors: ZVULUNOV A KACHKO L MANOR E SHINWELL E CARMI R
Citation: A. Zvulunov et al., RETICULOLINEAR APLASIA-CUTIS-CONGENITA OF THE FACE AND NECK - A DISTINCTIVE CUTANEOUS MANIFESTATION IN SEVERAL SYNDROMES LINKED TO XP22, British journal of dermatology, 138(6), 1998, pp. 1046-1052
CLINICAL PRESENTATION AND OUTCOME IN PRIMARY FAMILIAL HYPOMAGNESEMIA
Authors: SHALEV H PHILLIP M GALIL A CARMI R LANDAU D
Citation: H. Shalev et al., CLINICAL PRESENTATION AND OUTCOME IN PRIMARY FAMILIAL HYPOMAGNESEMIA, Archives of Disease in Childhood, 78(2), 1998, pp. 127-130
A BEDOUIN KINDRED WITH INFANTILE NEPHRONOPHTHISIS DEMONSTRATES LINKAGE TO CHROMOSOME 9 BY HOMOZYGOSITY MAPPING
Authors: HAIDER NB CARMI R SHALEV H SHEFFIELD VC LANDAU D
Citation: Nb. Haider et al., A BEDOUIN KINDRED WITH INFANTILE NEPHRONOPHTHISIS DEMONSTRATES LINKAGE TO CHROMOSOME 9 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(5), 1998, pp. 1404-1410
HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43
Authors: PARVARI R HERSHKOVITZ E KANIS A GORODISCHER R SHALITIN S SHEFFIELD VC CARMI R
Citation: R. Parvari et al., HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43, American journal of human genetics, 63(1), 1998, pp. 163-169
LINKAGE OF INFANTILE BARTTER-SYNDROME WITH SENSORINEURAL DEAFNESS TO CHROMOSOME 1P
Authors: BRENNAN TMH LANDAU D SHALEV H LAMB F SCHUTTE BC WALDER RY MARK AL CARMI R SHEFFIELD VC
Citation: Tmh. Brennan et al., LINKAGE OF INFANTILE BARTTER-SYNDROME WITH SENSORINEURAL DEAFNESS TO CHROMOSOME 1P, American journal of human genetics, 62(2), 1998, pp. 355-361
CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21
Authors: GREINWALD JH SCOTT DA MARIETTA JR CARMI R MANALIGOD J RAMESH A ZBAR RIS KRAFT ML ELBEDOUR K YAIRI Y MUSY M SKVORAK AB VANCAMP G SRISAILAPATHY CRS LOVETT M MORTON CC SHEFFIELD VC SMITH RJH
Citation: Jh. Greinwald et al., CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21, PCR methods and applications, 7(9), 1997, pp. 879-886
FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT
Authors: WALDER RY SHALEV H BRENNAN TMH CARMI R ELBEDOUR K SCOTT DA HANAUER A MARK AL PATIL S STONE EM SHEFFIELD VC
Citation: Ry. Walder et al., FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT, Human molecular genetics, 6(9), 1997, pp. 1491-1497
A NOVEL PUTATIVE TRANSPORTER IS ABSENT IN THE OSTEOSCLEROSIS (OC) MOUSE AND IS LINKED TO AUTOSOMAL RECESSIVE OSTEOPETROSIS IN HUMANS
Authors: BEIER DR DUSHKIN H BRADY KP HER H JACOBSON PS SHANKAR G HEANEY C CARMI R SHEFFIELD V
Citation: Dr. Beier et al., A NOVEL PUTATIVE TRANSPORTER IS ABSENT IN THE OSTEOSCLEROSIS (OC) MOUSE AND IS LINKED TO AUTOSOMAL RECESSIVE OSTEOPETROSIS IN HUMANS, Journal of bone and mineral research, 12, 1997, pp. 657-657
INHERITANCE OF FAMILIAL CONGENITAL ISOLATED ANORECTAL-MALFORMATIONS -CASE-REPORT AND REVIEW
Authors: LANDAU D MORDECHAI J KARPLUS M CARMI R
Citation: D. Landau et al., INHERITANCE OF FAMILIAL CONGENITAL ISOLATED ANORECTAL-MALFORMATIONS -CASE-REPORT AND REVIEW, American journal of medical genetics, 71(3), 1997, pp. 280-282
NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS
Authors: CARSTEA ED MORRIS JA COLEMAN KG LOFTUS SK ZHANG D CUMMINGS C GU J ROSENFELD MA PAVAN WJ KRIZMAN DB NAGLE J POLYMEROPOULOS MH STURLEY SL IOANNOU YA HIGGINS ME COMLY M COONEY A BROWN A KANESKI CR BLANCHETTEMACKIE EJ DWYER NK NEUFELD EB CHANG TY LISCUM L STRAUSS JF OHNO K ZEIGLER M CARMI R SOKOL J MARKIE D ONEILL RR VANDIGGELEN OP ELLEDER M PATTERSON MC BRADY RO VANIER MT PENTCHEV PG TAGLE DA
Citation: Ed. Carstea et al., NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS, Science, 277(5323), 1997, pp. 228-231
GENETIC-MAPPING OF RECESSIVE OSTEOPETROSIS TO 11Q12-13
Authors: HEANEY C CARMI R DUSHKIN H SHEFFIELD V BEIER DR
Citation: C. Heaney et al., GENETIC-MAPPING OF RECESSIVE OSTEOPETROSIS TO 11Q12-13, American journal of human genetics, 61(4), 1997, pp. 54-54
IDENTIFICATION OF A NOVEL TYPE OF INFANTILE NEPHRONOPHTHISIS ON CHROMOSOME-9 BY USING THE DNA POOLING STRATEGY
Authors: HAIDER NB CARMI R SHALEV H KANIS A SHEFFIELD VC LANDAU D
Citation: Nb. Haider et al., IDENTIFICATION OF A NOVEL TYPE OF INFANTILE NEPHRONOPHTHISIS ON CHROMOSOME-9 BY USING THE DNA POOLING STRATEGY, American journal of human genetics, 61(4), 1997, pp. 63-63
IDENTIFICATION AND MUTATION ANALYSIS OF 2 COCHLEAR EXPRESSED GENES ATTHE DFNB7 11 LOCUS ON CHROMOSOME 9Q/
Authors: SCOTT DA GREINWALD JH MARIETTA JR SWIDERSKI RE CARMI R RAMESH A KRAFT ML ELBEDOUR K YAIRI Y SHVORAK AB SRISAILAPATHY CRS MORTON CC SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION AND MUTATION ANALYSIS OF 2 COCHLEAR EXPRESSED GENES ATTHE DFNB7 11 LOCUS ON CHROMOSOME 9Q/, American journal of human genetics, 61(4), 1997, pp. 1713-1713
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA (HSH) - NARROWING THE DISEASE REGION ON CHROMOSOME-9 AND MAPPING THE BREAKPOINT IN A HSH AFFECTED FEMALE WITH BALANCED X-9 TRANSLOCATION
Authors: WALDER RY SHALEV H CARMI R ELBEDOUR K HANAUER A PATIL S BRENNAN TMH SCOTT DA MARK AL STONE EM SHEFFIELD VC
Citation: Ry. Walder et al., HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA (HSH) - NARROWING THE DISEASE REGION ON CHROMOSOME-9 AND MAPPING THE BREAKPOINT IN A HSH AFFECTED FEMALE WITH BALANCED X-9 TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 1747-1747
IMMUNE-MEDIATED PATHOGENESIS OF FAMILIAL HYPOCOMPLEMENTEMIC HEMOLYTIC-UREMIC SYNDROME (HUS)
Authors: LANDAU D OHALI M SHALEV H SCHLEZINGER M MAOR E CARMI R
Citation: D. Landau et al., IMMUNE-MEDIATED PATHOGENESIS OF FAMILIAL HYPOCOMPLEMENTEMIC HEMOLYTIC-UREMIC SYNDROME (HUS), Journal of the American Society of Nephrology, 7(9), 1996, pp. 1837-1837
MAPPING OF AN INFANTILE VARIANT OF BARTTER-SYNDROME (IBS) TO CHROMOSOME-1
Authors: LANDAU D SHALEV H BRENNAN T SHEFFIELD V CARMI R
Citation: D. Landau et al., MAPPING OF AN INFANTILE VARIANT OF BARTTER-SYNDROME (IBS) TO CHROMOSOME-1, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1838-1838
Risultati: 1-25 | 26-50 | 51-54