Výsledky vyhledávání - "Anja Homberger"

Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene

Autor: Thorsten Marquardt, Holger Willenbring, Erik Harms, Michael Linnebank, Carsten Winter, Hans Georg Koch, Anja Homberger

Publikováno v: European Journal of Human Genetics. 8:725-729

The human 5,10-methylenetetrahydrofolate reductase (MTHFR) represents a major enzyme in the folate-dependent regulation of methionine and homocysteine concentrations. Different MTHFR mutations lead either to severe homocystinuria as a multisystem dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befbd21fe39ff27ad8816798b89c6313
https://doi.org/10.1038/sj.ejhg.5200522

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Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

Autor: Thorsten Marquardt, C. Winter, Erik Harms, Michael Linnebank, Anja Homberger, B. Rapp, Hans Georg Koch

Publikováno v: Journal of Inherited Metabolic Disease. 23:308-312

Deficiency of argininosuccinate lyase (ASLD; McKusick 207900) is a rare autosomal recessively inherited metabolic disease affecting the urea cycle (Brusilow and Horwich, 1995). A full-length ASL-cDNA clone containing an open reading frame of 1392bp w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a106c4b48806c538f5773222d55e03
https://doi.org/10.1023/a:1005690005439

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Frequent Polymorphism of the Human Methylenetetrahydrofolate Reductase

Autor: Hans Georg Koch, Michael Linnebank, Anja Homberger

Publikováno v: Stroke. 31:983-991

To the Editor: In the recent article by Bova et al,1 the authors describe a significant association of the “alanine/valine (A/V) polymorphism at codon 677 of the 5, 10 methylenetetrahydrofolate reductase (MTHFR) …

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::87cf5ae236d9cddfa91638bfe036aa2a
https://doi.org/10.1161/01.str.31.4.983-e

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The 677T genotype of the common MTHFR thermolabile variant and fasting homocysteine in childhood venous thrombosis

Autor: Hans Georg Koch, R. Schobess, P. Nabel, Michael Linnebank, Anja Homberger, Ralf Junker, K. Auberger, Ulrike Nowak-Göttl

Publikováno v: European Journal of Pediatrics. 158:S113-S116

Controlled data on the association of MTHFR genotypes, hyperhomocysteinaemia and their interaction with factor V G1691A with childhood thrombosis are not yet available. Therefore we conducted a case-control study comparing 141 childhood patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d885185df75d6fdca347f5bbb67df2e
https://doi.org/10.1007/pl00014332

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High Prevalence of the I278T Mutation of the Human Cystathionine β-Synthase Detected by a Novel Screening Application

Autor: H. G. Koch, Erik Harms, Ulrike Nowak-Goettl, Michael Linnebank, Ralf Junker, Anja Homberger

Publikováno v: Thrombosis and Haemostasis. 85:986-988

SummaryClassical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease. This autosomal-recessively inherited metabolic disorder is considered to be rar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f69d09f587154afa326c3f74ece522c
https://doi.org/10.1055/s-0037-1615951

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Linkage disequilibrium of the common mutations 677CT and 1298AC of the human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129CT, 1068CT

Autor: Thorsten Marquardt, Anja Homberger, Erik Harms, Ulrike Nowak-Göttl, Hans-Georg Koch, Michael Linnebank

Publikováno v: European journal of pediatrics. 159(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30fdf0b98e9337c969c1ca8cbc73aa96
https://pubmed.ncbi.nlm.nih.gov/10867857

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Haplotyping of wild type and I278T alleles of the human cystathionine ?-synthase gene based on a cluster of novel SNPs in IVS12

Autor: Viktor Kozich, Anja Homberger, Jan P. Kraus, Erik Harms, Michael Linnebank, Hans Georg Koch

Publikováno v: Human Mutation. 17:350-351

Homocystinuria is most frequently due to deficiency of cystathionine β-synthase (CBS). We identified IVS12 as a polymorphism hot spot of the human CBS gene and report five novel single nucleotide polymorphisms (SNPs): g.13514G>A, g.13617A>G, g.13715

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8757bf331e2fc3ac6b1514bbc493b17
https://doi.org/10.1002/humu.36

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A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls

Autor: Michael Linnebank, Hans-Georg Koch, Anja Homberger, Ulrike Nowak-Göttl

Publikováno v: Human Mutation. 20:478-478

The common polymorphic transition 677C>T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene causes a thermolabile enzyme variant. This variant is associated with moderate hyperhomocysteinemia, a risk factor for vascular disease and thrombop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::edc807ee81c2e30fc67aff9fc43b188e
https://doi.org/10.1002/humu.9089

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Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a

Autor: U. Knzel, C. Winter, B. Rapp, Thorsten Marquardt, Anja Homberger, Michael Linnebank, Hans-Georg Koch

Publikováno v: Human Mutation. 13:414-414

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f5decde2ce26c8d9f5e0a372cb91020
https://doi.org/10.1002/(sici)1098-1004(1999)13:5<414::aid-humu18>3.0.co

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