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Results: 1-25/107
MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY
Authors: MINASSIAN BA LEE JR HERBRICK JA HUIZENGA J SODER S MUNGALL AJ DUNHAM I GARDNER R FONG CG CARPENTER S JARDIM L SATISHCHANDRA P ANDERMANN E SNEAD OC LOPESCENDES I TSUI LC DELGADOESCUETA AV ROULEAU GA SCHERER SW
Citation: Ba. Minassian et al., MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY, Nature genetics, 20(2), 1998, pp. 171-174
CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA)
Authors: BELLONI E VERDERIO D ROMMENS JM HUIZENGA J SHI XM SIEGELBARTELT J ROESSLER E MUENKE M FERRARI M TSUI LC SCHERER SW
Citation: E. Belloni et al., CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA), European journal of human genetics, 6, 1998, pp. 4025-4025
MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER)
Authors: COYLE B REARDON W HERBRICK JA TSUI LC GAUSDEN E LEE J COFFEY R GRUETERS A GROSSMAN A PHELPS PD LUXON L KENDALLTAYLOR P SCHERER SW TREMBATH RC
Citation: B. Coyle et al., MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER), Human molecular genetics (Print), 7(7), 1998, pp. 1105-1112
DETECTION OF A HOMOZYGOUS 4-BASE-PAIR DELETION IN THE PROTEIN-X GENE IN A CASE OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
Authors: LING MF MCEACHERN G SEYDA A MACKAY N SCHERER SW BRATINOVA S BEATTY B GIOVANNUCCIUZIELLI ML ROBINSON BH
Citation: Mf. Ling et al., DETECTION OF A HOMOZYGOUS 4-BASE-PAIR DELETION IN THE PROTEIN-X GENE IN A CASE OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY, Human molecular genetics, 7(3), 1998, pp. 501-505
LOCALIZATION OF 67 EXONS ON A YAC CONTIG SPANNING 1.5 MB AROUND THE MULTIDRUG-RESISTANCE GENE REGION OF HUMAN-CHROMOSOME 7Q21.1
Authors: TORIGOE K HARADA T KUSABA H UCHIUMI T KOHNO K GREEN ED SCHERER SW TSUI LC SCHLESSINGER D KUWANO M WADA M
Citation: K. Torigoe et al., LOCALIZATION OF 67 EXONS ON A YAC CONTIG SPANNING 1.5 MB AROUND THE MULTIDRUG-RESISTANCE GENE REGION OF HUMAN-CHROMOSOME 7Q21.1, Genomics, 49(1), 1998, pp. 14-22
P450RAI (CYP26A1) MAPS TO HUMAN-CHROMOSOME 10Q23-Q24 AND MOUSE-CHROMOSOME 19C2-3
Authors: WHITE JA BECKETT B SCHERER SW HERBRICK JA PETKOVICH M
Citation: Ja. White et al., P450RAI (CYP26A1) MAPS TO HUMAN-CHROMOSOME 10Q23-Q24 AND MOUSE-CHROMOSOME 19C2-3, Genomics, 48(2), 1998, pp. 270-272
THE HYALURONIDASE GENE HYAL1 MAPS TO CHROMOSOME 3P21.2-P21.3 IN HUMANAND 9F1-F2 IN MOUSE, A CONSERVED CANDIDATE TUMOR-SUPPRESSOR LOCUS
Authors: CSOKA TB FROST GI HENG HHQ SCHERER SW MOHAPATRA G STERN R
Citation: Tb. Csoka et al., THE HYALURONIDASE GENE HYAL1 MAPS TO CHROMOSOME 3P21.2-P21.3 IN HUMANAND 9F1-F2 IN MOUSE, A CONSERVED CANDIDATE TUMOR-SUPPRESSOR LOCUS, Genomics, 48(1), 1998, pp. 63-70
GENOMIC STRUCTURE OF THE HUMAN CONGENITAL CHLORIDE DIARRHEA (CLD) GENE
Authors: HAILA S HOGLUND P SCHERER SW LEE JR KRISTO P COYLE B TREMBATH R HOLMBERG C DELACHAPELLE A KERE J
Citation: S. Haila et al., GENOMIC STRUCTURE OF THE HUMAN CONGENITAL CHLORIDE DIARRHEA (CLD) GENE, Gene, 214(1-2), 1998, pp. 87-93
HUMAN PON2 GENE AT 7Q21.3 - CLONING, MULTIPLE MESSENGER-RNA FORMS, AND MISSENSE POLYMORPHISMS IN THE CODING SEQUENCE
Authors: MOCHIZUKI H SCHERER SW XI T NICKLE DC MAJER M HUIZENGA JJ TSUI LC PROCHAZKA M
Citation: H. Mochizuki et al., HUMAN PON2 GENE AT 7Q21.3 - CLONING, MULTIPLE MESSENGER-RNA FORMS, AND MISSENSE POLYMORPHISMS IN THE CODING SEQUENCE, Gene, 213(1-2), 1998, pp. 149-157
ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY
Authors: VARGAS FR ROESSLER E GAUDENZ K BELLONI E WHITEHEAD AS KIRKE PN MILLS JL HOOPER G STEVENSON RE CORDEIRO I CORREIA P FELIX T GEREIGE R CUNNINGHAM ML CANUN S ANTONARAKIS SE STRACHAN T TSUI LC SCHERER SW MUENKE M
Citation: Fr. Vargas et al., ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY, Human genetics, 102(4), 1998, pp. 387-392
CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA
Authors: LECLERC D WILSON A DUMAS R GAFUIK C SONG D WATKINS D HENG HHQ ROMMENS JM SCHERER SW ROSENBLATT DS GRAVEL RA
Citation: D. Leclerc et al., CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(6), 1998, pp. 3059-3064
MOLECULAR CHARACTERIZATION OF A COMMON FRAGILE SITE (FRA7H) ON HUMAN-CHROMOSOME-7 BY THE CLONING OF A SIMIAN-VIRUS-40 INTEGRATION SITE
Authors: MISHMAR D RAHAT A SCHERER SW NYAKATURA G HINZMANN B KOHWI Y MANDELGUTFROIND Y LEE JR DRESCHER B SAS DE MARGALIT H PLATZER M WEISS A TSUI LC ROSENTHAL A KEREM B
Citation: D. Mishmar et al., MOLECULAR CHARACTERIZATION OF A COMMON FRAGILE SITE (FRA7H) ON HUMAN-CHROMOSOME-7 BY THE CLONING OF A SIMIAN-VIRUS-40 INTEGRATION SITE, Proceedings of the National Academy of Sciences of the United Statesof America, 95(14), 1998, pp. 8141-8146
VARIATION IN THE AU(AT)-RICH ELEMENT WITHIN THE 3'-UNTRANSLATED REGION OF PPP1R3 IS ASSOCIATED WITH VARIATION IN PLASMA-GLUCOSE IN ABORIGINAL CANADIANS
Authors: HEGELE RA HARRIS SB ZINMAN B WANG J CAO HN HANLEY AJG TSUI LC SCHERER SW
Citation: Ra. Hegele et al., VARIATION IN THE AU(AT)-RICH ELEMENT WITHIN THE 3'-UNTRANSLATED REGION OF PPP1R3 IS ASSOCIATED WITH VARIATION IN PLASMA-GLUCOSE IN ABORIGINAL CANADIANS, The Journal of clinical endocrinology and metabolism, 83(11), 1998, pp. 3980-3983
GENETIC-VARIATION IN PARAOXONASE-1 AND PARAOXONASE-2 IS ASSOCIATED WITH VARIATION IN PLASMA-LIPOPROTEINS IN ALBERTA HUTTERITES
Authors: BORIGHT AP CONNELLY PW BRUNT JH SCHERER SW TSUI LC HEGELE RA
Citation: Ap. Boright et al., GENETIC-VARIATION IN PARAOXONASE-1 AND PARAOXONASE-2 IS ASSOCIATED WITH VARIATION IN PLASMA-LIPOPROTEINS IN ALBERTA HUTTERITES, Atherosclerosis (Amsterdam), 139(1), 1998, pp. 131-136
A COMMON VARIANT IN PPP1R3 ASSOCIATED WITH INSULIN-RESISTANCE AND TYPE-2 DIABETES
Authors: XIA J SCHERER SW COHEN PTW MAJER M XI T NORMAN RA KNOWLER WC BOGARDUS C PROCHAZKA M
Citation: J. Xia et al., A COMMON VARIANT IN PPP1R3 ASSOCIATED WITH INSULIN-RESISTANCE AND TYPE-2 DIABETES, Diabetes, 47(9), 1998, pp. 1519-1524
GENETIC-VARIATION IN PARAOXONASE-2 IS ASSOCIATED WITH VARIATION IN PLASMA-LIPOPROTEINS IN CANADIAN OJI-CREE
Authors: HEGELE RA HARRIS SB CONNELLY PW HANLEY AJG TSUI LC ZINMAN B SCHERER SW
Citation: Ra. Hegele et al., GENETIC-VARIATION IN PARAOXONASE-2 IS ASSOCIATED WITH VARIATION IN PLASMA-LIPOPROTEINS IN CANADIAN OJI-CREE, Clinical genetics, 54(5), 1998, pp. 394-399
MOLECULAR CYTOGENETIC CHARACTERIZATION OF A CRITICAL REGION IN BANDS 7Q35-Q36 COMMONLY DELETED IN MALIGNANT MYELOID DISORDERS
Authors: DOHNER K BROWN J HEHMANN U HETZEL C STEWART J LOWTHER G SCHOLL C FROHLING S CUNEO A TSUI LC LICHTER P SCHERER SW DOHNER H
Citation: K. Dohner et al., MOLECULAR CYTOGENETIC CHARACTERIZATION OF A CRITICAL REGION IN BANDS 7Q35-Q36 COMMONLY DELETED IN MALIGNANT MYELOID DISORDERS, Blood, 92(11), 1998, pp. 4031-4035
STRUCTURAL CHARACTERIZATION AND MAPPING OF THE NORMAL EPITHELIAL CELL-SPECIFIC-1 GENE
Authors: LUO LY HERBRICK JA SCHERER SW BEATTY B SQUIRE J DIAMANDIS EP
Citation: Ly. Luo et al., STRUCTURAL CHARACTERIZATION AND MAPPING OF THE NORMAL EPITHELIAL CELL-SPECIFIC-1 GENE, Biochemical and biophysical research communications (Print), 247(3), 1998, pp. 580-586
RESOURCES FOR HUMAN-GENETICS ON THE WORLD-WIDE-WEB
Authors: OSBORNE LR LEE JR SCHERER SW
Citation: Lr. Osborne et al., RESOURCES FOR HUMAN-GENETICS ON THE WORLD-WIDE-WEB, Molecular medicine today, 3(9), 1997, pp. 370-373
GERMLINE AND SOMATIC MUTATIONS IN THE TYROSINE KINASE DOMAIN OF THE MET PROTOONCOGENE IN PAPILLARY RENAL CARCINOMAS
Authors: SCHMIDT L DUH FM CHEN F KISHIDA T GLENN G CHOYKE P SCHERER SW ZHUANG ZP LUBENSKY I DEAN M ALLIKMETS R CHIDAMBARAM A BERGERHEIM UR FELTIS JT CASADEVALL C ZAMARRON A BERNUES M RICHARD S LIPS CJM WALTHER MM TSUI LC GEIL L ORCUTT ML STACKHOUSE T LIPAN J SLIFE L BRAUCH H DECKER J NIEHANS G HUGHSON MD MOCH H STORKEL S LERMAN MI LINEHAN WM ZBAR B
Citation: L. Schmidt et al., GERMLINE AND SOMATIC MUTATIONS IN THE TYROSINE KINASE DOMAIN OF THE MET PROTOONCOGENE IN PAPILLARY RENAL CARCINOMAS, Nature genetics, 16(1), 1997, pp. 68-73
TRANSLOCATION BREAKPOINT MAPS 5 KB 3' FROM TWIST IN A PATIENT AFFECTED WITH SAETHRE-CHOTZEN-SYNDROME
Authors: KREBS I WEIS I HUDLER M ROMMENS JM ROTH H SCHERER SW TSUI LC FUCHTBAUER EM GRZESCHIK KH TSUJI K KUNZ J
Citation: I. Krebs et al., TRANSLOCATION BREAKPOINT MAPS 5 KB 3' FROM TWIST IN A PATIENT AFFECTED WITH SAETHRE-CHOTZEN-SYNDROME, Human molecular genetics, 6(7), 1997, pp. 1079-1086
MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E BELLONI E GAUDENZ K VARGAS F SCHERER SW TSUI LC MUENKE M
Citation: E. Roessler et al., MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY, Human molecular genetics, 6(11), 1997, pp. 1847-1853
GENE STRUCTURE OF THE HUMAN MET PROTOONCOGENE
Authors: DUH FM SCHERER SW TSUI LC LERMAN MI ZBAR B SCHMIDT L
Citation: Fm. Duh et al., GENE STRUCTURE OF THE HUMAN MET PROTOONCOGENE, Oncogene, 15(13), 1997, pp. 1583-1586
IDENTIFICATION OF A 1300 KILOBASE DELETION UNIT ON CHROMOSOME 7Q31.3 IN INVASIVE EPITHELIAL OVARIAN CARCINOMAS
Authors: EDELSON MI SCHERER SW TSUI LC WELCH WR BELL DA BERKOWITZ RS MOK SC
Citation: Mi. Edelson et al., IDENTIFICATION OF A 1300 KILOBASE DELETION UNIT ON CHROMOSOME 7Q31.3 IN INVASIVE EPITHELIAL OVARIAN CARCINOMAS, Oncogene, 14(24), 1997, pp. 2979-2984
LOSS OF HETEROZYGOSITY AND REDUCED EXPRESSION OF THE CUTL1 GENE IN UTERINE LEIOMYOMAS
Authors: ZENG WR SCHERER SW KOUTSILIERIS M HUIZENGA JJ FILTEAU F TSUI LC NEPVEU A
Citation: Wr. Zeng et al., LOSS OF HETEROZYGOSITY AND REDUCED EXPRESSION OF THE CUTL1 GENE IN UTERINE LEIOMYOMAS, Oncogene, 14(19), 1997, pp. 2355-2365
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