Výsledky vyhledávání - "Sigrun Hofferbert"

Frequency of BRCA1 Mutation 5382insC in German Breast Cancer Patients

Autor: Alfons Meindl, Bernhard H. F. Weber, Renate Burgemeister, Jenny Chang-Claude, Johann H. Karstens, Britta Skawran, Thilo Dörk, Jael Backe, Michael Untch, Sigrun Hofferbert, Manfred Stuhrmann

Publikováno v: Gynecologic Oncology. 72:402-406

Objective.The aim of the study was to determine the frequency of the BRCA1 mutation 5382insC in German breast cancer patients with and without prior knowledge of a family history of breast cancer. Methods.Two groups of breast cancer patients were tes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272b01e3c05d383de4764f9594ee3fc
https://doi.org/10.1006/gyno.1998.5270

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Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method

Autor: Uta Francke, N. Carolyn Schanen, Farid F. Chehab, Sigrun Hofferbert

Publikováno v: Human Molecular Genetics. 6:77-83

Using a modified Repeat Expansion Detection (RED) assay, that was optimized for individual oligonucleotides, unrelated individuals were systematically screened for maximal repeat sizes of each of the ten possible trinucleotide repeats. Cloned trinucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f5560dcb3307feb93a2384139a6999
https://doi.org/10.1093/hmg/6.1.77

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A novel 5′-upstream mutation in the factor X11 gene is associated with a Taql restriction site in an Alu repeat in factor X11-deficient patients

Autor: Heinz Köstering, Wolf-Diedrich von Ohlen, M Schloesser, Jens Müller, Sigrun Hofferbert

Publikováno v: Human Genetics. 97:838-841

The factor XII gene from factor XII-deficient patients was screened for mutations at the genomic level. In patients negative for cross-reacting material, a T to C transition 224 bp upstream of exon 3 was identified (exon 3-224 (T --> C)) that creates

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6cf5426402982f222a4ebea59f9b7594
https://doi.org/10.1007/bf02346200

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Sequence analysis of the conserved protamine gene cluster shows that it contains a fourth expressed gene

Autor: Sigrun Hofferbert, Ibrahim M. Adham, Renato Obata, Astrid Schlung, Gregor Schlüter, Mike Schlicker, Arzu Celik, Wolfgang Engel

Publikováno v: Molecular Reproduction and Development. 43:1-6

Structural data are presented on the protamine gene cluster (PGC) of human, mouse, rat, and bull. By restriction mapping we demonstrate that the organization of the protamine cluster is conserved throughout all four species, i.e., the genes are situa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b3d4cbadd780598a50e1388aa509e8
https://doi.org/10.1002/(sici)1098-2795(199601)43:1<1::aid-mrd1>3.0.co

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A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype

Autor: Wolfgang Engel, Haidl G, Sigrun Hofferbert, Lange R, Peter Burfeind, Sigrid Hoyer-Fender

Publikováno v: Human Molecular Genetics. 2:2167-2170

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50642b36d871e137b40bf35a1eef19ca
https://doi.org/10.1093/hmg/2.12.2167

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The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients

Autor: Sigrun Hofferbert, Gerd Lutze, M Schloesser, Wolfgang Engel, Ute Bartz, Bernhard Lämmle

Publikováno v: Schloesser, Manfred; Hofferbert, Sigrun; Bartz, Ute; Lutze, Gerd; Lämmle, Bernhard; Engel, Wolfgang (1995). The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Human molecular genetics, 4(7), pp. 1235-1237. Oxford University Press 10.1093/hmg/4.7.1235

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e77d38c5d428509a1a15d33fdd148917
https://boris.unibe.ch/115714/1/4-7-1235.pdf

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