Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Udo, Koehler"'
Autor:
Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger
Publikováno v:
Cells, Vol 10, Iss 10, p 2630 (2021)
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogene
Externí odkaz:
https://doaj.org/article/1be1c6870611448e83ba695fc2030e0a
Autor:
Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen, Joachim Riedel
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ac745cda2a844da2a394831469fec189
Autor:
Carolina Courage, Udo Koehler, Stephanie Kleinle, Teresa Neuhann, Elke Holinski-Feder, Angela Abicht
Publikováno v:
Gynäkologische Endokrinologie. 20:116-124
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11673f587036bf3bb4f86080c6bd4130
https://doi.org/10.1007/s10304-021-00434-2
https://doi.org/10.1007/s10304-021-00434-2
Autor:
Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá
Publikováno v:
European journal of human genetics : EJHG. 30(9)
Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch syndrome patients are classified as variants of uncertain significance (VUS). Well-established functional assays are pivotal for assessing the biological impact of these v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8a12a3470ee37628b61410b1cd3809
https://pubmed.ncbi.nlm.nih.gov/35676339
https://pubmed.ncbi.nlm.nih.gov/35676339
Autor:
Florentine, Scharf, Rafaela Magalhaes, Leal Silva, Monika, Morak, Alex, Hastie, Julia M A, Pickl, Kai, Sendelbach, Christian, Gebhard, Melanie, Locher, Andreas, Laner, Verena, Steinke-Lange, Udo, Koehler, Elke, Holinski-Feder, Dieter A, Wolf
Publikováno v:
Journal of medical genetics. 59(10)
Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of theWe applied multidimensional genomic analysis employing chromosomal microarray profiling, optical mapping, long-rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::366b2bf22ff0947a398166ebf9e7c864
https://pubmed.ncbi.nlm.nih.gov/34911816
https://pubmed.ncbi.nlm.nih.gov/34911816
Autor:
Udo Koehler, Tanja Haeusser, Brigitte Mauracher, Andreas Laner, Christiane Kling, Nils Rahner, Kerstin Schaefer, Verena Steinke-Lange, Monika Morak, Jessica Bailey, Susanne Keinath, Elke Holinski-Feder, Trisari Massdorf
Publikováno v:
Eur J Hum Genet
In pathogenicity assessment, RNA-based analyses are important for the correct classification of variants, and require gene-specific cut-offs for allelic representation and alternative/aberrant splicing. Beside this, the diagnostic yield of RNA-based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b955d50e7382adc08238bc3b0c6f4
https://doi.org/10.1038/s41431-019-0472-8
https://doi.org/10.1038/s41431-019-0472-8
Autor:
Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Kai Sendelbach, Christian Gebhard, Melanie Locher, Andreas Laner, Verena Steinke-Lange, Udo Koehler, Elke Holinski-Feder, Dieter A Wolf
PurposeApproximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the APC and other polyposis genes, suggesting additional pathomechanisms.MethodsWe applied multidimensional ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8b4295c2d013950175836a8fc03078
https://mediatum.ub.tum.de/doc/1689191/document.pdf
https://mediatum.ub.tum.de/doc/1689191/document.pdf
Autor:
Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès
Publikováno v:
Clinical Case Reports
Key Clinical Message Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996
https://doi.org/10.1002/ccr3.1830
https://doi.org/10.1002/ccr3.1830
Autor:
Doris Boeckelmann, Julia Kracht, Barbara Zieger, Katharina Neubauer, Janbernd Kirschner, Manuela Pendziwiat, Udo Koehler
Publikováno v:
Cytoskeleton (Hoboken, N.j.)
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of the brachial plexus. In this study, we report on a family of Lebanese descent with HNA onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488229d88878084af3a22263c4ba2e7e
https://pubmed.ncbi.nlm.nih.gov/30019529
https://pubmed.ncbi.nlm.nih.gov/30019529
Autor:
Udo Koehler, Emanuele G. Coci, Thomas Liehr, Joachim Riedel, Hendrik Langen, Armin Stelzner, Christian Fink
Publikováno v:
Molecular Cytogenetics
Background Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic deficiency (haplo-insufficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3633adb420a91a9f34bb7764edd268
https://doi.org/10.1186/s13039-016-0219-y
https://doi.org/10.1186/s13039-016-0219-y