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Results: 1-21 |
Results: 21
GENOMIC DNA-SEQUENCE OF RHESUS (M-MULATTA) CYSTIC-FIBROSIS (CFTR) GENE
Authors: WINE JJ GLAVAC D HURLOCK G ROBINSON C LEE M POTOCNIK U RAVNIKGLAVAC M DEAN M
Citation: Jj. Wine et al., GENOMIC DNA-SEQUENCE OF RHESUS (M-MULATTA) CYSTIC-FIBROSIS (CFTR) GENE, Mammalian genome, 9(4), 1998, pp. 301-305
PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL-CELL CARCINOMA IN VON-HIPPEL-LINDAU-DISEASE COMPARED TO SPORADIC RENAL-CELL CARCINOMA
Authors: NEUMANN HPH BENDER BU BERGER DP LAUBENBERGER J SCHULTZESEEMANN W WETTERAUER U FERSTL FJ HERBST EW SCHWARZKOPF G HES FJ LIPS CJM LAMIELL JM MASEK O RIEGLER P MUELLER B GLAVAC D BRAUCH H
Citation: Hph. Neumann et al., PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL-CELL CARCINOMA IN VON-HIPPEL-LINDAU-DISEASE COMPARED TO SPORADIC RENAL-CELL CARCINOMA, The Journal of urology, 160(4), 1998, pp. 1248-1254
DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES
Authors: STEPHENS JC REICH DE GOLDSTEIN DB SHIN HD SMITH MW CARRINGTON M WINKLER C HUTTLEY GA ALLIKMETS R SCHRIML L GERRARD B MALASKY M RAMOS MD MORLOT S TZETIS M ODDOUX C DIGIOVINE FS NASIOULAS G CHANDLER D ASEEV M HANSON M KALAYDJIEVA L GLAVAC D GASPARINI P KANAVAKIS E CLAUSTRES M KAMBOURIS M OSTRER H DUFF G BARANOV V SIBUL H METSPALU A GOLDMAN D MARTIN N DUFFY D SCHMIDTKE J ESTIVILL X OBRIEN SJ DEAN M
Citation: Jc. Stephens et al., DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES, American journal of human genetics, 62(6), 1998, pp. 1507-1515
A NOVEL IN FRAME DELETION OF CODONS 188-190 IN THE HMSH2 GENE OF A SLOVENIAN PATIENT WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER
Authors: RAVNIKGLAVAC M POTOCNIK U KOZELJ M KRIZMAN I GLAVAC D
Citation: M. Ravnikglavac et al., A NOVEL IN FRAME DELETION OF CODONS 188-190 IN THE HMSH2 GENE OF A SLOVENIAN PATIENT WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER, Human heredity, 48(5), 1998, pp. 285-287
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
GERMLINE MUTATIONS IN THE VON-HIPPEL-LINDAU DISEASE (VHL) GENE IN FAMILIES FROM NORTH-AMERICA, EUROPE, AND JAPAN
Authors: ZBAR B KISHIDA T CHEN F SCHMIDT L MAHER ER RICHARDS FM CROSSEY PA WEBSTER AR AFFARA NA FERGUSONSMITH MA BRAUCH H GLAVAC D NEUMANN HPH TISHERMAN S MULVIHILL JJ GROSS DJ SHUIN T WHALEY J SEIZINGER B KLEY N OLSCHWANG S BOISSON C RICHARD S LIPS CHM LINEHAN WM LERMAN M
Citation: B. Zbar et al., GERMLINE MUTATIONS IN THE VON-HIPPEL-LINDAU DISEASE (VHL) GENE IN FAMILIES FROM NORTH-AMERICA, EUROPE, AND JAPAN, Human mutation, 8(4), 1996, pp. 348-357
MUTATIONS IN THE VHL TUMOR-SUPPRESSOR GENE AND ASSOCIATED LESIONS IN FAMILIES WITH VON-HIPPEL-LINDAU DISEASE FROM CENTRAL-EUROPE
Authors: GLAVAC D NEUMANN HPH WITTKE C JAENIG H MASEK O STREICHER T PAUSCH F ENGELHARDT D PLATE KH HOFLER H CHEN F ZBAR B BRAUCH H
Citation: D. Glavac et al., MUTATIONS IN THE VHL TUMOR-SUPPRESSOR GENE AND ASSOCIATED LESIONS IN FAMILIES WITH VON-HIPPEL-LINDAU DISEASE FROM CENTRAL-EUROPE, Human genetics, 98(3), 1996, pp. 271-280
APPLICATIONS OF HETERODUPLEX ANALYSIS FOR MUTATION DETECTION IN DISEASE GENES
Authors: GLAVAC D DEAN M
Citation: D. Glavac et M. Dean, APPLICATIONS OF HETERODUPLEX ANALYSIS FOR MUTATION DETECTION IN DISEASE GENES, Human mutation, 6(4), 1995, pp. 281-287
GERMLINE MUTATIONS IN THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE - CORRELATIONS WITH PHENOTYPE
Authors: CHEN F KISHIDA T YAO M HUSTAD T GLAVAC D DEAN M GNARRA JR ORCUTT ML DUH FM GLENN G GREEN J HSIA YE LAMIELL J LI H WEI MH SCHMIDT L TORY K KUZMIN I STACKHOUSE T LATIF F LINEHAN WM LERMAN M ZBAR B
Citation: F. Chen et al., GERMLINE MUTATIONS IN THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE - CORRELATIONS WITH PHENOTYPE, Human mutation, 5(1), 1995, pp. 66-75
GERMLINE MUTATIONS IN 25 CENTRAL-EUROPEAN FAMILIES WITH VONHIPPEL-LINDAU-SYNDROME-ASSOCIATED RENAL-CELL CARCINOMA
Authors: ZAUNER I BRAUCH H ZBAR B GLAVAC D RIEGLER P MASEK O LIPS CJM NEUMANN HPH
Citation: I. Zauner et al., GERMLINE MUTATIONS IN 25 CENTRAL-EUROPEAN FAMILIES WITH VONHIPPEL-LINDAU-SYNDROME-ASSOCIATED RENAL-CELL CARCINOMA, Journal of the American Society of Nephrology, 6(3), 1995, pp. 716-716
CHARACTERIZATION AND MAPPING OF 3 NEW MAMMALIAN ATP-BINDING TRANSPORTER GENES FROM AN EST DATABASE
Authors: ALLIKMETS R GERRARD B GLAVAC D RAVNIKGLAVAC M JENKINS NA GILBERT DJ COPELAND NG MODI W DEAN M
Citation: R. Allikmets et al., CHARACTERIZATION AND MAPPING OF 3 NEW MAMMALIAN ATP-BINDING TRANSPORTER GENES FROM AN EST DATABASE, Mammalian genome, 6(2), 1995, pp. 114-117
VON HIPPEL-LINDAU (VHL) DISEASE WITH PHEOCHROMOCYTOMA IN THE BLACK-FOREST REGION OF GERMANY - EVIDENCE FOR A FOUNDER EFFECT
Authors: BRAUCH H KISHIDA T GLAVAC D CHEN F PAUSCH F HOFLER H LATIF F LERMAN MI ZBAR B NEUMANN HPH
Citation: H. Brauch et al., VON HIPPEL-LINDAU (VHL) DISEASE WITH PHEOCHROMOCYTOMA IN THE BLACK-FOREST REGION OF GERMANY - EVIDENCE FOR A FOUNDER EFFECT, Human genetics, 95(5), 1995, pp. 551-556
CONSEQUENCES OF DIRECT GENETIC TESTING FOR GERMLINE MUTATIONS IN THE CLINICAL MANAGEMENT OF FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA, TYPE-II
Authors: NEUMANN HPH ENG C MULLIGAN LM GLAVAC D ZAUNER I PONDER BAJ CROSSEY PA MAHER ER BRAUCH H
Citation: Hph. Neumann et al., CONSEQUENCES OF DIRECT GENETIC TESTING FOR GERMLINE MUTATIONS IN THE CLINICAL MANAGEMENT OF FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA, TYPE-II, JAMA, the journal of the American Medical Association, 274(14), 1995, pp. 1149-1151
SCREENING FOR CF MUTATIONS IN ADULT CYSTIC-FIBROSIS PATIENTS WITH A DIRECTED AND OPTIMIZED SSCP STRATEGY
Authors: RAVNIKGLAVAC M GLAVAC D CHERNICK M DISANTAGNESE P DEAN M
Citation: M. Ravnikglavac et al., SCREENING FOR CF MUTATIONS IN ADULT CYSTIC-FIBROSIS PATIENTS WITH A DIRECTED AND OPTIMIZED SSCP STRATEGY, Human mutation, 3(3), 1994, pp. 231-238
GERM-LINE MUTATIONS IN RENAL-CELL CARCINOMA (RCC) ASSOCIATED WITH VONHIPPEL-LINDAU DISEASE (VHL)
Authors: NEUMANN HPH PAUSCH F GLAVAC D BRAUCH H
Citation: Hph. Neumann et al., GERM-LINE MUTATIONS IN RENAL-CELL CARCINOMA (RCC) ASSOCIATED WITH VONHIPPEL-LINDAU DISEASE (VHL), Journal of the American Society of Nephrology, 5(3), 1994, pp. 632-632
SENSITIVITY OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX METHOD FOR MUTATION DETECTION IN THE CYSTIC-FIBROSIS GENE
Authors: RAVNIKGLAVAC M GLAVAC D DEAN M
Citation: M. Ravnikglavac et al., SENSITIVITY OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX METHOD FOR MUTATION DETECTION IN THE CYSTIC-FIBROSIS GENE, Human molecular genetics, 3(5), 1994, pp. 801-807
POLYMORPHISMS IN THE 3' UNTRANSLATED REGION OF THE I-KAPPA-B MAD-3 (NFKBI)GENE LOCATED ON CHROMOSOME-14/
Authors: GLAVAC D RAVNIKGLAVAC M OBRIEN SJ DEAN M
Citation: D. Glavac et al., POLYMORPHISMS IN THE 3' UNTRANSLATED REGION OF THE I-KAPPA-B MAD-3 (NFKBI)GENE LOCATED ON CHROMOSOME-14/, Human genetics, 93(6), 1994, pp. 694-696
OPTIMIZATION OF THE SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE FOR DETECTION OF POINT MUTATIONS
Authors: GLAVAC D DEAN M
Citation: D. Glavac et M. Dean, OPTIMIZATION OF THE SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE FOR DETECTION OF POINT MUTATIONS, Human mutation, 2(5), 1993, pp. 404-414
SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS OF THE CFTR GENE IN SLOVENIAN CYSTIC-FIBROSIS PATIENTS - DETECTION OF MUTATIONS AND SEQUENCE VARIATIONS
Authors: RAVNIKGLAVAC M GLAVAC D KOMEL R DEAN M
Citation: M. Ravnikglavac et al., SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS OF THE CFTR GENE IN SLOVENIAN CYSTIC-FIBROSIS PATIENTS - DETECTION OF MUTATIONS AND SEQUENCE VARIATIONS, Human mutation, 2(4), 1993, pp. 286-292
IDENTIFICATION OF THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE
Authors: LATIF F TORY K GNARRA J YAO M DUH FM ORCUTT ML STACKHOUSE T KUZMIN I MODI W GEIL L SCHMIDT L ZHOU FW LI H WEI MH CHEN F GLENN G CHOYKE P WALTHER MM WENG YK DUAN DSR DEAN M GLAVAC D RICHARDS FM CROSSEY PA FERGUSONSMITH MA LEPASLIER D CHUMAKOV I COHEN D CHINAULT AC MAHER ER LINEHAN WM ZBAR B LERMAN MI
Citation: F. Latif et al., IDENTIFICATION OF THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE, Science, 260(5112), 1993, pp. 1317-1320
FREQUENT GERMLINE AND SPORADIC RENAL-CELL CARCINOMA MUTATIONS IN VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE
Authors: LATIF F GNARRA J TORY K YAO M DUH FM CHEN F DEAN M GLAVAC D MAHER ER LINEHAN WM LERMAN MI ZBAR B
Citation: F. Latif et al., FREQUENT GERMLINE AND SPORADIC RENAL-CELL CARCINOMA MUTATIONS IN VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE, American journal of human genetics, 53(3), 1993, pp. 318-318
Risultati: 1-21 |