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Results: 1-25 | 26-50 | 51-55
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SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: BRAIS B BOUCHARD JP XIE YG ROCHEFORT DL CHRETIEN N TOME FMS LAFRENIERE RG ROMMENS JM UYAMA E NOHIRA O BLUMEN S KORCYN AD HEUTINK P MATHIEU J DURANCEAU A CODERE F FARDEAU M ROULEAU GA
Citation: B. Brais et al., SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Nature genetics, 18(2), 1998, pp. 164-167
GENERATION OF A TRANSCRIPTION MAP OF A 1 MBASE REGION CONTAINING THE HFE GENE (6P22)
Authors: TOTARO A ROETTO A ROMMENS JM GRIFA A CARELLA M DAGRUMA L VALENTINO MA DAMBROSIO L CICILANO M CAMASCHELLA C FRANCO B GASPARINI P
Citation: A. Totaro et al., GENERATION OF A TRANSCRIPTION MAP OF A 1 MBASE REGION CONTAINING THE HFE GENE (6P22), European journal of human genetics, 6(2), 1998, pp. 105-113
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
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
POSITIONAL CLONING OF ZNF217 AND NABC1 - GENES AMPLIFIED AT 20Q13.2 AND OVEREXPRESSED IN BREAST-CARCINOMA
Authors: COLLINS C ROMMENS JM KOWBEL D GODFREY T TANNER M HWANG S POLIKOFF D NONET G COCHRAN J MYAMBO K JAY KE FROULA J CLOUTIER T KUO WL YASWEN P DAIRKEE S GIOVANOLA J HUTCHINSON GB ISOLA J KALLIONIEMI OP PALAZZOLO M MARTIN C ERICSSON C PINKEL D ALBERTSON D LI WB GRAY JW
Citation: C. Collins et al., POSITIONAL CLONING OF ZNF217 AND NABC1 - GENES AMPLIFIED AT 20Q13.2 AND OVEREXPRESSED IN BREAST-CARCINOMA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(15), 1998, pp. 8703-8708
CONTRIBUTION OF CLC-2 TO INTESTINAL CL- SECRETION IN THE GASTROINTESTINAL-TRACT OF CYSTIC-FIBROSIS MICE
Authors: GYOMOREY K YEGER H ROZMAHEL R GALLEY KA GARAMI E RAMJEESINGH M ROMMENS JM TSUI LC BEAR CE
Citation: K. Gyomorey et al., CONTRIBUTION OF CLC-2 TO INTESTINAL CL- SECRETION IN THE GASTROINTESTINAL-TRACT OF CYSTIC-FIBROSIS MICE, The Journal of general physiology, 112(1), 1998, pp. 67-67
CLONING OF A NEW GENE (FB19) WITHIN HLA CLASS-I REGION
Authors: TOTARO A GRIFA A CARELLA M ROMMENS JM VALENTINO MA ROETTO A ZELANTE L GASPARINI P
Citation: A. Totaro et al., CLONING OF A NEW GENE (FB19) WITHIN HLA CLASS-I REGION, Biochemical and biophysical research communications (Print), 250(3), 1998, pp. 555-557
GABA (GAMMA-AMINOBUTYRIC-ACID) NEUROTRANSMISSION - IDENTIFICATION ANDFINE MAPPING OF THE HUMAN GABA(B) RECEPTOR GENE
Authors: GRIFA A TOTARO A ROMMENS JM CARELLA M ROETTO A BORGATO L ZELANTE L GASPARINI P
Citation: A. Grifa et al., GABA (GAMMA-AMINOBUTYRIC-ACID) NEUROTRANSMISSION - IDENTIFICATION ANDFINE MAPPING OF THE HUMAN GABA(B) RECEPTOR GENE, Biochemical and biophysical research communications (Print), 250(2), 1998, pp. 240-245
UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1
Authors: LAFRENIERE RG ROCHEFORT DL CHRETIEN N ROMMENS JM COCHIUS JI KALVIAINEN R NOUSIAINEN U PATRY G FARRELL K SODERFELDT B FEDERICO A HALE BR COSSIO OH SORENSEN T POULIOT MA KMIEC T ULDALL P JANSZKY J PRANZATELLI MR ANDERMANN F ANDERMANN E ROULEAU GA
Citation: Rg. Lafreniere et al., UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1, Nature genetics, 15(3), 1997, pp. 298-302
DE-NOVO TRUNCATING MUTATIONS IN E6-AP UBIQUITIN-PROTEIN LIGASE GENE (UBE3A) IN ANGELMAN SYNDROME
Authors: MATSUURA T SUTCLIFFE JS FANG P GALJAARD RJ JIANG YH BENTON CS ROMMENS JM BEAUDET AL
Citation: T. Matsuura et al., DE-NOVO TRUNCATING MUTATIONS IN E6-AP UBIQUITIN-PROTEIN LIGASE GENE (UBE3A) IN ANGELMAN SYNDROME, Nature genetics, 15(1), 1997, pp. 74-77
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
AMPLIFICATION OF CFTR EXON-9 SEQUENCES TO MULTIPLE LOCATIONS IN THE HUMAN GENOME
Authors: ROZMAHEL R HENG HHQ DUNCAN AMV SHI XM ROMMENS JM TSUI LC
Citation: R. Rozmahel et al., AMPLIFICATION OF CFTR EXON-9 SEQUENCES TO MULTIPLE LOCATIONS IN THE HUMAN GENOME, Genomics, 45(3), 1997, pp. 554-561
PHYSICAL AND TRANSCRIPTION MAP IN THE REGION 14Q24.3 - IDENTIFICATIONOF 6 NOVEL TRANSCRIPTS
Authors: ROUX AF ROMMENS JM READ L DUNCAN AMV COX DW
Citation: Af. Roux et al., PHYSICAL AND TRANSCRIPTION MAP IN THE REGION 14Q24.3 - IDENTIFICATIONOF 6 NOVEL TRANSCRIPTS, Genomics, 43(2), 1997, pp. 130-140
THE XRCC2 DNA-REPAIR GENE - IDENTIFICATION OF A POSITIONAL CANDIDATE
Authors: TAMBINI CE GEORGE AM ROMMENS JM TSUI LC SCHERER SW THACKER J
Citation: Ce. Tambini et al., THE XRCC2 DNA-REPAIR GENE - IDENTIFICATION OF A POSITIONAL CANDIDATE, Genomics, 41(1), 1997, pp. 84-92
ANALYSIS OF THE 5' SEQUENCE, GENOMIC STRUCTURE, AND ALTERNATIVE SPLICING OF THE PRESENILIN-1 GENE (PSEN1) ASSOCIATED WITH EARLY-ONSET ALZHEIMER-DISEASE
Authors: ROGAEV EI SHERRINGTON R WU C LEVESQUE G LIANG Y ROGAEVA EA IKEDA M HOLMAN K LIN C LUKIW WJ DEJONG PJ FRASER PE ROMMENS JM STGEORGEHYSLOP P
Citation: Ei. Rogaev et al., ANALYSIS OF THE 5' SEQUENCE, GENOMIC STRUCTURE, AND ALTERNATIVE SPLICING OF THE PRESENILIN-1 GENE (PSEN1) ASSOCIATED WITH EARLY-ONSET ALZHEIMER-DISEASE, Genomics, 40(3), 1997, pp. 415-424
MAPPING OF THE RAS-GRF2 GENE (GRF2) TO MOUSE CHROMOSOME 13C3-D1 AND HUMAN-CHROMOSOME 5Q13, NEAR THE RES-GAP GENE
Authors: FAM NP ZHANG LJ ROMMENS JM BEATTY BG MICHAEL MF
Citation: Np. Fam et al., MAPPING OF THE RAS-GRF2 GENE (GRF2) TO MOUSE CHROMOSOME 13C3-D1 AND HUMAN-CHROMOSOME 5Q13, NEAR THE RES-GAP GENE, Genomics, 39(1), 1997, pp. 118-120
GENOMIC STRUCTURE OF THE HUMAN GT334 (EHOC-1) GENE-MAPPING TO 21Q22.3
Authors: LAFRENIERE RG KIBAR Z ROCHEFORT DL HAN FY FON EA DUBE MP KANG XL BAIRD S KORNELUK RG ROMMENS JM ROULEAU GA
Citation: Rg. Lafreniere et al., GENOMIC STRUCTURE OF THE HUMAN GT334 (EHOC-1) GENE-MAPPING TO 21Q22.3, Gene, 198(1-2), 1997, pp. 313-321
TRUNCATING MUTATIONS IN E6-AP UBIQUITIN PROTEIN LIGASE (UBE3A) CAUSE SPORADIC AND INHERITED ANGELMAN-SYNDROME
Authors: BENTON CS BEAUDET AL MATSUURA T FANG P TSAI TF GALJAARD RJ JIANG Y ROMMENS JM MEIJERSHEIJBOER EJ HALLEY DJ SUTCLIFFE JS
Citation: Cs. Benton et al., TRUNCATING MUTATIONS IN E6-AP UBIQUITIN PROTEIN LIGASE (UBE3A) CAUSE SPORADIC AND INHERITED ANGELMAN-SYNDROME, Neurology, 48(6), 1997, pp. 1-1
PERMEABILITY OF WILD-TYPE AND MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR CHLORIDE CHANNELS TO POLYATOMIC ANIONS
Authors: LINSDELL P TABCHARANI JA ROMMENS JM HOU YX CHANG XB TSUI LC RIORDAN JR HANRAHAN JW
Citation: P. Linsdell et al., PERMEABILITY OF WILD-TYPE AND MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR CHLORIDE CHANNELS TO POLYATOMIC ANIONS, The Journal of general physiology, 110(4), 1997, pp. 355-364
IDENTIFICATION, MAPPING AND CHARACTERIZATION OF NEW GENES IN THE DISTAL REGION OF CHROMOSOME-14 (14Q32-TER)
Authors: KRAUS B MCFADYEN D BILLINGSLEY GD ROMMENS JM COX DW
Citation: B. Kraus et al., IDENTIFICATION, MAPPING AND CHARACTERIZATION OF NEW GENES IN THE DISTAL REGION OF CHROMOSOME-14 (14Q32-TER), American journal of human genetics, 61(4), 1997, pp. 1381-1381
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
EPISOMAL EXPRESSION OF WILD-TYPE CFTR CORRECTS CAMP-DEPENDENT CHLORIDE TRANSPORT IN RESPIRATORY EPITHELIAL-CELLS
Authors: LEI DC KUNZELMANN K KOSLOWSKY T YEZZI MJ ESCOBAR LC XU Z ELLISON AR ROMMENS JM TSUI LC TYKOCINSKI M GRUENERT DC
Citation: Dc. Lei et al., EPISOMAL EXPRESSION OF WILD-TYPE CFTR CORRECTS CAMP-DEPENDENT CHLORIDE TRANSPORT IN RESPIRATORY EPITHELIAL-CELLS, Gene therapy, 3(5), 1996, pp. 427-436
ALZHEIMERS-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-2 IS RARE AND VARIABLY PENETRANT
Authors: SHERRINGTON R FROELICH S SORBI S CAMPION D CHI H ROGAEVA EA LEVESQUE G ROGAEV EI LIN C LIANG Y IKEDA M MAR L BRICE A AGID Y PERCY ME CLERGETDARPOUX F PIACENTINI S MARCON G NACMIAS B AMADUCCI L FREBOURG T LANNFELT L ROMMENS JM STGEORGEHYSLOP PH
Citation: R. Sherrington et al., ALZHEIMERS-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-2 IS RARE AND VARIABLY PENETRANT, Human molecular genetics, 5(7), 1996, pp. 985-988
CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT
Authors: CRACKOWER MA SCHERER SW ROMMENS JM HUI CC POORKAJ P SODER S COBBEN JM HUDGINS L EVANS JP TSUI LC
Citation: Ma. Crackower et al., CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT, Human molecular genetics, 5(5), 1996, pp. 571-579
ISOLATION AND CHARACTERIZATION OF GT335, A NOVEL HUMAN GENE CONSERVEDIN ESCHERICHIA-COLI AND MAPPING TO 21Q22.3
Authors: LAFRENIERE RG ROCHEFORT DL KIBAR Z FON EA HAN FY COCHIUS J KANG X BAIRD S KORNELUK RG ANDERMANN E ROMMENS JM ROULEAU GA
Citation: Rg. Lafreniere et al., ISOLATION AND CHARACTERIZATION OF GT335, A NOVEL HUMAN GENE CONSERVEDIN ESCHERICHIA-COLI AND MAPPING TO 21Q22.3, Genomics, 38(3), 1996, pp. 264-272
Risultati: 1-25 | 26-50 | 51-55