Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Eva-Maria Gerlach"'
Autor:
Sophie Eisenreich, Khalil Abou-El-Ardat, Karol Szafranski, Jaime A Campos Valenzuela, Andreas Rump, Janice M Nigro, Rolf Bjerkvig, Eva-Maria Gerlach, Karl Hackmann, Evelin Schröck, Dietmar Krex, Lars Kaderali, Gabriele Schackert, Matthias Platzer, Barbara Klink
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e76623 (2013)
Oligodendroglial tumors form a distinct subgroup of gliomas, characterized by a better response to treatment and prolonged overall survival. Most oligodendrogliomas and also some oligoastrocytomas are characterized by a unique and typical unbalanced
Externí odkaz:
https://doaj.org/article/801c70ba21a348528b99e6c36c4f4533
Autor:
Tim Lienemann, Christian A. Voigt, Eva-Maria Gerlach, Stephan Michael Portheine, Giuliana Hessler, Gerald Koch, Stefan Hoth
Publikováno v:
Journal of Experimental Botany.
Plants possess a well-balanced immune system that is required for defense against pathogen infections. In autoimmune mutants or necrotic crosses, an intrinsic temperature-dependent imbalance leads to constitutive immune activation, resulting in sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a20ad461c90be1742bdbedab01cac4ed
https://doi.org/10.1093/jxb/erab423
https://doi.org/10.1093/jxb/erab423
Autor:
Karl Hackmann, A. Frensel, Sigrid Tinschert, W. Werner, Eva-Maria Gerlach, A. Stadler, Evelin Schröck
Publikováno v:
Medizinische Genetik. 20:361-366
Zusammenfassung Die humangenetische Diagnostik umfasst eine Vielzahl von Verfahren, die sich aufgrund ihrer spezifischen Einsatzbedingungen und Anwendungsmöglichkeiten gegenseitig ergänzen. Mit der stetigen Entwicklung neuer Methoden ist es sinnvol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::036ab8ff4e12171c08d9efb617d7586f
https://doi.org/10.1007/s11825-008-0130-y
https://doi.org/10.1007/s11825-008-0130-y
Autor:
Sigrid Tinschert, W. Werner, Anja Matthaei, Konrad Oexle, Klaus G. Hinkel, Oliver Bartsch, Inna Nitz, Andreas Rump, Evelin Schröck, Eva-Maria Gerlach, Ulrike Koerner, Alexander Herr
Publikováno v:
European Journal of Medical Genetics. 48:328-338
A 5.4-year-old male propositus is reported with mild dysmorphic features including hypoplasia of the radial part of both hands affecting thenar, thumb and fingers 2-3, incomplete syndactyly of fingers 3-4, single palmar creases, brachymesophalangia o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a8ff88912d2aaa042e47d6ca6447dd
https://doi.org/10.1016/j.ejmg.2005.04.024
https://doi.org/10.1016/j.ejmg.2005.04.024
Autor:
Eva-Maria Gerlach, Teresa Neuhann, Sigrid Tinschert, Nataliya Tyshchenko, Karl Hackmann, Evelin Schröck
Publikováno v:
European Journal of Medical Genetics. 52:128-130
We report on a patient with a de novo microdeletion 3q29 detected by molecular karyotyping using array CGH analysis. The girl displayed microphthalmia and cataract, hyperplastic pyloric stenosis, mild dysmorphic facial features, and developmental del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d5f837db98cc89795a8c2ea0ab3deee
https://doi.org/10.1016/j.ejmg.2009.03.002
https://doi.org/10.1016/j.ejmg.2009.03.002
Autor:
Sarah Matko, Karl Hackmann, Andreas Rump, Evelin Schröck, Barbara Klink, Nataliya Di Donato, Eva-Maria Gerlach, Maja von der Hagen
We report about the partial de novo loss of GLRB and GRIA2 in an individual with intellectual disability (ID). No additional mutations were found in either gene. GLRB itself does not seem to be a good candidate as it causes autosomal recessive hypere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e558a82c252fe11cfc4783d8605b4390
https://europepmc.org/articles/PMC3522202/
https://europepmc.org/articles/PMC3522202/
Autor:
Karl Hackmann, Jens Schallner, Konrad Oexle, Evelin Schröck, Anja Stadler, Andreas Rump, Sigrid Tinschert, Eva-Maria Gerlach, Christine Fauth, Kathlen Franke
Publikováno v:
American journal of medical genetics. Part A. (12)
We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, cranio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f47e389ed8a2ca868657afc172995976
https://pubmed.ncbi.nlm.nih.gov/24039006
https://pubmed.ncbi.nlm.nih.gov/24039006
Autor:
Nataliya Tyshchenko, Andreas Rump, Sigrid Tinschert, Evelin Schröck, Teresa Neuhann, Eva-Maria Gerlach, Karl Hackmann, K. Heisch, Gabriele Hahn
Publikováno v:
American journal of medical genetics. Part A. (9)
We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff27b4f4b98a3701aeac33413b7b1b6
https://pubmed.ncbi.nlm.nih.gov/21834043
https://pubmed.ncbi.nlm.nih.gov/21834043
Publikováno v:
Neuro-Signals. 14(3)
It has previously been shown that skeletal myotubes express nitric oxide synthase (NOS) and produce and release NO signals. NOS is also part of agrin-induced acetylcholine receptor aggregations on myotubes. As nerve-muscle interactions underlie recip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dc4bbe2ea0d8adcceaa152fe9fe3fbc
https://pubmed.ncbi.nlm.nih.gov/16088222
https://pubmed.ncbi.nlm.nih.gov/16088222
Autor:
Dietmar Krex, Khalil Abou-El-Ardat, Sophie Eisenreich, Karol Szafranski, Evelin Schröck, Karl Hackmann, Gabriele Schackert, Barbara Klink, Matthias Platzer, Eva-Maria Gerlach, Lars Kaderali, Jaime Campos-Valenzuela, Andreas Rump
Publikováno v:
Cancer Research. 74:3387-3387
Lower grade gliomas can be histologically classified into astrocytomas, oligoastrocytomas, or oligodendrogliomas. The latter have come into focus because of their interesting characteristics: they have a more favorable outcome and better response to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::733476db4290aa8aaee15cf62780eea4
https://doi.org/10.1158/1538-7445.am2014-3387
https://doi.org/10.1158/1538-7445.am2014-3387