Publications by authors named "Ulrich Zechner"

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[Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins].
Christoph Wilmanns, Ulrich Zechner, Paul Karl Walter, Alicia Schulze

Zentralbl Chir· December 2024

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[Correction: Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins].
Christoph Wilmanns, Ulrich Zechner, Paul Karl Walter, Alicia Schulze

Zentralbl Chir· June 2024

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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ulrich Zechner

JCI Insight· November 2023

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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Ulrich Zechner

J Clin Invest· April 2023

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A novel large in-frame deletion causes neonatal Marfan syndrome.
Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, Sebastian Fischer, Hanno J Bolz, Ulrich Zechner

Cold Spring Harb Mol Case Stud· October 2022

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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Inas S M Sayed, Ulrich Zechner, Hanno Jörn Bolz

J Hum Genet· January 2022

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KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, Mahmoud Koko, Ulrike B S Hedrich, Ulrich Zechner

Hum Mol Genet· November 2021

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Lipid presentation by the protein C receptor links coagulation with autoimmunity.
Nadine Müller-Calleja, Anne Hollerbach, Jennifer Royce, Svenja Ritter, Denise Pedrosa, Ulrich Zechner

Science· March 2021

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CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squamous cell carcinoma.
Maja Šutić, Jurica Baranašić, Lana Kovač Bilić, Mario Bilić, Antonija Jakovčević, Ulrich Zechner

Diagn Pathol· February 2021

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Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.
Alexis Cooper, Tamer Butto, Niklas Hammer, Somanath Jagannath, Desiree Lucia Fend-Guella, Ulrich Zechner

Nat Commun· January 2020

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Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Johannes Birtel, Martin Gliem, Kristina Hess, Theresa H Birtel, Frank G Holz, Ulrich Zechner

Genes (Basel)· January 2020

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Promoter methylation status of is associated with decreased overall survival and TNM status in patients with early stage non-small cell lung cancer (NSCLC).
Maja Šutić, Antje Motzek, Gordana Bubanović, Matthias Linke, Ivan Sabol, Ulrich Zechner

Transl Lung Cancer Res· December 2019

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Biallelic mutation of human encoding the taurine transporter TAUT is linked to early retinal degeneration.
Markus N Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit S Budde, Ulrich Zechner

FASEB J· October 2019

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Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.
Zoran S Gucev, Velibor B Tasic, Aleksandar Saveski, Momir H Polenakovic, Nevenka B Laban, Ulrich Zechner

Clin Dysmorphol· July 2019

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The DNA methylation profile of human spermatogonia at single-cell- and single-allele-resolution refutes its role in spermatogonial stem cell function and germ cell differentiation.
Desiree Lucia Fend-Guella, Kathrein von Kopylow, Andrej-Nikolai Spiess, Wolfgang Schulze, Andrea Salzbrunn, Ulrich Zechner

Mol Hum Reprod· June 2019

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Early-life adversity selectively impairs α2-GABA receptor expression in the mouse nucleus accumbens and influences the behavioral effects of cocaine.
Scott J Mitchell, Edward P Maguire, Linda Cunningham, Benjamin G Gunn, Matthias Linke, Ulrich Zechner

Neuropharmacology· October 2018

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Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse Zygotes.
Elif Diken, Matthias Linke, Jan Baumgart, Leonid Eshkind, Dennis Strand, Ulrich Zechner

Cytogenet Genome Res· October 2018

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Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.
Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner

Endocr Connect· January 2018

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Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner

Orphanet J Rare Dis· January 2018

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De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Ulrich Zechner

Clin Dysmorphol· July 2017

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The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration.
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Ulrich Zechner

Front Cell Neurosci· July 2017

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Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.
Ebtesam Abdalla, Oliver Bartsch, Danuta Galetzka, Ulrich Zechner

Am J Med Genet A· April 2017

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CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue.
Anna Etzold, Danuta Galetzka, Eva Weis, Oliver Bartsch, Thomas Haaf, Ulrich Zechner

Epigenetics· December 2016

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Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.
Florian Bohne, David Langer, Ursula Martiné, Claudia S Eider, Regina Cencic, Ulrich Zechner

Clin Epigenetics· December 2016

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Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
Antje Motzek, Jelena Knežević, Olivier J Switzeny, Alexis Cooper, Ivo Barić, Ulrich Zechner

PLoS One· August 2016

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