Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Karin Schaeferhoff"'
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Discordance between ultrasound and cell free DNA screening for monosomy X
Autor: Andreas Dufke, Sylke Singer, Karl Oliver Kagan, Markus Hoopmann, Ulrike A. Mau-Holzmann, Karin Schaeferhoff
Publikováno v: Archives of gynecology and obstetrics. 294(2)
Cell free DNA (cfDNA) testing has evolved as an important tool in prenatal screening for trisomy 21. It can also be used in screening for monosomy X. We perform a systemic review to determine the detection and false positive in screening for monosomy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26381cb472dc3b8cde0dedac5c726ffe
https://pubmed.ncbi.nlm.nih.gov/27022934
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4
Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms
Autor: Karin Schaeferhoff, Tanja Benkert, Martin Kehrer, Annette Weichselbaum, Ute Grasshoff, Thomas Liehr, Andreas Tzschach, Michael Bonin, Sylke Singer
Publikováno v: American journal of medical genetics. Part A. (3)
Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9-year-old gi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05efdc9b249805ab4bbd654beeb9b999
https://pubmed.ncbi.nlm.nih.gov/25691419
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5
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients
Autor: Sven Poths, Olaf Riess, Diethelm Wallwiener, Karina Haebig, Gianmaria Barresi, Sara Y. Brucker, Karin Schaeferhoff, Michael Bonin, Michael A. Walter, Katharina Rall, Birgitt Schoenfisch
Publikováno v: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 32 (2011)
Orphanet Journal of Rare Diseases
Background The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155d16df4fc8074387e1390fad980f99
http://www.ojrd.com/content/6/1/32
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6
Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies
Autor: M Dominik, Fischer, Naoyuki, Tanimoto, Susanne C, Beck, Gesine, Huber, Karin, Schaeferhoff, Stylianos, Michalakis, Olaf, Riess, Bernd, Wissinger, Martin, Biel, Michael, Bonin, Mathias W, Seeliger
Publikováno v: Advances in experimental medicine and biology. 664
We performed a comprehensive in vivo assessment of retinal morphology and function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies.Mice were examined using electroretinography
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae6c9ee1bd0bbcc56d3330b6d5669780
https://pubmed.ncbi.nlm.nih.gov/20238063
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7
Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice
Autor: M. W. Seeliger, Bernd Wissinger, Karin Schaeferhoff, Stylianos Michalakis, Gesine Huber, Naoyuki Tanimoto, M. D. Fischer, Olaf Riess, Susanne C. Beck, Elvir Becirovic, N. Rieger, Michael Bonin, Martin Biel
Publikováno v: Cellular and molecular life sciences : CMLS. 67(18)
Cone dystrophies are genetic diseases characterized by loss of cone photoreceptor function and severe impairment of daylight vision. Loss of function is accompanied by a progressive degeneration of cones limiting potential therapeutic interventions.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3367859b3c6c7c61e434d62f1c926a
https://pubmed.ncbi.nlm.nih.gov/20467778
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8
Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies
Autor: M. Dominik Fischer, Stylianos Michalakis, Naoyuki Tanimoto, Martin Biel, Susanne C. Beck, Bernd Wissinger, Mathias W. Seeliger, Gesine Huber, Karin Schaeferhoff, Michael Bonin, Olaf Riess
Publikováno v: Retinal Degenerative Diseases ISBN: 9781441913982
PURPOSE: We performed a comprehensive in vivo assessment of retinal morphology and function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies. METHODS: Mice were examined using e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f99e341cd32f2f333f6d2e97b4086138
http://ora.ox.ac.uk/objects/uuid:f9659b85-13ad-4fc9-8357-574ab9cef3bf
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9
Molecular and cell biological effects of 3,5,3′-triiodothyronine on progenitor cells of the enteric nervous system in vitro
Autor: Karin Schaeferhoff, Lothar Just, Florian Obermayr, Susanne Stachon, Ying Zhang, Roland Mohr, Peter H Neckel, Michael Bonin, Katharina Nothelfer
Publikováno v: Stem Cell Research. (3):1191-1205
Introduction Thyroid hormones play important roles in the development of neural cells in the central nervous system. Even minor changes to normal thyroid hormone levels affect dendritic and axonal outgrowth, sprouting and myelination and might even l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab33212f7ef1c5c2b22c68c84e41adc
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