Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Karsten Haug"'
Autor:
Ulrike Schöck, Cornelia Blank, Patricia Smerdka, Max Wüstemann, Tilo Burkhardt, Bernt Schulze, Yadhu Kumar, Sabine Langer-Freitag, Michael Entezami, Roland Zimmermann, Gisela Raabe-Meyer, Maja Hempel, E. Ostermayer, Tina Schleicher, Wera Hofmann, Bernd Weil, Markus Schelling, Sebastian Grömminger, Markus Stumm, Karsten Haug
Publikováno v:
Prenatal Diagnosis. 34:185-191
Objective The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. Methods Random massively parallel sequencing was applied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b3aef9d7103846c5ce52e467009d5ce
https://doi.org/10.1002/pd.4278
https://doi.org/10.1002/pd.4278
Autor:
Konstanze Gebauer, Hartmut Engels, Thomas Haaf, Nicolai Kohlschmidt, Oliver Bartsch, Karsten Haug, Ulrich Zechner, Olga Kempf
Publikováno v:
European Journal of Medical Genetics. 52:306-310
We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f755f31b8b9ddcdb4dbd3a2a864723ce
https://doi.org/10.1016/j.ejmg.2009.06.001
https://doi.org/10.1016/j.ejmg.2009.06.001
Publikováno v:
Annals of Neurology. 59:970-975
Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (SMN1) gene and malfunction of the remaining SMN2. We investigated whether valproic acid can elevate human SMN expression in vivo. Methods Blood was collected from 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31665562bca71dbc4f3a79ebbcd3f699
https://doi.org/10.1002/ana.20836
https://doi.org/10.1002/ana.20836
Autor:
Karsten Haug, Maike Warnstedt, Alexi K. Alekov, Thomas Sander, Alfredo Ramírez, Barbara Poser, Snezana Maljevic, Simon Hebeisen, Christian Kubisch, Johannes Rebstock, Steve Horvath, Kerstin Hallmann, Joern S. Dullinger, Birgit Rau, Fritz Haverkamp, Stefan Beyenburg, Herbert Schulz, Dieter Janz, Bernd Giese, Gerhard Müller-Newen, Peter Propping, Christian E. Elger, Christoph Fahlke, Holger Lerche, Armin Heils
Publikováno v:
Nature Genetics. 33:527-532
Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about 0.4% of the world's population. Mutations in ten genes causing distinct forms of idiopathic epilepsy have been identified so far, but the genetic basis of man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326f481096221815c6d7b5f4e4358ff7
https://doi.org/10.1038/ng1121
https://doi.org/10.1038/ng1121
Autor:
Eberhard Merz, Nicolai Kohlschmidt, Dieter Schäfer, Mirjam Dereser-Dennl, Judith Zielinski, Karsten Haug
Publikováno v:
American Journal of Medical Genetics. 101:255-258
We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e999edb2be41702aec3418aba38e86d3
https://doi.org/10.1002/1096-8628(20010701)101:3<255::aid-ajmg1383>3.0.co
https://doi.org/10.1002/1096-8628(20010701)101:3<255::aid-ajmg1383>3.0.co
Autor:
Stefan Beyenburg, Karsten Haug, Christian E. Elger, Steve Horvath, Peter Propping, Joern S. Dullinger, Christian Kubisch, Kerstin Hallmann, Thomas Sander, Birgit Rau, Armin Heils
Publikováno v:
Epilepsy Research. 42:57-62
Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. Recent identification of ion channel gene mutations in Mendelian epilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9298fe5c91ef0b09c348fcb835ce033
https://doi.org/10.1016/s0920-1211(00)00164-9
https://doi.org/10.1016/s0920-1211(00)00164-9
Autor:
Peter Propping, Birgit Rau, Armin Heils, A Barnekow, Joern S. Dullinger, Christian E. Elger, Thomas Sander, Karsten Haug, Kerstin Hallmann, Stefan Beyenburg, M.J Lentze, J Kremerskothen
Publikováno v:
Molecular and Cellular Probes. 14:255-260
Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. However, genes, which confer liability to common IGE subtypes including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc9d30c2cdc28fddc7f461310fc8ac4
https://doi.org/10.1006/mcpr.2000.0314
https://doi.org/10.1006/mcpr.2000.0314
Autor:
Christian E. Elger, Peter Propping, Karsten Haug, Kerstin Hallmann, Armin Heils, Michael J. Lentze, Thomas Sander
Publikováno v:
Epilepsy Research. 39:127-132
Monoaminergic neurotransmission plays an important role in the regulation of neuronal network excitability and seizure activity. Therapeutic inhibition of the mitochondrial enzyme monoamine oxidase A (MAO-A), which is involved in the degradation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236b7266dbfece3b3b155faec2f4bad4
https://doi.org/10.1016/s0920-1211(99)00116-3
https://doi.org/10.1016/s0920-1211(99)00116-3
Autor:
Markus, Stumm, Michael, Entezami, Karsten, Haug, Cornelia, Blank, Max, Wüstemann, Bernt, Schulze, Gisela, Raabe-Meyer, Maja, Hempel, Markus, Schelling, Eva, Ostermayer, Sabine, Langer-Freitag, Tilo, Burkhardt, Roland, Zimmermann, Tina, Schleicher, Bernd, Weil, Ulrike, Schöck, Patricia, Smerdka, Sebastian, Grömminger, Yadhu, Kumar, Wera, Hofmann
Publikováno v:
Prenatal diagnosis. 34(2)
The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland.Random massively parallel sequencing was applied using Illumina sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ff60e742896c6ce9012c6cec606f4e72
https://pubmed.ncbi.nlm.nih.gov/24222400
https://pubmed.ncbi.nlm.nih.gov/24222400
Autor:
Karsten Haug, Joern S. Dullinger, Thomas Sander, Peter Propping, Kerstin Hallmann, Christian E. Elger, Armin Heils, Birgit Rau
Publikováno v:
NeuroReport. 11:2687-2689
Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyperexcitability plays an important role in epileptogenesis. In this study, we tested the hypothesis that genetic variation in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2028f281cdd0178725c26fd1ad6932
https://doi.org/10.1097/00001756-200008210-00016
https://doi.org/10.1097/00001756-200008210-00016