Udo Koehler

Udo Koehler

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Udo Koehler

Udo Koehler

Publications by authors named "Udo Koehler"

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21Publications

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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 Dec 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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http://dx.doi.org/10.1038/s41431-019-0472-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6870986PMC
December 2019

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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http://dx.doi.org/10.1002/cm.21479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585727PMC
January 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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http://dx.doi.org/10.1002/ccr3.1830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230649PMC
November 2018

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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http://dx.doi.org/10.1016/j.bcmd.2017.03.001DOI Listing
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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http://dx.doi.org/10.1007/s00439-017-1772-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360844PMC
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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http://dx.doi.org/10.1186/s13039-016-0219-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741010PMC
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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http://dx.doi.org/10.1038/ejhg.2014.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135419PMC
September 2014

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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http://dx.doi.org/10.1002/ajmg.a.36046DOI Listing
September 2013

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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http://dx.doi.org/10.1186/1750-1172-8-146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015352PMC
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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http://dx.doi.org/10.1055/s-0033-1333872DOI Listing
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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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/CBM-130297DOI Listing
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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http://dx.doi.org/10.1007/s13277-012-0568-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549409PMC
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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http://link.springer.com/content/pdf/10.1007/s00431-012-1682
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http://link.springer.com/10.1007/s00431-012-1682-z
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http://dx.doi.org/10.1007/s00431-012-1682-zDOI Listing
July 2012

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

Authors:
Ute Moog Kerstin Kutsche Fanny Kortüm Bettina Chilian Tatjana Bierhals Neophytos Apeshiotis Stefanie Balg Nicolas Chassaing Christine Coubes Soma Das Hartmut Engels Hilde Van Esch Ute Grasshoff Marisol Heise Bertrand Isidor Joanna Jarvis Udo Koehler Thomas Martin Barbara Oehl-Jaschkowitz Els Ortibus Daniela T Pilz Prab Prabhakar Gudrun Rappold Isabella Rau Günther Rettenberger Gregor Schlüter Richard H Scott Moonef Shoukier Eva Wohlleber Birgit Zirn William B Dobyns Gökhan Uyanik

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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http://dx.doi.org/10.1136/jmedgenet-2011-100218DOI Listing
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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http://dx.doi.org/10.1136/jmedgenet-2011-100050DOI Listing
August 2011

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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http://link.springer.com/content/pdf/10.1007/s00431-009-1057
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http://link.springer.com/10.1007/s00431-009-1057-2
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http://dx.doi.org/10.1007/s00431-009-1057-2DOI Listing
April 2010

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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http://dx.doi.org/10.1159/000248721DOI Listing
March 2010

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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http://link.springer.com/10.1007/s10544-008-9270-8
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http://dx.doi.org/10.1007/s10544-008-9270-8DOI Listing
June 2009

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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http://dx.doi.org/10.1093/hmg/ddp074DOI Listing
May 2009

A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.

Authors:
Udo Koehler Monika Grabowski Ulrike Bacher Elke Holinski-Feder

Cancer Genet Cytogenet 2007 May;175(1):81-4

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http://dx.doi.org/10.1016/j.cancergencyto.2007.01.008DOI Listing
May 2007

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

Authors:
Monika Grabowski Yvonne Mueller-Koch Eva Grasbon-Frodl Udo Koehler Gisela Keller Holger Vogelsang Wolfgang Dietmaier Reinhard Kopp Ulrike Siebers Wolfgang Schmitt Birgit Neitzel Maria Gruber Christa Doerner Brigitte Kerker Petra Ruemmele Gabriele Henke Elke Holinski-Feder

Genet Test 2005 ;9(2):138-46

Institute of Human Genetics, University of Munich, 80336 Munich, Germany.

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http://dx.doi.org/10.1089/gte.2005.9.138DOI Listing
May 2006