Udo Koehler

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Authors:

Monika Morak Kerstin Schaefer Verena Steinke-Lange Udo Koehler Susanne Keinath Trisari Massdorf Brigitte Mauracher Nils Rahner Jessica Bailey Christiane Kling Tanja Haeusser Andreas Laner Elke Holinski-Feder

Eur J Hum Genet 2019 12 22;27(12):1808-1820. Epub 2019 Jul 22.

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Ziemssenstr. 1, 80336, Munich, Germany.

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December 2019

Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.

Authors:

Ariane Hallermayr Janine Graf Udo Koehler Andreas Laner Brigitte Schönfeld Anna Benet-Pagès Elke Holinski-Feder

Clin Case Rep 2018 Nov 11;6(11):2224-2228. Epub 2018 Oct 11.

MGZ - Medical Genetics Center Munich Germany.

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November 2018

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Authors:

Katharina Neubauer Doris Boeckelmann Udo Koehler Julia Kracht Janbernd Kirschner Manuela Pendziwiat Barbara Zieger

Cytoskeleton (Hoboken) 2019 01 10;76(1):131-136. Epub 2018 Oct 10.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany.

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January 2019

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.

Authors:

Kirstin Sandrock-Lang Ingrid Bartsch Nina Buechele Udo Koehler Carl Philipp Simon-Gabriel Matthias Eckenweiler Barbara Zieger

Blood Cells Mol Dis 2017 09 6;67:75-80. Epub 2017 Mar 6.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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September 2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Authors:

Christel Depienne Caroline Nava Boris Keren Solveig Heide Agnès Rastetter Sandrine Passemard Sandra Chantot-Bastaraud Marie-Laure Moutard Pankaj B Agrawal Grace VanNoy Joan M Stoler David J Amor Thierry Billette de Villemeur Diane Doummar Caroline Alby Valérie Cormier-Daire Catherine Garel Pauline Marzin Sophie Scheidecker Anne de Saint-Martin Edouard Hirsch Christian Korff Armand Bottani Laurence Faivre Alain Verloes Christine Orzechowski Lydie Burglen Bruno Leheup Joelle Roume Joris Andrieux Frenny Sheth Chaitanya Datar Michael J Parker Laurent Pasquier Sylvie Odent Sophie Naudion Marie-Ange Delrue Cédric Le Caignec Marie Vincent Bertrand Isidor Florence Renaldo Fiona Stewart Annick Toutain Udo Koehler Birgit Häckl Celina von Stülpnagel Gerhard Kluger Rikke S Møller Deb Pal Tord Jonson Maria Soller Nienke E Verbeek Mieke M van Haelst Carolien de Kovel Bobby Koeleman Glen Monroe Gijs van Haaften Tania Attié-Bitach Lucile Boutaud Delphine Héron Cyril Mignot

Hum Genet 2017 04 10;136(4):463-479. Epub 2017 Mar 10.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.

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April 2017

CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.

Authors:

Emanuele G Coci Udo Koehler Thomas Liehr Armin Stelzner Christian Fink Hendrik Langen Joachim Riedel

Mol Cytogenet 2016 3;9:10. Epub 2016 Feb 3.

Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.

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February 2016

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Authors:

Udo Koehler Brigitte Pabst Barbara Pober Beth Kozel

Eur J Hum Genet 2014 Sep 26;22(9). Epub 2014 Feb 26.

Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

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September 2014

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

Authors:

Johanna Christina Czeschik Peter Bauer Karin Buiting Claudia Dufke Encarna Guillén-Navarro Diana S Johnson Udo Koehler Vanesa López-González Hermann-Josef Lüdecke Alison Male Deborah Morrogh Angelika Rieß Andreas Tzschach Dagmar Wieczorek Alma Kuechler

Orphanet J Rare Dis 2013 Sep 21;8:146. Epub 2013 Sep 21.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr, 55, 45122, Essen, Germany.

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September 2013

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Authors:

Nicola Dikow Bianca Maas Harald Gaspar Martina Kreiss-Nachtsheim Hartmut Engels Alma Kuechler Lutz Garbes Christian Netzer Teresa M Neuhann Udo Koehler Kristina Casteels Koen Devriendt Johannes W G Janssen Anna Jauch Katrin Hinderhofer Ute Moog

Am J Med Genet A 2013 Sep 2;161A(9):2158-66. Epub 2013 Aug 2.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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September 2013

Generalized epilepsy in two patients with 5p duplication.

Authors:

Gerhard Kluger Udo Koehler Teresa M Neuhann Tom Pieper Martin Staudt Celina von Stülpnagel

Neuropediatrics 2013 Aug 12;44(4):225-9. Epub 2013 Mar 12.

Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.

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August 2013

CD133 is a predictor of poor survival in head and neck squamous cell carcinomas.

Authors:

Martin Canis Axel Lechner Brigitte Mack Pamela Zengel Rüdiger Paul Laubender Udo Koehler Vigo Heissmeyer Olivier Gires

Cancer Biomark 2012 ;12(2):97-105

Department of Otorhinolaryngology, Head and Neck Surgery, Grosshadern Medical Center, Ludwig Maximilians University of Munich, Munich, Germany.

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June 2013

CD133 induces tumour-initiating properties in HEK293 cells.

Authors:

Martin Canis Axel Lechner Brigitte Mack Pamela Zengel Rüdiger Paul Laubender Udo Koehler Vigo Heissmeyer Olivier Gires

Tumour Biol 2013 Feb 13;34(1):437-43. Epub 2012 Nov 13.

Department of Otorhinolaryngology, Head and Neck Surgery, Grosshadern Medical Centre, Ludwig-Maximilians University of Munich, Marchioninistr. 15, 81377, Munich, Germany.

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February 2013

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.

Authors:

Beate Schmidt Floris Udink ten Cate Michael Weiss Udo Koehler

Eur J Pediatr 2012 Jul;171(7):1047-53

Children’s Hospital Cologne, Cologne, Germany.

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July 2012

Phenotypic spectrum associated with CASK loss-of-function mutations.

J Med Genet 2011 Nov 27;48(11):741-51. Epub 2011 Sep 27.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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November 2011

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Authors:

Monika Morak Udo Koehler Hans Konrad Schackert Verena Steinke Brigitte Royer-Pokora Karsten Schulmann Matthias Kloor Wilhelm Höchter Josef Weingart Cortina Keiling Trisari Massdorf Elke Holinski-Feder

J Med Genet 2011 Aug 28;48(8):513-9. Epub 2011 Jun 28.

Medical Department, Campus Innenstadt, Klinikum der Universität, Munich, Germany; MGZ-Center of Medical Genetics, Munich, Germany.

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August 2011

Single cell analysis of mutations in the APC gene.

Authors:

Veronika Mayer Ulrike Schoen Elke Holinski-Feder Udo Koehler Stefan Thalhammer

Fetal Diagn Ther 2009 13;26(3):148-56. Epub 2009 Oct 13.

Helmholtz Zentrum Munich, German Research Center for Environmental Health, Institute of Radiation Protection, Neuherberg, Germany.

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March 2010

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.

Authors:

Udo Koehler Elke Holinski-Feder Birgit Ertl-Wagner Juergen Kunz Arpad von Moers Hubertus von Voss Chayim Schell-Apacik

Eur J Pediatr 2010 Apr 8;169(4):463-8. Epub 2009 Sep 8.

Medizinisch Genetisches Zentrum München, Bayerstr. 3-5, 80335, Munich, Germany.

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April 2010

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Authors:

Stefanie Bulst Angela Abicht Elke Holinski-Feder Solvig Müller-Ziermann Udo Koehler Christian Thirion Maggie C Walter Joanna D Stewart Patrick F Chinnery Hanns Lochmüller Rita Horvath

Hum Mol Genet 2009 May 16;18(9):1590-9. Epub 2009 Feb 16.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany.

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May 2009

Single particle adsorbing transfer system.

Authors:

Daniela Woide Veronika Mayer Thorsten Wachtmeister Norbert Hoehn Albert Zink Udo Koehler Stefan Thalhammer

Biomed Microdevices 2009 Jun;11(3):609-14

Helmholtz Zentrum Munich, German Research Center for Environmental Health, Institute of Radiation Protection, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany.

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June 2009