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Results: 26-50/207
IDENTIFICATION OF A SPLICE-SITE MUTATION (2789-G-GREATER-THAN-A) ASSOCIATED WITH SMALL AMOUNTS OF NORMAL CFTR MESSENGER-RNA AND MILD CYSTIC-FIBROSIS(5)
Authors: HIGHSMITH WE BURCH LH ZHOU ZQ OLSEN JC STRONG TV SMITH T FRIEDMAN KJ SILVERMAN LM BOUCHER RC COLLINS FS KNOWLES MR
Citation: We. Highsmith et al., IDENTIFICATION OF A SPLICE-SITE MUTATION (2789-G-GREATER-THAN-A) ASSOCIATED WITH SMALL AMOUNTS OF NORMAL CFTR MESSENGER-RNA AND MILD CYSTIC-FIBROSIS(5), Human mutation, 9(4), 1997, pp. 332-338
A TRANSCRIPT MAP FOR THE 2.8-MB REGION CONTAINING THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 LOCUS
Authors: GURU SC AGARWAL SK MANICKAM P OLUFEMI SE CRABTREE JS WEISEMANN JM KESTER MB KIM YS WANG YP EMMERTBUCK MR LIOTTA LA SPIEGEL AM BOGUSKI MS ROE BA COLLINS FS MARX SJ BURNS L CHANDRASEKHARAPPA SC
Citation: Sc. Guru et al., A TRANSCRIPT MAP FOR THE 2.8-MB REGION CONTAINING THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 LOCUS, PCR methods and applications, 7(7), 1997, pp. 725-735
METHODS FOR PRECISE SIZING, AUTOMATED BINNING OF ALLELES, AND REDUCTION OF ERROR RATES IN LARGE-SCALE GENOTYPING USING FLUORESCENTLY LABELED DINUCLEOTIDE MARKERS
Authors: GHOSH S KARANJAWALA ZE HAUSER ER ALLY D KNAPP JI RAYMAN JB MUSICK A TANNENBAUM J TE C SHAPIRO S ELDRIDGE W MUSICK T MARTIN C SMITH JR CARPTEN JD BROWNSTEIN MJ POWELL JI WHITEN R CHINES P NYLUND SJ MAGNUSON VL BOEHNKE M COLLINS FS
Citation: S. Ghosh et al., METHODS FOR PRECISE SIZING, AUTOMATED BINNING OF ALLELES, AND REDUCTION OF ERROR RATES IN LARGE-SCALE GENOTYPING USING FLUORESCENTLY LABELED DINUCLEOTIDE MARKERS, PCR methods and applications, 7(2), 1997, pp. 165-178
IDENTIFICATION OF THE CHIMERIC PROTEIN PRODUCT OF THE CBFB-MYH11 FUSION GENE IN INV(16) LEUKEMIA-CELLS (VOL 16, PG 77, 1996)
Authors: PAUL LP WIJMENGA C HAJRA A BLAKE TB KELLEY CA ADELSTEIN RS BAGG A RECTOR J COTELLINGAM J WILLMAN CL COLLINS FS
Citation: Lp. Paul et al., IDENTIFICATION OF THE CHIMERIC PROTEIN PRODUCT OF THE CBFB-MYH11 FUSION GENE IN INV(16) LEUKEMIA-CELLS (VOL 16, PG 77, 1996), Genes, chromosomes & cancer, 18(1), 1997, pp. 71-71
CFTR ACTIVATION ADDITIVE EFFECTS OF STIMULATORY AND INHIBITORY PHOSPHORYLATION SITES IN THE R-DOMAIN
Authors: WILKINSON DJ STRONG TV MANSOURA MK WOOD DL SMITH SS COLLINS FS DAWSON DC
Citation: Dj. Wilkinson et al., CFTR ACTIVATION ADDITIVE EFFECTS OF STIMULATORY AND INHIBITORY PHOSPHORYLATION SITES IN THE R-DOMAIN, American journal of physiology. Lung cellular and molecular physiology, 17(1), 1997, pp. 127-133
GERMLINE MUTATIONS OF THE MEN1 GENE IN FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 AND RELATED STATES
Authors: AGARWAL SK KESTER MB DEBELENKO LV HEPPNER C EMMERTBUCK MR SKARULIS MC DOPPMAN JL KIM YS LUBENSKY IA ZHUANG ZP GREEN JS GURU SC MANICKAM P OLUFEMI SE LIOTTA LA CHANDRASEKHARAPPA SC COLLINS FS SPIEGEL AM BURNS AL MARX SJ
Citation: Sk. Agarwal et al., GERMLINE MUTATIONS OF THE MEN1 GENE IN FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 AND RELATED STATES, Human molecular genetics, 6(7), 1997, pp. 1169-1175
IDENTIFICATION OF MEN1 GENE-MUTATIONS IN SPORADIC CARCINOID-TUMORS OFTHE LUNG
Authors: DEBELENKO LV BRAMBILLA E AGARWAL SK SWALWELL JI KESTER MB LUBENSKY IA ZHUANG ZP GURU SC MANICKAM P OLUFEMI SE CHANDRASEKHARAPPA SC CRABTREE JS KIM YS HEPPNER C BURNS AL SPIEGEL AM MARX SJ LIOTTA LA COLLINS FS TRAVIS WD EMMERTBUCK MR
Citation: Lv. Debelenko et al., IDENTIFICATION OF MEN1 GENE-MUTATIONS IN SPORADIC CARCINOID-TUMORS OFTHE LUNG, Human molecular genetics, 6(13), 1997, pp. 2285-2290
CLONING OF THE HUMAN NADH - UBIQUINONE OXIDOREDUCTASE SUBUNIT B13 LOCALIZATION TO CHROMOSOME 7Q32 AND IDENTIFICATION OF A PSEUDOGENE ON 11P15
Authors: RUSSELL MW DUMANOIR S COLLINS FS BRODY LC
Citation: Mw. Russell et al., CLONING OF THE HUMAN NADH - UBIQUINONE OXIDOREDUCTASE SUBUNIT B13 LOCALIZATION TO CHROMOSOME 7Q32 AND IDENTIFICATION OF A PSEUDOGENE ON 11P15, Mammalian genome, 8(1), 1997, pp. 60-61
GENOME ANALYSIS AND CANCER SUSCEPTIBILITY
Authors: COLLINS FS
Citation: Fs. Collins, GENOME ANALYSIS AND CANCER SUSCEPTIBILITY, The FASEB journal, 11(9), 1997, pp. 2588-2588
A HIGH-RESOLUTION GENETIC-MAP OF THE FAMILIAL MEDITERRANEAN FEVER CANDIDATE REGION ALLOWS IDENTIFICATION OF HAPLOTYPE-SHARING AMONG ETHNIC-GROUPS
Authors: BALOW JE SHELTON DA ORSBORN A MANGELSDORF M AKSENTIJEVICH I BLAKE T SOOD R GARDNER D LIU R PRAS E LEVY EN CENTOLA M DENG ZM ZAKS N WOOD G CHEN XG RICHARDS N SHOHAT M LIVNEH A PRAS M DOGGETT NA COLLINS FS LIU PP ROTTER JI FISCHELGHODSIAN N GUMUCIO D RICHARDS RI KASTNER DL
Citation: Je. Balow et al., A HIGH-RESOLUTION GENETIC-MAP OF THE FAMILIAL MEDITERRANEAN FEVER CANDIDATE REGION ALLOWS IDENTIFICATION OF HAPLOTYPE-SHARING AMONG ETHNIC-GROUPS, Genomics, 44(3), 1997, pp. 280-291
A 2.8-MB CLONE CONTIG OF THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1) REGION AT 11Q13
Authors: GURU SC OLUFEMI SE MANICKAM P CUMMINGS C GIESER LM PIKE BL BITTNER ML JIANG Y CHINAULT AC NOWAK NJ BRZOZOWSKA A CRABTREE JS WANG YP ROE BA WEISEMANN JM BOGUSKI MS AGARWAL SK BURNS AL SPIEGEL AM MARX SJ FLEJTER WL DEJONG PJ COLLINS FS CHANDRASEKHARAPPA SC
Citation: Sc. Guru et al., A 2.8-MB CLONE CONTIG OF THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1) REGION AT 11Q13, Genomics, 42(3), 1997, pp. 436-445
CONSTRUCTION OF A 1-MB RESTRICTION-MAPPED COSMID CONTIG CONTAINING THE CANDIDATE REGION FOR THE FAMILIAL MEDITERRANEAN FEVER LOCUS (MEFV) ON CHROMOSOME 16P13.3
Authors: SOOD R BLAKE T AKSENTIJEVICH I WOOD G CHEN X GARDNER D SHELTON DA MANGELSDORF M ORSBORN A PRAS E BALOW JE CENTOLA M DENG ZM ZAKS N CHEN XG RICHARDS N FISCHELGHODSIAN N ROTTER JI PRAS M SHOHAT M DEAVEN LL GUMUCIO DL CALLEN DF RICHARDS RI COLLINS FS LIU PP KASTNER DL DOGGETT NA
Citation: R. Sood et al., CONSTRUCTION OF A 1-MB RESTRICTION-MAPPED COSMID CONTIG CONTAINING THE CANDIDATE REGION FOR THE FAMILIAL MEDITERRANEAN FEVER LOCUS (MEFV) ON CHROMOSOME 16P13.3, Genomics, 42(1), 1997, pp. 83-95
GENOTYPE-PHENOTYPE ANALYSIS IN KINDREDS WITH FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1)
Authors: HEPPNER C AGARWAL SK KESTER MB OLUFEMI SE GREEN JS SKARULIS MC KIM YS SAGGAR SK GURU SC MANICKAM P LUBENSKY IA ZHUANG Z CHANDRASEKHARAPPA SC COLLINS FS EMMERTBUCK MR LIOTTA LA SPIEGEL AM BURNS AL MARX SJ
Citation: C. Heppner et al., GENOTYPE-PHENOTYPE ANALYSIS IN KINDREDS WITH FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN1), Journal of bone and mineral research, 12, 1997, pp. 18-18
HAPLOTYPE ANALYSIS OF 11Q13 IN 27 KINDREDS WITH FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (FMEN1) AND MUTATION ANALYSIS OF THE MEN1 GENESHOW FOUNDER EFFECTS
Authors: KESTER MB AGARWAL SK EMMERTBUCK MR DEBELENKO LV GURU SC MANICKAM P OLUFEMI SE KIM YS HEPPNER C SAGGAR SK LUBENSKY IA LIOTTA LA CHANDRASEKHARAPPA SC COLLINS FS SPIEGEL AM BURNS AL MARX SJ
Citation: Mb. Kester et al., HAPLOTYPE ANALYSIS OF 11Q13 IN 27 KINDREDS WITH FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (FMEN1) AND MUTATION ANALYSIS OF THE MEN1 GENESHOW FOUNDER EFFECTS, Journal of bone and mineral research, 12, 1997, pp. 318-318
MUTATIONAL ANALYSIS OF MEN1 CANDIDATE GENES BY DIDEOXY FINGERPRINTING
Authors: AGARWAL SK GURU SC KESTER MB BURNS AL KIM YS OLUFEMI SE CRABTREE JS WANG Y EMMERTBUCK MR DEBELENKO LV WEISEMANN JM HEPPNER C MANICKAM P SAGGAR SK LIOTTA LA ROE BA BOGUSKI MS SPIEGEL AM COLLINS FS CHANDRASEKHARAPPA SC MARX SJ
Citation: Sk. Agarwal et al., MUTATIONAL ANALYSIS OF MEN1 CANDIDATE GENES BY DIDEOXY FINGERPRINTING, Journal of bone and mineral research, 12, 1997, pp. 660-660
18 NEW POLYMORPHIC MARKERS IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1(MEN1) REGION
Authors: MANICKAM P GURU SC DEBELENKO LV AGARWAL SK OLUFEMI SE WEISEMANN JM BOGUSKI MS CRABTREE JS WANG YP ROE BA LUBENSKY IA ZHUANG ZP KESTER MB BURNS AL SPIEGEL AM MARX SJ LIOTTA LA EMMERTBUCK MR COLLINS FS CHANDRASEKHARAPPA SC
Citation: P. Manickam et al., 18 NEW POLYMORPHIC MARKERS IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1(MEN1) REGION, Human genetics, 101(1), 1997, pp. 102-108
CHARACTERISTICS OF PROSTATE-CANCER IN FAMILIES POTENTIALLY LINKED TO THE HEREDITARY PROSTATE-CANCER-1 (HPC1) LOCUS
Authors: GRONBERG H ISAACS SD SMITH JR CARPTEN JD BOVA GS FREIJE D XU JF MEYERS DA COLLINS FS TRENT JM WALSH PC ISAACS WB
Citation: H. Gronberg et al., CHARACTERISTICS OF PROSTATE-CANCER IN FAMILIES POTENTIALLY LINKED TO THE HEREDITARY PROSTATE-CANCER-1 (HPC1) LOCUS, JAMA, the journal of the American Medical Association, 278(15), 1997, pp. 1251-1255
PREPARING HEALTH-PROFESSIONALS FOR THE GENETIC REVOLUTION
Authors: COLLINS FS
Citation: Fs. Collins, PREPARING HEALTH-PROFESSIONALS FOR THE GENETIC REVOLUTION, JAMA, the journal of the American Medical Association, 278(15), 1997, pp. 1285-1286
ANCIENT MISSENSE MUTATIONS IN A NEW MEMBER OF THE RORET GENE FAMILY ARE LIKELY TO CAUSE FAMILIAL MEDITERRANEAN FEVER
Authors: AKSENTIJEVICH I CENTOLA M DENG ZM SOOD R BALOW JE WOOD G ZAKS N MANSFIELD E CHEN X EISENBERG S VEDULA A SHAFRAN N RABEN N PRAS E PRAS M KASTNER DL BLAKE T BAXEVANIS AD ROBBINS C KRIZMAN D COLLINS FS LIU PP CHEN XG SHOHAT M HAMON M KAHAN T CERCEK A ROTTER JI FISCHELGHODSIAN N RICHARDS N SHELTON DA GUMUCIO D YOKOYAMA Y MANGELSDORF M ORSBORN A RICHARDS RI RICKE DO BUCKINGHAM JM MOYZIS RK DEAVEN LL DOGGETT NA
Citation: I. Aksentijevich et al., ANCIENT MISSENSE MUTATIONS IN A NEW MEMBER OF THE RORET GENE FAMILY ARE LIKELY TO CAUSE FAMILIAL MEDITERRANEAN FEVER, Cell, 90(4), 1997, pp. 797-807
VARIATIONS ON A THEME - CATALOGING HUMAN DNA-SEQUENCE VARIATION
Authors: COLLINS FS GUYER MS CHAKRAVARTI A
Citation: Fs. Collins et al., VARIATIONS ON A THEME - CATALOGING HUMAN DNA-SEQUENCE VARIATION, Science, 278(5343), 1997, pp. 1580-1581
DIABETES PROJECT
Authors: DUNSTON GM AKINSETE O COLLINS FS
Citation: Gm. Dunston et al., DIABETES PROJECT, Science, 276(5315), 1997, pp. 1013-1013
POSITIONAL CLONING OF THE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA-TYPE-1
Authors: CHANDRASEKHARAPPA SC GURU SC MANICKAM P OLUFEMI SE COLLINS FS EMMERTBUCK MR DEBELENKO LV ZHUANG ZP LUBENSKY IA LIOTTA LA CRABTREE JS WANG YP ROE BA WEISEMANN J BOGUSKI MS AGARWAL SK KESTER MB KIM YS HEPPNER C DONG QH SPIEGEL AM BURNS AL MARX SJ
Citation: Sc. Chandrasekharappa et al., POSITIONAL CLONING OF THE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA-TYPE-1, Science, 276(5311), 1997, pp. 404-407
THE ATAXIA-TELANGIECTASIA GENE-PRODUCT, A CONSTITUTIVELY EXPRESSED NUCLEAR-PROTEIN THAT IS NOT UP-REGULATED FOLLOWING GENOME DAMAGE
Authors: BROWN KD ZIV Y SADANANDAN SN CHESSA L COLLINS FS SHILOH Y TAGLE DA
Citation: Kd. Brown et al., THE ATAXIA-TELANGIECTASIA GENE-PRODUCT, A CONSTITUTIVELY EXPRESSED NUCLEAR-PROTEIN THAT IS NOT UP-REGULATED FOLLOWING GENOME DAMAGE, Proceedings of the National Academy of Sciences of the United Statesof America, 94(5), 1997, pp. 1840-1845
CHARACTERIZATION OF THE CHD FAMILY OF PROTEINS
Authors: WOODAGE T BASRAI MA BAXEVANIS AD HIETER P COLLINS FS
Citation: T. Woodage et al., CHARACTERIZATION OF THE CHD FAMILY OF PROTEINS, Proceedings of the National Academy of Sciences of the United Statesof America, 94(21), 1997, pp. 11472-11477
HUMAN BRCA1 INHIBITS GROWTH IN YEAST - POTENTIAL USE IN DIAGNOSTIC TESTING
Authors: HUMPHREY JS SALIM A ERDOS MR COLLINS FS BRODY LC KLAUSNER RD
Citation: Js. Humphrey et al., HUMAN BRCA1 INHIBITS GROWTH IN YEAST - POTENTIAL USE IN DIAGNOSTIC TESTING, Proceedings of the National Academy of Sciences of the United Statesof America, 94(11), 1997, pp. 5820-5825
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