AAAAAA

   
Results: 1-25 | 26-50 | 51-64
Results: 1-25/64
A GENE ENCODING A LIVER-SPECIFIC ABC TRANSPORTER IS MUTATED IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
Authors: STRAUTNIEKS SS BULL LN KNISELY AS KOCOSHIS S DAHL N ARNELL H SOKAL E DAHAN K CHILDS S LING V TANNER MS KAGALWALLA AF NEMETH A PAWLOWSKA J BAKER A MIELIVERGANI G FREIMER NB GARDINER RM THOMPSON RJ
Citation: Ss. Strautnieks et al., A GENE ENCODING A LIVER-SPECIFIC ABC TRANSPORTER IS MUTATED IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, Nature genetics, 20(3), 1998, pp. 233-238
A NOVEL MUTATION (C201R) IN THE TRANSMEMBRANE DOMAIN OF CONNEXIN-32 IN SEVERE X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Authors: SILLEN A ANNEREN G DAHL N
Citation: A. Sillen et al., A NOVEL MUTATION (C201R) IN THE TRANSMEMBRANE DOMAIN OF CONNEXIN-32 IN SEVERE X-LINKED CHARCOT-MARIE-TOOTH DISEASE, Human mutation, 1998, pp. 8-9
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
CHARACTERIZATION OF THE MYOTUBULARIN DUAL-SPECIFICITY PHOSPHATASE GENE FAMILY FROM YEAST TO HUMAN
Authors: LAPORTE J BLONDEAU F BUJBELLO A TENTLER D KRETZ C DAHL N MANDEL JL
Citation: J. Laporte et al., CHARACTERIZATION OF THE MYOTUBULARIN DUAL-SPECIFICITY PHOSPHATASE GENE FAMILY FROM YEAST TO HUMAN, Human molecular genetics (Print), 7(11), 1998, pp. 1703-1712
HUMAN CALCIUM-ACTIVATED POTASSIUM CHANNEL GENE KCNN4 MAPS TO CHROMOSOME 19Q13.2 IN THE REGION DELETED IN DIAMOND-BLACKFAN ANEMIA
Authors: GHANSHANI S COLEMAN M GUSTAVSSON P WU ACL GARGUS JJ GUTMAN GA DAHL N MOHRENWEISER H CHANDY KG
Citation: S. Ghanshani et al., HUMAN CALCIUM-ACTIVATED POTASSIUM CHANNEL GENE KCNN4 MAPS TO CHROMOSOME 19Q13.2 IN THE REGION DELETED IN DIAMOND-BLACKFAN ANEMIA, Genomics (San Diego, Calif.), 51(1), 1998, pp. 160-161
HIGH ADENOSINE-DEAMINASE LEVEL AMONG HEALTHY PROBANDS OF DIAMOND-BLACKFAN-ANEMIA (DBA) COSEGREGATES WITH THE DBA GENE REGION ON CHROMOSOME 19Q13
Authors: WILLIG TN PERIGNON JL GUSTAVSSON P GANE P DRAPTCHINSKAYA N TESTARD H GIROT R DEBRE M STEPHAN JL CHENEL C CARTRON JP DAHL N TCHERNIA G
Citation: Tn. Willig et al., HIGH ADENOSINE-DEAMINASE LEVEL AMONG HEALTHY PROBANDS OF DIAMOND-BLACKFAN-ANEMIA (DBA) COSEGREGATES WITH THE DBA GENE REGION ON CHROMOSOME 19Q13, Blood, 92(11), 1998, pp. 4422-4427
IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: GUSTAVSSON P GARELLI E DRAPTCHINSKAIA N BALL S WILLIG TN TENTLER D DIANZANI I PUNNETT HH SHAFER FE CARIO H RAMENGHI U GLOMSTEIN A PFEIFFER RA GORINGE A OLIVIERI NF SMIBERT E TCHERNIA G ELINDER G DAHL N
Citation: P. Gustavsson et al., IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIALOCUS ON 19Q13 AND EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 63(5), 1998, pp. 1388-1395
EVIDENCE FOR DIGENIC INHERITANCE OF NONSYNDROMIC HEREDITARY HEARING-LOSS IN A SWEDISH FAMILY
Authors: BALCIUNIENE J DAHL N BORG E SAMUELSSON E KOISTI MJ PETTERSSON U JAZIN EE
Citation: J. Balciuniene et al., EVIDENCE FOR DIGENIC INHERITANCE OF NONSYNDROMIC HEREDITARY HEARING-LOSS IN A SWEDISH FAMILY, American journal of human genetics, 63(3), 1998, pp. 786-793
MUTATIONS IN TRANSCRIPTIONAL REGULATOR ATRX ESTABLISH THE FUNCTIONAL-SIGNIFICANCE OF A PHD-LIKE DOMAIN
Authors: GIBBONS RJ BACHOO S PICKETTS DJ AFTIMOS S ASENBAUER B BERGOFFEN J BERRY SA DAHL N FRYER A KEPPLER K KUROSAWA K LEVIN ML MASUNO M NERI G PIERPONT ME SLANEY SF HIGGS DR
Citation: Rj. Gibbons et al., MUTATIONS IN TRANSCRIPTIONAL REGULATOR ATRX ESTABLISH THE FUNCTIONAL-SIGNIFICANCE OF A PHD-LIKE DOMAIN, Nature genetics, 17(2), 1997, pp. 146-148
DIAMOND-BLACKFAN ANEMIA - GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19Q13 RESTRICTED TO 1.8 MB
Authors: GUSTAVSSON P WILLIG TN VANHAERINGEN A TCHERNIA G DIANZANI I DONNER M ELINDER G HENTER JI NILSSON PG GORDON L SKEPPNER G VANTVEERKORTHOF L KREUGER A DAHL N
Citation: P. Gustavsson et al., DIAMOND-BLACKFAN ANEMIA - GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19Q13 RESTRICTED TO 1.8 MB, Nature genetics, 16(4), 1997, pp. 368-371
MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY
Authors: LAPORTE J GUIRAUDCHAUMEIL C VINCENT MC MANDEL JL TANNER SM LIECHTIGALLATI S WALLGRENPETTERSSON C DAHL N KRESS W BOLHUIS PA FARDEAU M SAMSON F BERTINI E
Citation: J. Laporte et al., MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY, Human molecular genetics, 6(9), 1997, pp. 1505-1511
MISSENSE MUTATIONS IN THE HUMAN GLUTATHIONE SYNTHETASE GENE RESULT INSEVERE METABOLIC-ACIDOSIS, 5-OXOPROLINURIA, HEMOLYTIC-ANEMIA AND NEUROLOGICAL DYSFUNCTION
Authors: DAHL N PIGG M RISTOFF E GALI R CARLSSON B MANNERVIK B LARSSON A BOARD P
Citation: N. Dahl et al., MISSENSE MUTATIONS IN THE HUMAN GLUTATHIONE SYNTHETASE GENE RESULT INSEVERE METABOLIC-ACIDOSIS, 5-OXOPROLINURIA, HEMOLYTIC-ANEMIA AND NEUROLOGICAL DYSFUNCTION, Human molecular genetics, 6(7), 1997, pp. 1147-1152
CLONING AND CHARACTERIZATION OF AN ALTERNATIVELY SPLICED GENE IN PROXIMAL XQ28 DELETED IN 2 PATIENTS WITH INTERSEXUAL GENITALIA AND MYOTUBULAR MYOPATHY
Authors: LAPORTE J KIOSCHIS P HU LJ KRETZ C CARLSSON B POUSTKA A MANDEL JL DAHL N
Citation: J. Laporte et al., CLONING AND CHARACTERIZATION OF AN ALTERNATIVELY SPLICED GENE IN PROXIMAL XQ28 DELETED IN 2 PATIENTS WITH INTERSEXUAL GENITALIA AND MYOTUBULAR MYOPATHY, Genomics, 41(3), 1997, pp. 458-462
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) - EVIDENCE FOR GENETIC-HETEROGENEITY BY EXCLUSION OF LINKAGE TO CHROMOSOME 18Q21-Q22
Authors: ARNELL H NEMETH A ANNEREN G DAHL N
Citation: H. Arnell et al., PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) - EVIDENCE FOR GENETIC-HETEROGENEITY BY EXCLUSION OF LINKAGE TO CHROMOSOME 18Q21-Q22, Human genetics, 100(3-4), 1997, pp. 378-381
IDENTIFICATION OF A 2ND-LOCUS FOR PROGRESSIVE INTRAHEPATIC FAMILIAL CHOLESTASIS ON CHROMOSOME 2Q24
Authors: THOMPSON RJ STRAUTNIEKS SS KAGALWALLA AF TANNER MS KNISELY AS BULL LN FREIMER NB KOCOSHIS SA DAHL N ARNELL H SOKAL E GARDINER RM
Citation: Rj. Thompson et al., IDENTIFICATION OF A 2ND-LOCUS FOR PROGRESSIVE INTRAHEPATIC FAMILIAL CHOLESTASIS ON CHROMOSOME 2Q24, Hepatology, 26(4), 1997, pp. 1020-1020
DIAMOND-BLACKFAN-ANEMIA IN A GIRL WITH A DE-NOVO BALANCED RECIPROCAL X-19 TRANSLOCATION
Authors: GUSTAVSSON P SKEPPNER G JOHANSSON B BERG T GORDON L KREUGER A DAHL N
Citation: P. Gustavsson et al., DIAMOND-BLACKFAN-ANEMIA IN A GIRL WITH A DE-NOVO BALANCED RECIPROCAL X-19 TRANSLOCATION, Journal of Medical Genetics, 34(9), 1997, pp. 779-782
THE GENETICS OF PRIMARY NOCTURNAL ENURESIS - INHERITANCE AND SUGGESTION OF A 2ND MAJOR GENE ON CHROMOSOME 12Q
Authors: ARNELL H HJALMAS K JAGERVALL M LACKGREN G STENBERG A BENGTSSON B WASSEN C EMAHAZION T ANNEREN G PETTERSSON U SUNDVALL M DAHL N
Citation: H. Arnell et al., THE GENETICS OF PRIMARY NOCTURNAL ENURESIS - INHERITANCE AND SUGGESTION OF A 2ND MAJOR GENE ON CHROMOSOME 12Q, Journal of Medical Genetics, 34(5), 1997, pp. 360-365
GENETICS OF DIAMOND-BLACKFAN ANEMIA - ANALYSIS OF THE CHROMOSOME 19Q13.2 REGION IN FAMILIAL AND SPORADIC CASES
Authors: GUSTAVSSON P GARELLI E DRAPTCHINSKAIA N BALL S WILLIG TN RAMENGHI U DIANZANI I GORINGE A OLIVIERI NF SMIBERT E TCHERNIA G ELINDER G SKEPPNER G DAHL N
Citation: P. Gustavsson et al., GENETICS OF DIAMOND-BLACKFAN ANEMIA - ANALYSIS OF THE CHROMOSOME 19Q13.2 REGION IN FAMILIAL AND SPORADIC CASES, Blood, 90(10), 1997, pp. 1954-1954
CONGENITAL-MALFORMATIONS IN DIAMOND-BLACKFAN ANEMIA - COSEGREGATION WITH THE DBA LOCUS ON 19Q13.2
Authors: RAMENGHI U GARELLI E VALTOLINA S VAROTTO S MAIR M FRANCESCHINI P GUSTAVSSON P DIANZANI I DAHL N
Citation: U. Ramenghi et al., CONGENITAL-MALFORMATIONS IN DIAMOND-BLACKFAN ANEMIA - COSEGREGATION WITH THE DBA LOCUS ON 19Q13.2, Blood, 90(10), 1997, pp. 1955-1955
FIBER-FISH ANALYSIS OF A MICRODELETION IN 19Q13 ASSOCIATED WITH DIAMOND-BLACKFAN-ANEMIA, MENTAL-RETARDATION AND SKELETAL ABNORMALITIES
Authors: GUSTAVSSON P TENTLER D ELINDER G EKLOF O GORDON L MANDEL A DAHL N
Citation: P. Gustavsson et al., FIBER-FISH ANALYSIS OF A MICRODELETION IN 19Q13 ASSOCIATED WITH DIAMOND-BLACKFAN-ANEMIA, MENTAL-RETARDATION AND SKELETAL ABNORMALITIES, American journal of human genetics, 61(4), 1997, pp. 1364-1364
DIGENIC INHERITANCE OF NON-SYNDROMIC HEREDITARY HEARING-LOSS
Authors: BALCIUNIENE J DAHL N SAMUELSSON E BORG E PETTERSSON U JAZIN EE
Citation: J. Balciuniene et al., DIGENIC INHERITANCE OF NON-SYNDROMIC HEREDITARY HEARING-LOSS, American journal of human genetics, 61(4), 1997, pp. 1549-1549
LINKAGE ANALYSIS IN A FAMILY WITH PSEUDO-DOMINANTLY INHERITED CONE-ROD DYSTROPHY AND RETINITIS-PIGMENTOSA SUGGESTS THAT THE DEFECTS RESIDE IN THE STARGARDT-DISEASE GENE ABCR
Authors: CREMERS F VANDEPOL D ROZET JM GERBER S VANHAREN F TIJMES N BLANKENAGEL A BERGEN A KNOERS N KREMER H DAHL N PINCKERS A DEUTMAN A KAPLAN J HOYNG C
Citation: F. Cremers et al., LINKAGE ANALYSIS IN A FAMILY WITH PSEUDO-DOMINANTLY INHERITED CONE-ROD DYSTROPHY AND RETINITIS-PIGMENTOSA SUGGESTS THAT THE DEFECTS RESIDE IN THE STARGARDT-DISEASE GENE ABCR, American journal of human genetics, 61(4), 1997, pp. 1930-1930
FOUNDER EFFECT FOR A SPLICE-SITE MUTATION IN THE TRANSGLUTAMINASE-1 GENE IN CONGENITAL RECESSIVE ICHTHYOSIS TYPE-I AND TYPE-II IN NORWAY
Authors: PIGG M GEDDEDAHL T COX D ANTONLAMPRECHT I HAUSSER I DAHL N
Citation: M. Pigg et al., FOUNDER EFFECT FOR A SPLICE-SITE MUTATION IN THE TRANSGLUTAMINASE-1 GENE IN CONGENITAL RECESSIVE ICHTHYOSIS TYPE-I AND TYPE-II IN NORWAY, American journal of human genetics, 61(4), 1997, pp. 2011-2011
MODERATE FREQUENCY OF BRCA1 AND BRCA2 GERM-LINE MUTATIONS IN SCANDINAVIAN FAMILIAL BREAST-CANCER
Authors: HAKANSSON S JOHANNSSON O JOHANSSON U SELLBERG G LOMAN N GERDES AM HOLMBERG E DAHL N PANDIS N KRISTOFFERSSON U OLSSON H BORG A
Citation: S. Hakansson et al., MODERATE FREQUENCY OF BRCA1 AND BRCA2 GERM-LINE MUTATIONS IN SCANDINAVIAN FAMILIAL BREAST-CANCER, American journal of human genetics, 60(5), 1997, pp. 1068-1078
A GENE MUTATED IN X-LINKED MYOTUBULAR MYOPATHY DEFINES A NEW PUTATIVETYROSINE PHOSPHATASE FAMILY CONSERVED IN YEAST
Authors: LAPORTE J HU LJ KRETZ C MANDEL JL KIOSCHIS P COY JF KLAUCK SM POUSTKA A DAHL N
Citation: J. Laporte et al., A GENE MUTATED IN X-LINKED MYOTUBULAR MYOPATHY DEFINES A NEW PUTATIVETYROSINE PHOSPHATASE FAMILY CONSERVED IN YEAST, Nature genetics, 13(2), 1996, pp. 175-182
Risultati: 1-25 | 26-50 | 51-64