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Results: 1-25 | 26-50 | 51-75 | 76-95
Results: 1-25/95
A GENE ENCODING A TRANSMEMBRANE PROTEIN IS MUTATED IN PATIENTS WITH DIABETES-MELLITUS AND OPTIC ATROPHY (WOLFRAM-SYNDROME)
Authors: INOUE H TANIZAWA Y WASSON J BEHN P KALIDAS K BERNALMIZRACHI E MUECKLER M MARSHALL H DONISKELLER H CROCK P ROGERS D MIKUNI M KUMASHIRO H HIGASHI K SOBUE G OKA Y PERMUTT MA
Citation: H. Inoue et al., A GENE ENCODING A TRANSMEMBRANE PROTEIN IS MUTATED IN PATIENTS WITH DIABETES-MELLITUS AND OPTIC ATROPHY (WOLFRAM-SYNDROME), Nature genetics, 20(2), 1998, pp. 143-148
A TRANSMISSION DISEQUILIBRIUM AND LINKAGE ANALYSIS OF D22S278 MARKER ALLELES IN 574 FAMILIES - FURTHER SUPPORT FOR A SUSCEPTIBILITY LOCUS FOR SCHIZOPHRENIA AT 22Q12
Authors: VALLADA H CURTIS D SHAM P KUNUGI H ZHAO JH MURRAY R MCGUFFIN P NANKO S OWEN M GILL M COLLIER DA ANTONARAKIS S HOUSMAN D KAZAZIAN H NESTADT G PULVER AE STRAUB RE MACLEAN CJ WALSH D KENDLER KS DELISI L POLYMEROPOULOS M COON H BYERLEY W LOFTHOUSE R GERSHON E GOLDIN L FREEDMAN R LAURENT C BODEAUPEAN S DAMATO T JAY M CAMPION D MALLET J WILDENAUER DB LERER B ALBUS M ACKENHEIL M EBSTEIN RP HALLMAYER J MAIER W GURLING H CURTIS D KALSI G BRYNJOLFSSON J SIGMUNDSON T PETURSSON H BLACKWOOD D MURI W STCLAIR D HE L MAGUIRE S MOISES HW HWU HG YANG L WIESE C KRISTBJARNARSON H LEVINSON DF MOWRY BJ DONISKELLER H HAYWARD NK CROWE RR SILVERMAN JM NANCARROW DJ READ CM
Citation: H. Vallada et al., A TRANSMISSION DISEQUILIBRIUM AND LINKAGE ANALYSIS OF D22S278 MARKER ALLELES IN 574 FAMILIES - FURTHER SUPPORT FOR A SUSCEPTIBILITY LOCUS FOR SCHIZOPHRENIA AT 22Q12, Schizophrenia research, 32(2), 1998, pp. 115-121
SUBREGIONAL LOCALIZATION OF 21 CHROMOSOME-7-SPECIFIC EXPRESSED SEQUENCE TAGS (EST) BY FISH USING NEWLY IDENTIFIED YAC AND P1
Authors: MORTON SM VEILE RA HELMS C LEE M KUO WL GRAY J DONISKELLER H
Citation: Sm. Morton et al., SUBREGIONAL LOCALIZATION OF 21 CHROMOSOME-7-SPECIFIC EXPRESSED SEQUENCE TAGS (EST) BY FISH USING NEWLY IDENTIFIED YAC AND P1, Genomics, 46(3), 1997, pp. 491-494
IDENTIFICATION OF A HUMAN LRMX1 (LMX1.1)-RELATED GENE, LMX1.2 - TISSUE-SPECIFIC EXPRESSION AND LINKAGE MAPPING ON CHROMOSOME-9
Authors: IANNOTTI CA INOUE H BERNAL E AOKI M LIU L DONISKELLER H GERMAN MS PERMUTT MA
Citation: Ca. Iannotti et al., IDENTIFICATION OF A HUMAN LRMX1 (LMX1.1)-RELATED GENE, LMX1.2 - TISSUE-SPECIFIC EXPRESSION AND LINKAGE MAPPING ON CHROMOSOME-9, Genomics, 46(3), 1997, pp. 520-524
HUMAN CHOLECYSTOKININ TYPE-A RECEPTOR GENE - CYTOGENETIC LOCALIZATION, PHYSICAL MAPPING, AND IDENTIFICATION OF 2 MISSENSE VARIANTS IN PATIENTS WITH OBESITY AND NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM)
Authors: INOUE H IANNOTTI CA WELLING CM VEILE R DONISKELLER H PERMUTT MA
Citation: H. Inoue et al., HUMAN CHOLECYSTOKININ TYPE-A RECEPTOR GENE - CYTOGENETIC LOCALIZATION, PHYSICAL MAPPING, AND IDENTIFICATION OF 2 MISSENSE VARIANTS IN PATIENTS WITH OBESITY AND NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM), Genomics, 42(2), 1997, pp. 331-335
ISOLATION, CHARACTERIZATION, AND CHROMOSOMAL MAPPING OF THE HUMAN NKX6.1 GENE (NKX6A), A NEW PANCREATIC-ISLET HOMEOBOX GENE
Authors: INOUE H RUDNICK A GERMAN MS VEILE R DONISKELLER H PERMUTT MA
Citation: H. Inoue et al., ISOLATION, CHARACTERIZATION, AND CHROMOSOMAL MAPPING OF THE HUMAN NKX6.1 GENE (NKX6A), A NEW PANCREATIC-ISLET HOMEOBOX GENE, Genomics, 40(2), 1997, pp. 367-370
FUNCTIONAL-CHARACTERIZATION OF AN EPIDERMAL GROWTH-FACTOR RECEPTOR RET CHIMERA
Authors: PANDIT SD OHARE T DONISKELLER H PIKE LJ
Citation: Sd. Pandit et al., FUNCTIONAL-CHARACTERIZATION OF AN EPIDERMAL GROWTH-FACTOR RECEPTOR RET CHIMERA, The Journal of biological chemistry, 272(4), 1997, pp. 2199-2206
MAPPING NOVEL PANCREATIC-ISLET GENES TO HUMAN-CHROMOSOMES
Authors: FERRER J WASSON J SCHOOR KD MUECKLER M DONISKELLER H PERMUTT MA
Citation: J. Ferrer et al., MAPPING NOVEL PANCREATIC-ISLET GENES TO HUMAN-CHROMOSOMES, Diabetes, 46(3), 1997, pp. 386-392
ST. LOUIS BREAST-CANCER TISSUE REGISTRY AND THE COOPERATIVE BREAST-CANCER TISSUE REGISTRY (CBCTR) - A COMBINED RESOURCE FOR MARKER VALIDATION STUDIES
Authors: MARSHALL HN MEYER J HELMS C DONISKELLER H
Citation: Hn. Marshall et al., ST. LOUIS BREAST-CANCER TISSUE REGISTRY AND THE COOPERATIVE BREAST-CANCER TISSUE REGISTRY (CBCTR) - A COMBINED RESOURCE FOR MARKER VALIDATION STUDIES, American journal of human genetics, 61(4), 1997, pp. 399-399
CHROMOSOME 8P DELETIONS IN DUCTAL CARCINOMA IN-SITU (DCIS) OF THE BREAST
Authors: WANG JC RADFORD D HOLT M HELMS C BRANDT W DONISKELLER H
Citation: Jc. Wang et al., CHROMOSOME 8P DELETIONS IN DUCTAL CARCINOMA IN-SITU (DCIS) OF THE BREAST, American journal of human genetics, 61(4), 1997, pp. 479-479
MAPPING HUMAN SUBTELOMERIC REGIONS WITH YACS CONTAINING HUMAN TELOMERE REPEATS
Authors: SUN Y HELMS C MARSHALL H VEILE R DONISKELLER H
Citation: Y. Sun et al., MAPPING HUMAN SUBTELOMERIC REGIONS WITH YACS CONTAINING HUMAN TELOMERE REPEATS, American journal of human genetics, 61(4), 1997, pp. 1059-1059
IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY
Authors: BELLONI E MUENKE M ROESSLER E TRAVERSO G SIEGELBARTELT J FRUMKIN A MITCHELL HF DONISKELLER H HELMS C HING AV HENG HHQ KOOP B MARTINDALE D ROMMENS JM TSUI LC SCHERER SW
Citation: E. Belloni et al., IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY, Nature genetics, 14(3), 1996, pp. 353-356
WILLIAMS-SYNDROME IS CHARACTERIZED BY 1 MEGABASE DELETIONS ON 7Q ENCOMPASSING THE ELASTIN GENE
Authors: URBAN Z HELMS C PEYROL S FEKETE G CSISZAR K BONNET D MUNNICH A DONISKELLER H BOYD CD
Citation: Z. Urban et al., WILLIAMS-SYNDROME IS CHARACTERIZED BY 1 MEGABASE DELETIONS ON 7Q ENCOMPASSING THE ELASTIN GENE, Matrix biology, 15(3), 1996, pp. 183-183
ISOLATED SUPRAVALVULAR AORTIC-STENOSIS IS CHARACTERIZED BY A SPECTRUMOF MUTATIONS WITHIN THE ELASTIN GENE
Authors: URBAN Z CSISZAR K DONISKELLER H THIBODEAU SN BOYD CD
Citation: Z. Urban et al., ISOLATED SUPRAVALVULAR AORTIC-STENOSIS IS CHARACTERIZED BY A SPECTRUMOF MUTATIONS WITHIN THE ELASTIN GENE, Matrix biology, 15(3), 1996, pp. 183-183
MAPPING HUMAN TELOMERE REGIONS WITH YAC AND P1 CLONES - CHROMOSOME-SPECIFIC MARKERS FOR 27 TELOMERES INCLUDING 149 STSS AND 24 POLYMORPHISMS FOR 14 PROTERMINAL REGIONS
Authors: VOCEROAKBANI A HELMS C WANG JC SANJURJO FJ KORTESARFATY J VEILE RA LIU L JAUCH A BURGESS AK HING AV HOLT MS RAMACHANDRA S WHELAN AJ ANKER R AHRENT L CHEN M GAVIN MR IANNANTUONI K MORTON SM PANDIT SD READ CM STEINBRUE J WARLICK C SMOLLER DA DONISKELLER H
Citation: A. Voceroakbani et al., MAPPING HUMAN TELOMERE REGIONS WITH YAC AND P1 CLONES - CHROMOSOME-SPECIFIC MARKERS FOR 27 TELOMERES INCLUDING 149 STSS AND 24 POLYMORPHISMS FOR 14 PROTERMINAL REGIONS, Genomics, 36(3), 1996, pp. 492-506
A COMBINED ANALYSIS OF D22S278 MARKER ALLELES IN AFFECTED SIB-PAIRS -SUPPORT FOR A SUSCEPTIBILITY LOCUS FOR SCHIZOPHRENIA AT CHROMOSOME 22Q12
Authors: GILL M VALLADA H COLLIER D SHAM P HOLMANS P MURRAY R MCGUFFIN P NANKO S OWEN M ANTONARAKIS S HOUSMAN D KAZAZIAN H NESTADT G PULVER AE STRAUB RE MACLEAN CJ WALSH D KENDLER KS DELISI L POLYMEROPOULOS M COON H BYERLEY W LOFTHOUSE R GERSHON E GOLDEN L CROW T FREEDMAN R LAURENT C BODEAUPEAN S DAMATO T JAY M CAMPION D MALLET J WILDENAUER DB LERER B ALBUS M ACKENHEIL M EBSTEIN RP HALLMAYER J MAIER W GURLING H CURTIS D KALSI G BRYNJOLFSSON J SIGMUNDSON T PETURSSON H BLACKWOOD D MUIR W STCLAIR D HE L MAGUIRE S MOISES HW HWU HG YANG L WIESE C TAO L LIU XH KRISTBJARNASON H LEVINSON DF MOWRY BJ DONISKELLER H HAYWARD NK CROWE RR SILVERMAN JM NANCARROW DJ READ CM
Citation: M. Gill et al., A COMBINED ANALYSIS OF D22S278 MARKER ALLELES IN AFFECTED SIB-PAIRS -SUPPORT FOR A SUSCEPTIBILITY LOCUS FOR SCHIZOPHRENIA AT CHROMOSOME 22Q12, American journal of medical genetics, 67(1), 1996, pp. 40-45
THE MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B POINT MUTATION ALTERS LONG-TERM REGULATION AND ENHANCES THE TRANSFORMING CAPACITY OF THE EPIDERMALGROWTH-FACTOR RECEPTOR
Authors: PANDIT SD DONISKELLER H IWAMOTO T TOMICH JM PIKE LJ
Citation: Sd. Pandit et al., THE MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B POINT MUTATION ALTERS LONG-TERM REGULATION AND ENHANCES THE TRANSFORMING CAPACITY OF THE EPIDERMALGROWTH-FACTOR RECEPTOR, The Journal of biological chemistry, 271(10), 1996, pp. 5850-5858
ISOLATION, CHARACTERIZATION, AND CHROMOSOMAL MAPPING OF THE HUMAN INSULIN PROMOTER FACTOR-1 (IPF-1) GENE
Authors: INOUE H RIGGS AC TANIZAWA Y UEDA K KUWANO A LIU L DONISKELLER H PERMUTT MA
Citation: H. Inoue et al., ISOLATION, CHARACTERIZATION, AND CHROMOSOMAL MAPPING OF THE HUMAN INSULIN PROMOTER FACTOR-1 (IPF-1) GENE, Diabetes, 45(6), 1996, pp. 789-794
IDENTIFICATION OF TRINUCLEOTIDE REPEAT-CONTAINING GENES IN HUMAN PANCREATIC-ISLETS
Authors: AOKI M KORANYI L RIGGS AC WASSON J CHIU KC VAXILLAIRE M FROGUEL P GOUGH S LIU L DONISKELLER H PERMUTT MA
Citation: M. Aoki et al., IDENTIFICATION OF TRINUCLEOTIDE REPEAT-CONTAINING GENES IN HUMAN PANCREATIC-ISLETS, Diabetes, 45(2), 1996, pp. 157-164
ALLELIC DELETION ON CHROMOSOME 17P13.3 IN EARLY OVARIAN-CANCER
Authors: PHILLIPS NJ ZIEGLER MR RADFORD DM FAIR KL STEINBRUECK T XYNOS FP DONISKELLER H
Citation: Nj. Phillips et al., ALLELIC DELETION ON CHROMOSOME 17P13.3 IN EARLY OVARIAN-CANCER, Cancer research, 56(3), 1996, pp. 606-611
HIGH-LEVELS OF LOSS AT THE 17P TELOMERE SUGGEST THE CLOSE PROXIMITY OF A TUMOR-SUPPRESSOR
Authors: WHITE GRM STACK M SANTIBANEZKOREF M LISCIA DS VENESIO T WANG JC HELMS C DONISKELLER H BETTICHER DC ALTERMATT HJ HOBAN PR HEIGHWAY J
Citation: Grm. White et al., HIGH-LEVELS OF LOSS AT THE 17P TELOMERE SUGGEST THE CLOSE PROXIMITY OF A TUMOR-SUPPRESSOR, British Journal of Cancer, 74(6), 1996, pp. 863-870
7Q11.23 DELETIONS IN WILLIAMS-SYNDROME ARISE AS A CONSEQUENCE OF UNEQUAL MEIOTIC CROSSOVER
Authors: URBAN Z HELMS C FEKETE G CSISZAR K BONNET D MUNNICH A DONISKELLER H BOYD CD
Citation: Z. Urban et al., 7Q11.23 DELETIONS IN WILLIAMS-SYNDROME ARISE AS A CONSEQUENCE OF UNEQUAL MEIOTIC CROSSOVER, American journal of human genetics, 59(4), 1996, pp. 958-962
ASSOCIATION BETWEEN PROSTATE-CANCER IN BLACK-AMERICANS AND AN ALLELE OF THE PADPRP PSEUDOGENE LOCUS ON CHROMOSOME-13
Authors: DOLL JA SUAREZ BK DONISKELLER H
Citation: Ja. Doll et al., ASSOCIATION BETWEEN PROSTATE-CANCER IN BLACK-AMERICANS AND AN ALLELE OF THE PADPRP PSEUDOGENE LOCUS ON CHROMOSOME-13, American journal of human genetics, 58(2), 1996, pp. 425-428
RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI JEWS
Authors: GLASER B CHIU KC LIU L ANKER R NESTOROWICZ A COX NJ LANDAU H KAISER N THORNTON PS STANLEY CA CERASI E BAKER L DONISKELLER H PERMUTT MA
Citation: B. Glaser et al., RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI JEWS, Human molecular genetics, 4(5), 1995, pp. 879-886
RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI-JEWS (VOL 4, PG 879, 1995)
Authors: GLASER B CHIU KC LIU L ANKER R NESTOROWICZ A COX NJ LANDAU H KAISER N THORNTON PS STANLEY CA CERASI E BAKER L DONISKELLER H PERMUTT MA
Citation: B. Glaser et al., RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CMREGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT INASHKENAZI-JEWS (VOL 4, PG 879, 1995), Human molecular genetics, 4(11), 1995, pp. 2187-2188
Risultati: 1-25 | 26-50 | 51-75 | 76-95