Publications by authors named "Denny Schanze"

55Publications

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Clin Dysmorphol 2020 Oct 7. Epub 2020 Oct 7.

Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000351DOI Listing
October 2020

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

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

Insulin-signaling abnormalities in drug-naïve first-episode schizophrenia: Transduction protein analyses in extracellular vesicles of putative neuronal origin.

Eur Psychiatry 2019 10 4;62:124-129. Epub 2019 Oct 4.

Department of Psychiatry and Psychotherapy, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany; Laboratory of Translational Psychiatry, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany; Center for Behavioral Brain Sciences (CBBS), Magdeburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eurpsy.2019.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941668PMC
October 2019

Safety and Efficacy of Topically Applied Selected Cutibacterium acnes Strains over Five Weeks in Patients with Acne Vulgaris: An Open-label, Pilot Study.

Acta Derm Venereol 2019 Dec;99(13):1253-1257

Department of Dermatology, University Hospital Magdeburg, University of Magdeburg, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.2340/00015555-3323DOI 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

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

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

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

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

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

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

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

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

Am J Med Genet A 2014 Dec 23;164A(12):3213-4. Epub 2014 Sep 23.

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

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http://doi.wiley.com/10.1002/ajmg.a.36765
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http://dx.doi.org/10.1002/ajmg.a.36765DOI Listing
December 2014

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

Front Syst Neurosci 2014 6;8:140. Epub 2014 Aug 6.

Department of Neurochemistry and Molecular Biology, 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, University of Magdeburg Magdeburg, Germany.

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http://dx.doi.org/10.3389/fnsys.2014.00140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123722PMC
August 2014

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Am J Med Genet A 2014 Mar 19;164A(3):837-40. Epub 2013 Dec 19.

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

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http://dx.doi.org/10.1002/ajmg.a.36343DOI Listing
March 2014

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Eur J Med Genet 2013 Feb 5;56(2):108-13. Epub 2012 Dec 5.

Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120030
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http://dx.doi.org/10.1016/j.ejmg.2012.11.001DOI Listing
February 2013

Mutations in GRIP1 cause Fraser syndrome.

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 7;159B(1):77-86. Epub 2011 Dec 7.

Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.b.32004DOI Listing
January 2012

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

BMC Bioinformatics 2010 Sep 21;11:472. Epub 2010 Sep 21.

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1186/1471-2105-11-472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949897PMC
September 2010