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Results: 1-25 | 26-50 | 51-72
Results: 1-25/72
ASSIGNMENT OF TANGIER-DISEASE TO CHROMOSOME 9Q31 BY A GRAPHICAL LINKAGE EXCLUSION STRATEGY
Authors: RUST S WALTER M FUNKE H VONECKARDSTEIN A CULLEN P KROES HY HORDIJK R GEISEL J KASTELEIN J MOLHUIZEN HOF SCHREINER M MISCHKE A HASHMANN HW ASSMANN G
Citation: S. Rust et al., ASSIGNMENT OF TANGIER-DISEASE TO CHROMOSOME 9Q31 BY A GRAPHICAL LINKAGE EXCLUSION STRATEGY, Nature genetics, 20(1), 1998, pp. 96-98
IDENTIFICATION OF A NOVEL GENE FOR AUTOSOMAL-DOMINANT AND AUTOSOMAL RECESSIVE LONG-QT SYNDROME
Authors: SCHULZEBAHR,"WANG Q OBERTI C WEDEKIND H LANGE S BORGGREFE M TOWBIN JA ASSMANN G BREITHARDT G HAVERKAMP W FUNKE H
Citation: Q. Schulzebahr,"wang et al., IDENTIFICATION OF A NOVEL GENE FOR AUTOSOMAL-DOMINANT AND AUTOSOMAL RECESSIVE LONG-QT SYNDROME, European journal of human genetics, 6, 1998, pp. 4283-4283
ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME
Authors: STOGBAUER F YOUNG P WIEBUSCH H TIMMERMAN V KUHLENBAUMER G NELIS E RINGELSTEIN EB KURLEMANN G ASSMANN G VANBROECKHOVEN C FUNKE H
Citation: F. Stogbauer et al., ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME, Neuroscience letters, 240(1), 1998, pp. 1-4
LIPOPROTEINS AND CARDIOVASCULAR RISK - FROM GENETICS TO CHD PREVENTION
Authors: CULLEN P FUNKE H SCHULTE H ASSMANN G
Citation: P. Cullen et al., LIPOPROTEINS AND CARDIOVASCULAR RISK - FROM GENETICS TO CHD PREVENTION, European heart journal, 19, 1998, pp. 5-11
RECURRENT BRACHIAL-PLEXUS PALSIES THE ONLY CLINICAL EXPRESSION OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES ASSOCIATED WITH A DE-NOVO DELETION OF THE PERIPHERAL MYELIN PROTEIN-22 GENE
Authors: STOGBAUER F YOUNG P KERSCHENSTEINER M RINGELSTEIN EB ASSMANN G FUNKE H
Citation: F. Stogbauer et al., RECURRENT BRACHIAL-PLEXUS PALSIES THE ONLY CLINICAL EXPRESSION OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES ASSOCIATED WITH A DE-NOVO DELETION OF THE PERIPHERAL MYELIN PROTEIN-22 GENE, Muscle & nerve, 21(9), 1998, pp. 1199-1201
FAMILIAL AUTOSOMAL-DOMINANT CARPAL-TUNNEL SYNDROME PRESENTING IN A 5-YEAR-OLD CASE
Authors: STOGBAUER F YOUNG P FUNKE H
Citation: F. Stogbauer et al., FAMILIAL AUTOSOMAL-DOMINANT CARPAL-TUNNEL SYNDROME PRESENTING IN A 5-YEAR-OLD CASE, Muscle & nerve, 21(4), 1998, pp. 551-551
PCR-BASED STRATEGY FOR THE DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A
Authors: YOUNG P STOGBAUER F WIEBUSCH H LOFGREN A TIMMERMAN V VANBROECKHOVEN C RINGELSTEIN EB ASSMANN G FUNKE H
Citation: P. Young et al., PCR-BASED STRATEGY FOR THE DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A, Neurology, 50(3), 1998, pp. 760-763
COMBINATION OF ANOMALIES IN APOLIPOPROTEIN B100 AND APOLIPOPROTEIN CIII AFFECTS CORONARY HEART-DISEASE RISK
Authors: FUNKE H GERD A SCHULTE H RUST S CHENG S ERLICH HA
Citation: H. Funke et al., COMBINATION OF ANOMALIES IN APOLIPOPROTEIN B100 AND APOLIPOPROTEIN CIII AFFECTS CORONARY HEART-DISEASE RISK, Circulation, 98(17), 1998, pp. 3871-3871
KCNE1 MUTATIONS CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: SCHULZEBAHR E WANG Q WEDEKIND H HAVERKAMP W CHEN QY SUN YL RUBIE C HORDT M TOWBIN JA BORGGREFE M ASSMANN G QU XD SOMBERG JC BREITHARDT G OBERTI C FUNKE H
Citation: E. Schulzebahr et al., KCNE1 MUTATIONS CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME, Nature genetics, 17(3), 1997, pp. 267-268
GENETIC-DETERMINANTS OF HIGH-DENSITY-LIPOPROTEIN LEVELS
Authors: FUNKE H
Citation: H. Funke, GENETIC-DETERMINANTS OF HIGH-DENSITY-LIPOPROTEIN LEVELS, Current opinion in lipidology, 8(3), 1997, pp. 189-196
AUTOSOMAL RECESSIVE LONG-QT SYNDROME (JERVELL LANGE-NIELSEN SYNDROME)IS GENETICALLY HETEROGENEOUS
Authors: SCHULZEBAHR E HAVERKAMP W WEDEKIND H RUBIE C HORDT M BORGGREFE M ASSMANN G BREITHARDT G FUNKE H
Citation: E. Schulzebahr et al., AUTOSOMAL RECESSIVE LONG-QT SYNDROME (JERVELL LANGE-NIELSEN SYNDROME)IS GENETICALLY HETEROGENEOUS, Human genetics, 100(5-6), 1997, pp. 573-576
MARKED CHANGES OF LIPID-LEVELS DURING PUBERTY IN A PATIENT WITH LIPOPROTEIN-LIPASE DEFICIENCY
Authors: BUCHER H RAMPINI S JAMES RW POMETTA D FUNKE H WIEBUSCH H ASSMANN G
Citation: H. Bucher et al., MARKED CHANGES OF LIPID-LEVELS DURING PUBERTY IN A PATIENT WITH LIPOPROTEIN-LIPASE DEFICIENCY, European journal of pediatrics, 156(2), 1997, pp. 121-125
MUTATIONAL ANALYSIS OF 2 FREQUENTLY OBSERVED LIPOPROTEIN-LIPASE GENE VARIANTS IN THE JAPANESE POPULATION
Authors: WIEBUSCH H FUNKE H SAKU K ARAKAWA K ASSMANN G
Citation: H. Wiebusch et al., MUTATIONAL ANALYSIS OF 2 FREQUENTLY OBSERVED LIPOPROTEIN-LIPASE GENE VARIANTS IN THE JAPANESE POPULATION, Journal of inherited metabolic disease, 20(1), 1997, pp. 108-109
PMP22 FRAMESHIFT MUTATION AND HEREDITARY NEUROPATHY WITH LIABILITY TOPRESSURE PALSIES - REPLY
Authors: YOUNG P WIEBUSCH H STOGBAUER F RINGELSTEIN B ASSMANN G FUNKE H
Citation: P. Young et al., PMP22 FRAMESHIFT MUTATION AND HEREDITARY NEUROPATHY WITH LIABILITY TOPRESSURE PALSIES - REPLY, Neurology, 49(5), 1997, pp. 1478-1479
A NOVEL FRAMESHIFT MUTATION IN PMP22 ACCOUNTS FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: YOUNG P WIEBUSCH H STOGBAUER F RINGELSTEIN B ASSMANN G FUNKE H
Citation: P. Young et al., A NOVEL FRAMESHIFT MUTATION IN PMP22 ACCOUNTS FOR HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Neurology, 48(2), 1997, pp. 450-452
GENETIC DISSECTION OF HIGH-DENSITY-LIPOPROTEIN METABOLISM
Authors: ASSMANN G CULLEN P VONECKARDSTEIN A FUNKE H
Citation: G. Assmann et al., GENETIC DISSECTION OF HIGH-DENSITY-LIPOPROTEIN METABOLISM, Atherosclerosis, 134(1-2), 1997, pp. 5-5
PREVALENCE OF CHOLESTEROL ESTER STORAGE DISEASE IN GERMANY AND SARDINIA
Authors: MUNTONI S WIEBUSCH H JANSEN M RUST S LU F SEEDORF U FUNKE H ASSMANN G
Citation: S. Muntoni et al., PREVALENCE OF CHOLESTEROL ESTER STORAGE DISEASE IN GERMANY AND SARDINIA, Atherosclerosis, 134(1-2), 1997, pp. 80-80
THE MUTATION COMMONLY ASSOCIATED WITH THE CHOLESTEROL ESTER STORAGE DISEASE SEEMS TO BE ABSENT IN THE SARDINIAN POPULATION
Authors: MUNTONI S WIEBUSCH H JANSEN M RUST S LU F SEEDORF U MUNTONI S FUNKE H ASSMANN G
Citation: S. Muntoni et al., THE MUTATION COMMONLY ASSOCIATED WITH THE CHOLESTEROL ESTER STORAGE DISEASE SEEMS TO BE ABSENT IN THE SARDINIAN POPULATION, Atherosclerosis, 133(2), 1997, pp. 41-41
A NEW MUTATION OF THE LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE CAUSING FISH-EYE DISEASE
Authors: ROLLERI M TARUGI P MASTURZO P GINOCCHIO E FASCETTI V FRANCESCHINI G FUNKE H CALANDRA S BERTOLINI S
Citation: M. Rolleri et al., A NEW MUTATION OF THE LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE CAUSING FISH-EYE DISEASE, Atherosclerosis, 133(2), 1997, pp. 51-51
GENE WITH GENE INTERACTION CAUSES CHANGES IN PLASMA-LIPOPROTEIN CONCENTRATIONS
Authors: FUNKE H SCHULTE H KOHLER E ASSMANN G
Citation: H. Funke et al., GENE WITH GENE INTERACTION CAUSES CHANGES IN PLASMA-LIPOPROTEIN CONCENTRATIONS, Atherosclerosis, 130, 1997, pp. 72-72
HETEROZYGOUS HEPATIC LIPASE DEFICIENCY, DUE TO 2 MISSENSE MUTATIONS R186H AND L334F, IN THE HL GENE
Authors: KNUDSEN P ANTIKAINEN M UUSIOUKARI M EHNHOLM S LAHDENPERA S BENSADOUN A FUNKE H WIEBUSCH H ASSMANN G TASKINEN MR EHNHOLM C
Citation: P. Knudsen et al., HETEROZYGOUS HEPATIC LIPASE DEFICIENCY, DUE TO 2 MISSENSE MUTATIONS R186H AND L334F, IN THE HL GENE, Atherosclerosis, 128(2), 1997, pp. 165-174
THE REPLACEMENT OF ARGININE BY CYSTEINE AT RESIDUE-151 IN APOLIPOPROTEIN-A-I PRODUCES A PHENOTYPE SIMILAR TO THAT OF APOLIPOPROTEIN A-I-MILANO
Authors: BRUCKERT E VONECKARDSTEIN A FUNKE H BEUCLER I WIEBUSCH H TURPIN G ASSMANN G
Citation: E. Bruckert et al., THE REPLACEMENT OF ARGININE BY CYSTEINE AT RESIDUE-151 IN APOLIPOPROTEIN-A-I PRODUCES A PHENOTYPE SIMILAR TO THAT OF APOLIPOPROTEIN A-I-MILANO, Atherosclerosis, 128(1), 1997, pp. 121-128
IDENTIFICATION OF A NEW GENE FOR AUTOSOMAL RECESSIVE LONG-CT SYNDROME(JERVELL-LANGE-NIELSEN-SYNDROME)
Authors: SCHULZEBAHR E WANG Q HAVERKAMP W WEDEKIND H RUBIE C CHEN QY HORDT M BREITHARDT G FUNKE H
Citation: E. Schulzebahr et al., IDENTIFICATION OF A NEW GENE FOR AUTOSOMAL RECESSIVE LONG-CT SYNDROME(JERVELL-LANGE-NIELSEN-SYNDROME), Circulation, 96(8), 1997, pp. 308-308
DO MUTATIONS IN CARDIAC ION-CHANNEL GENES PREDISPOSE TO DRUG-INDUCED (ACQUIRED) LONG-QT SYNDROME
Authors: SCHULZEBAHR E HAVERKAMP W HORDT M WEDEKIND H BORGGREFE M FUNKE H
Citation: E. Schulzebahr et al., DO MUTATIONS IN CARDIAC ION-CHANNEL GENES PREDISPOSE TO DRUG-INDUCED (ACQUIRED) LONG-QT SYNDROME, Circulation, 96(8), 1997, pp. 1167-1167
GENE WITH GENE INTERACTION INFLUENCES THE EXPRESSIVITY IN CHROMOSOME 11-SPECIFIC (KVLQT1) LONG-QT SYNDROME IN A LARGE GERMAN KINDRED
Authors: WEDEKIND H SCHULZEBAHR E HAVERKAMP W HORDT M LANGE S RUBLE C BORGGREFE M FUNKE H
Citation: H. Wedekind et al., GENE WITH GENE INTERACTION INFLUENCES THE EXPRESSIVITY IN CHROMOSOME 11-SPECIFIC (KVLQT1) LONG-QT SYNDROME IN A LARGE GERMAN KINDRED, Circulation, 96(8), 1997, pp. 1171-1171
Risultati: 1-25 | 26-50 | 51-72