Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Alma Küchler"'
Autor:
Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental
Externí odkaz:
https://doaj.org/article/2e484f64d83a4c958c3c49c8b122eed4
Autor:
Carl M. Thielmann, Antje Kampmeier, Alma Küchler, Martin Zenker, Ilse Wieland, Johanna Matull, Frederik Krefting, Klaus Griewank, Eva Hadaschik
Publikováno v:
JEADV Clinical Practice, Vol 1, Iss 4, Pp 416-419 (2022)
Abstract Giant congenital melanocytic naevi (CMN) are large melanocytic lesions commonly associated with neurologic abnormalities. Patients diagnosed with giant melanocytic naevi are at an increased risk of developing melanoma compared to patients wi
Externí odkaz:
https://doaj.org/article/7604a5c3f0f944a1a79aca15ca67cb6e
Autor:
Eva Rossier, Dagmar Wieczorek, Jasmin Beygo, Sabine Purmann, Bernhard Horsthemke, Jonas Eckle, Alma Küchler, Beate Albrecht, Karin Buiting, Hermann-Josef Lüdecke, Maren Wenzel, Thomas Eggermann, Ulrike Kordaß, Alexandra Gellhaus, Gabriele Gillessen-Kaesbach, Deniz Kanber, Ilse M. van der Werf, Johannes van de Nes
Publikováno v:
European journal of human genetics
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially me
Autor:
Anja Stein, Bernd Schweiger, Ute Hehr, Alma Küchler, Adela Della Marina, Katrin Rupprich, Iciar Sánchez-Albisua, Magdeldin Elgizouli, Heike Kölbel, Ulrike Schara
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Hermann Luedecke, Dagmar Wieczorek, Alma Küchler, Tim M. Strom, Adela Della Marina, Katrin Rupprich, Iciar Sánchez-Albisua, Nuria C. Bramswig, Ulrike Schara, Heike Kölbel
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Autor:
Silke Redler, Stephanie Jeschke, Hartmut Engels, Alma Küchler, Kirsten Cremer, Nicole Schreyer, Felix Distelmaier, Tim M. Strom, Johannes R. Lemke, Dagmar Wieczorek, Heinrich Sticht, Jörg Schaper, Thomas Wieland, Hermann-Josef Lüdecke, Margarete Koch
Publikováno v:
Eur. J. Hum. Genet. 25, 889-893 (2017)
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present stud
Autor:
Alma Küchler
Publikováno v:
Pädiatrie up2date. :111-135
Autor:
Dagmar Wieczorek, Alma Küchler
Publikováno v:
Medizinische Genetik. 23:505-517
ZusammenfassungSyndromale Krankheitsbilder mit dem Leitsymptom Großwuchs stellen eine häufige Fragestellung in der humangenetischen und pädiatrischen Sprechstunde dar. Definiert ist ein Großwuchs durch eine Körperlänge, die mehr als 2 Standarda
Autor:
Eva Wohlleber, Susanne Kjaergaard, Alexander M. Zink, Alma Küchler, Maria Kirchhoff, Martina Kreiß-Nachtsheim, Birgit Jepsen, Hartmut Engels
Publikováno v:
European journal of medical genetics. 54(1)
Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures,
Autor:
Nikolai Rubtsov, Martina Merkas, Ahmed B. Hamid, Thomas Liehr, Alma Küchler, Isolde Schreyer, Ferdinand von Eggeling, Raimund Fahsold, Jasen Anderson, Nadezda Kosyakova, Kristin Mrasek, Julia Hentschel, Elisabeth Ewers, Heike Nelle, Anikó Ujfalusi, Anja Weise
Mental retardation is correlated in approximately 0.4% of cases with the presence of a small supernumerary marker chromosome (sSMC). However, here we report a case of a carrier of a heterochromatic harmless sSMC with fragile X syndrome (Fra X). In ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1c92d1ba50c42acbfef3d532589cb18