Publications by authors named "Udo Koehler"

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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders, Alfredo Brusco, Udo Koehler

Eur J Hum Genet· September 2025

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Genome Mapping Nomenclature.
Sarah Moore, Jean McGowan-Jordan, Adam C Smith, Katrina Rack, Udo Koehler

Cytogenet Genome Res· May 2024

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Udo Koehler

Genes (Basel)· March 2024

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Constitutional chromothripsis of the locus as a cause of genetic predisposition to colon cancer.
Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Udo Koehler

J Med Genet· October 2022

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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Udo Koehler

Eur J Hum Genet· September 2022

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A Novel Likely Pathogenic Variant in the Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura

Cells· October 2021

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Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.
Emanuele G Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink

Mol Cytogenet· March 2021

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Monika Morak, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Susanne Keinath

Eur J Hum Genet· December 2019

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Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
Katharina Neubauer, Doris Boeckelmann, Udo Koehler, Julia Kracht, Janbernd Kirschner

Cytoskeleton (Hoboken)· January 2019

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Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.
Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld

Clin Case Rep· November 2018

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Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.
Kirstin Sandrock-Lang, Ingrid Bartsch, Nina Buechele, Udo Koehler, Carl Philipp Simon-Gabriel

Blood Cells Mol Dis· September 2017

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Udo Koehler

Hum Genet· April 2017

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CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.
Emanuele G Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink

Mol Cytogenet· February 2016

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Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
Udo Koehler, Brigitte Pabst, Barbara Pober, Beth Kozel

Eur J Hum Genet· September 2014

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Nicola Dikow, Bianca Maas, Harald Gaspar, Martina Kreiss-Nachtsheim, Hartmut Engels, Udo Koehler

Am J Med Genet A· September 2013

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Udo Koehler

Orphanet J Rare Dis· September 2013

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Generalized epilepsy in two patients with 5p duplication.
Gerhard Kluger, Udo Koehler, Teresa M Neuhann, Tom Pieper, Martin Staudt

Neuropediatrics· August 2013

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CD133 is a predictor of poor survival in head and neck squamous cell carcinomas.
Martin Canis, Axel Lechner, Brigitte Mack, Pamela Zengel, Rüdiger Paul Laubender, Udo Koehler

Cancer Biomark· June 2013

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CD133 induces tumour-initiating properties in HEK293 cells.
Martin Canis, Axel Lechner, Brigitte Mack, Pamela Zengel, Rüdiger Paul Laubender, Udo Koehler

Tumour Biol· February 2013

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Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.
Beate Schmidt, Floris Udink ten Cate, Michael Weiss, Udo Koehler

Eur J Pediatr· July 2012

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Phenotypic spectrum associated with CASK loss-of-function mutations.
Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Udo Koehler

J Med Genet· November 2011

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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
Monika Morak, Udo Koehler, Hans Konrad Schackert, Verena Steinke, Brigitte Royer-Pokora

J Med Genet· August 2011

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A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
Udo Koehler, Elke Holinski-Feder, Birgit Ertl-Wagner, Juergen Kunz, Arpad von Moers

Eur J Pediatr· April 2010

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Single cell analysis of mutations in the APC gene.
Veronika Mayer, Ulrike Schoen, Elke Holinski-Feder, Udo Koehler, Stefan Thalhammer

Fetal Diagn Ther· March 2010

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In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Stefanie Bulst, Angela Abicht, Elke Holinski-Feder, Solvig Müller-Ziermann, Udo Koehler

Hum Mol Genet· May 2009

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