Publications by authors named "Martin Zenker"

100Publications

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Am J Med Genet A 2020 07 2;182(7):1681-1689. Epub 2020 Jun 2.

Institute of Human Genetics, University Hospital, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61610DOI Listing
July 2020

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.

Anticancer Res 2020 Jun;40(6):3423-3427

Institute of Human Genetics, Otto von Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.21873/anticanres.14327DOI Listing
June 2020

Long-term Culture of EBV-induced Human Lymphoblastoid Cell Lines Reveals Chromosomal Instability.

J Histochem Cytochem 2020 Apr 28;68(4):239-251. Epub 2020 Feb 28.

Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller University Jena, Jena, Germany.

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http://dx.doi.org/10.1369/0022155420910113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132824PMC
April 2020

Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy.

Cardiovasc Diagn Ther 2019 Oct;9(Suppl 2):S299-S309

Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.21037/cdt.2019.05.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837940PMC
October 2019

Variants in nuclear factor I genes influence growth and development.

Am J Med Genet C Semin Med Genet 2019 12 15;181(4):611-626. Epub 2019 Nov 15.

Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31747DOI Listing
December 2019

Adams-Oliver syndrome caused by mutations of the EOGT gene.

Am J Med Genet A 2019 11 31;179(11):2246-2251. Epub 2019 Jul 31.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61313DOI Listing
November 2019

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Am J Med Genet A 2019 05 25;179(5):832-836. Epub 2019 Feb 25.

Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61093DOI Listing
May 2019

Identifying facial phenotypes of genetic disorders using deep learning.

Nat Med 2019 01 7;25(1):60-64. Epub 2019 Jan 7.

Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, DE, USA.

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http://dx.doi.org/10.1038/s41591-018-0279-0DOI Listing
January 2019

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

Eur J Med Genet 2019 Dec 24;62(12):103608. Epub 2018 Dec 24.

Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183016
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http://dx.doi.org/10.1016/j.ejmg.2018.12.013DOI Listing
December 2019

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Pigment Cell Melanoma Res 2019 05 21;32(3):470-473. Epub 2018 Dec 21.

Institute of Human Genetics, University Hospital Otto-von-Guericke-University, Magdeburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12761DOI Listing
May 2019

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling.

Cell Commun Signal 2018 12 5;16(1):96. Epub 2018 Dec 5.

Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1186/s12964-018-0307-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282345PMC
December 2018

Food-Derived Xeno-microRNAs: Influence of Diet and Detectability in Gastrointestinal Tract-Proof-of-Principle Study.

Mol Nutr Food Res 2019 01 20;63(2):e1800076. Epub 2018 Nov 20.

Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University, Magdeburg, 39120, Germany.

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http://doi.wiley.com/10.1002/mnfr.201800076
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http://dx.doi.org/10.1002/mnfr.201800076DOI Listing
January 2019

Unrecognized juvenile nephropathic cystinosis.

Kidney Int 2018 Nov;94(5):1027

University Clinic for Nephrology and Hypertension, Diabetes and Endocrinology, Otto-von-Guericke-University, Magdeburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.06.001DOI Listing
November 2018

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Genetic basis of hypertrophic cardiomyopathy in children.

Clin Res Cardiol 2019 Mar 13;108(3):282-289. Epub 2018 Aug 13.

Department of Child Neurology, Justus-Liebig University, Giessen, Germany.

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http://dx.doi.org/10.1007/s00392-018-1354-8DOI Listing
March 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

PLoS Genet 2018 05 7;14(5):e1007370. Epub 2018 May 7.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1007370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937737PMC
May 2018

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Acta Derm Venereol 2018 Apr;98(5):534-535

Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Leipziger Str. 44, DE-39120 Magdeburg, Germany.

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http://dx.doi.org/10.2340/00015555-2883DOI Listing
April 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

Bone 2018 Jan 16;106:187-193. Epub 2017 Oct 16.

Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices, Civils de Lyon, 69677 Bron, France; INSERM, UMR 1033, Université Claude Bernard Lyon 1, Lyon, France; Service de Chirurgie Orthopédique Pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Institute of Human Genetics, University Hospital Magdeburg, Germany; Faculté de Médecine Lyon Est, Université de Lyon, France, Lyon. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.10.015DOI Listing
January 2018

Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency.

Klin Padiatr 2017 Sep 14;229(5):267-273. Epub 2017 Aug 14.

Department of General Paediatrics and Neonatology, Universitätsklinikum des Saarlandes, Homburg/Saar, Germany.

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http://dx.doi.org/10.1055/s-0043-115223DOI Listing
September 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation.

Cell Death Differ 2017 10 23;24(10):1739-1749. Epub 2017 Jun 23.

Department of Experimental Pediatrics, University Hospital, Health Campus Immunology, Infectiology and Inflammation, Otto-von-Guericke-University, Magdeburg 39120, Germany.

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http://dx.doi.org/10.1038/cdd.2017.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596418PMC
October 2017

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

Am J Med Genet A 2017 Apr 7;173(4):1017-1037. Epub 2017 Feb 7.

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38142DOI Listing
April 2017

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Eur J Med Genet 2017 Mar 19;60(3):190-194. Epub 2017 Jan 19.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.005DOI Listing
March 2017

Response to Calgani et al.

Genet Med 2016 12 29;18(12):1321. Epub 2016 Sep 29.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://www.nature.com/articles/gim2016138
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http://dx.doi.org/10.1038/gim.2016.138DOI Listing
December 2016

Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family.

Clin Dysmorphol 2016 Oct;25(4):181-5

aGenetic and Metabolic Clinic, Department of Pediatrics Departments of bPediatrics cAnatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh dDivision of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India eInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000127DOI Listing
October 2016

Germline mutations are not associated with Noonan syndrome.

J Med Genet 2016 Nov 7;53(11):728. Epub 2016 Apr 7.

Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-103889DOI Listing
November 2016

Oblique facial clefts in Johanson-Blizzard syndrome.

Am J Med Genet A 2016 06 17;170(6):1495-501. Epub 2016 Mar 17.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37630DOI Listing
June 2016

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.

J Neurol Sci 2015 Nov 28;358(1-2):515-7. Epub 2015 Sep 28.

German Center for Neurodegenerative Disease, Leipziger Straße 44, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.jns.2015.09.370DOI Listing
November 2015

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Gene 2015 Oct 3;570(1):153-5. Epub 2015 Jul 3.

Department of Pediatric Gastroenterology, Hepatology and Nutrition, School of Medicine, Ege University, Izmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119150080
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http://dx.doi.org/10.1016/j.gene.2015.06.082DOI Listing
October 2015

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Am J Med Genet A 2015 Nov 14;167A(11):2685-90. Epub 2015 May 14.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37155DOI Listing
November 2015

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.

Front Syst Neurosci 2015 11;9:36. Epub 2015 Mar 11.

Department of Neurochemistry and Molecular Biology and Department of Behavioral Neurology, Leibniz Institute for Neurobiology Magdeburg, Germany ; Center for Behavioral Brain Sciences, Otto von Guericke University of Magdeburg Magdeburg, Germany ; Department of Psychiatry, Charité University Hospital Berlin, Germany ; Department of Neurology, Otto von Guericke University Magdeburg, Germany.

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http://dx.doi.org/10.3389/fnsys.2015.00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356065PMC
March 2015

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo.

EMBO J 2015 Apr 4;34(8):1056-77. Epub 2015 Feb 4.

Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, Magdeburg, Germany Research Group Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany Center for Behavioral Brain Science, Otto von Guericke University, Magdeburg, Germany

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http://dx.doi.org/10.15252/embj.201488796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406652PMC
April 2015