Thomas Haaf

Thomas Haaf

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Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.

Aging Cell 2019 Jul 1:e12995. Epub 2019 Jul 1.

Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.

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http://dx.doi.org/10.1111/acel.12995DOI Listing
July 2019

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.

Eur J Med Genet 2019 Jul 14:103724. Epub 2019 Jul 14.

Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Department of Otorhinolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103724DOI Listing
July 2019

A Note from the New Editor.

Cytogenet Genome Res 2019 Jun 26. Epub 2019 Jun 26.

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http://dx.doi.org/10.1159/000501440DOI Listing
June 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Prenatal and postnatal experiences associated with epigenetic changes in the adult mouse brain.

Behav Brain Res 2019 02 29;359:143-148. Epub 2018 Oct 29.

Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01664328183120
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http://dx.doi.org/10.1016/j.bbr.2018.10.037DOI Listing
February 2019

Phenotypic Characterization of DFNB16-associated Hearing Loss.

Otol Neurotol 2019 Jan;40(1):e48-e55

Department of Oto-Rhino-Laryngology, Head and Neck Surgery "Otto Körner", University Hospital Rostock, Rostock, Germany.

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http://dx.doi.org/10.1097/MAO.0000000000002059DOI Listing
January 2019

Assessing the epigenetic risks of assisted reproductive technologies: a way forward.

Int J Dev Biol 2019 ;63(3-4-5):217-222

Małopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.

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http://www.intjdevbiol.com/paper.php?doi=180402gp
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http://dx.doi.org/10.1387/ijdb.180402gpDOI Listing
January 2019

Genetic and epigenetic changes in clonal descendants of irradiated human fibroblasts.

Exp Cell Res 2018 Sep 28;370(2):322-332. Epub 2018 Jun 28.

Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2018.06.034DOI Listing
September 2018

Hereditary hearing loss SNP-microarray pilot study.

BMC Res Notes 2018 Jun 14;11(1):391. Epub 2018 Jun 14.

Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.

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http://dx.doi.org/10.1186/s13104-018-3466-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003021PMC
June 2018

Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3.

Stem Cell Res 2018 04 13;28:136-140. Epub 2018 Feb 13.

Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany; Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, Sechenov First Moscow State Medical University, Moscow, Russia; Department of Translational Neuroscience, School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183004
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http://dx.doi.org/10.1016/j.scr.2018.02.005DOI Listing
April 2018

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Ear Hear 2016 Jul-Aug;37(4):e238-46

1Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany; 2Institute of Human Genetics, 3Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany; and 4Division of Communication Disorders, Department of Otorhinolaryngology, University Medical Centre, Mainz, Germany.

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http://dx.doi.org/10.1097/AUD.0000000000000278DOI Listing
January 2018

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Mol Syndromol 2017 Dec 22;9(1):5-14. Epub 2017 Sep 22.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1159/000480458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803684PMC
December 2017

Epigenetic dysregulation of protocadherins in human disease.

Semin Cell Dev Biol 2017 09 8;69:172-182. Epub 2017 Jul 8.

Institute of Human Genetics, Julius Maximilians University, Biozentrum, Am Hubland, Würzburg, Germany.

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http://dx.doi.org/10.1016/j.semcdb.2017.07.007DOI Listing
September 2017

DNA methylation signatures in cord blood of ICSI children.

Hum Reprod 2017 08;32(8):1761-1769

Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.

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http://dx.doi.org/10.1093/humrep/dex209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850272PMC
August 2017

Epigenetic signatures of gestational diabetes mellitus on cord blood methylation.

Clin Epigenetics 2017 27;9:28. Epub 2017 Mar 27.

Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany.

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http://dx.doi.org/10.1186/s13148-017-0329-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368916PMC
July 2017

Genetics of Tinnitus: Still in its Infancy.

Front Neurosci 2017 8;11:236. Epub 2017 May 8.

Institute of Human Genetics, Julius Maximilians University WürzburgWürzburg, Germany.

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http://dx.doi.org/10.3389/fnins.2017.00236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421307PMC
May 2017

Gene expression and epigenetic aberrations in F1-placentas fathered by obese males.

Mol Reprod Dev 2017 04 3;84(4):316-328. Epub 2017 Mar 3.

Institute of Human Genetics, Julius Maximillians University, Biozentrum, Am Hubland, Würzburg, Germany.

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http://dx.doi.org/10.1002/mrd.22784DOI Listing
April 2017

Accelerated epigenetic aging in Werner syndrome.

Aging (Albany NY) 2017 04;9(4):1143-1152

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.18632/aging.101217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425119PMC
April 2017

Disease Manifestation and Inflammatory Activity as Modulators of Th17/Treg Balance and RORC/FoxP3 Methylation in Systemic Sclerosis.

Int Arch Allergy Immunol 2016 1;171(2):141-154. Epub 2016 Dec 1.

Division of Pediatric Rheumatology, and Special Immunology, University Hospital Würzburg, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000450949DOI Listing
February 2017

DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas.

Cell 2016 11 27;167(5):1264-1280.e18. Epub 2016 Oct 27.

Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Center of Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.09.054DOI Listing
November 2016

CpG sites with continuously increasing or decreasing methylation from early to late human fetal brain development.

Gene 2016 Oct 25;592(1):110-118. Epub 2016 Jul 25.

Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.07.058DOI Listing
October 2016

DNA methylation and mRNA expression of developmentally important genes in bovine oocytes collected from donors of different age categories.

Mol Reprod Dev 2016 09 20;83(9):802-814. Epub 2016 Sep 20.

Institute of Farm Animal Genetics (FLI), Mariensee, Neustadt, Germany.

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http://dx.doi.org/10.1002/mrd.22692DOI Listing
September 2016

Epigenetic dysregulation in the developing Down syndrome cortex.

Epigenetics 2016 08 31;11(8):563-78. Epub 2016 May 31.

a Institute of Human Genetics, Julius Maximilians University , Würzburg , Germany.

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http://dx.doi.org/10.1080/15592294.2016.1192736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990229PMC
August 2016

Limiting Dilution Bisulfite Pyrosequencing®: A Method for Methylation Analysis of Individual DNA Molecules in a Single or a Few Cells.

Methods Mol Biol 2015 ;1315:221-39

Institute of Human Genetics, Julius-Maximilians University Würzburg, Würzburg, 97074, Germany.

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http://dx.doi.org/10.1007/978-1-4939-2715-9_17DOI Listing
March 2016

Third Report on Chicken Genes and Chromosomes 2015.

Authors:
Michael Schmid Jacqueline Smith David W Burt Bronwen L Aken Parker B Antin Alan L Archibald Chris Ashwell Perry J Blackshear Clarissa Boschiero C Titus Brown Shane C Burgess Hans H Cheng William Chow Derrick J Coble Amanda Cooksey Richard P M A Crooijmans Joana Damas Richard V N Davis Dirk-Jan de Koning Mary E Delany Thomas Derrien Takele T Desta Ian C Dunn Matthew Dunn Hans Ellegren Lél Eöry Ionas Erb Marta Farré Mario Fasold Damarius Fleming Paul Flicek Katie E Fowler Laure Frésard David P Froman Valerie Garceau Paul P Gardner Almas A Gheyas Darren K Griffin Martien A M Groenen Thomas Haaf Olivier Hanotte Alan Hart Julien Häsler S Blair Hedges Jana Hertel Kerstin Howe Allen Hubbard David A Hume Pete Kaiser Darek Kedra Stephen J Kemp Christophe Klopp Kalmia E Kniel Richard Kuo Sandrine Lagarrigue Susan J Lamont Denis M Larkin Raman A Lawal Sarah M Markland Fiona McCarthy Heather A McCormack Marla C McPherson Akira Motegi Stefan A Muljo Andrea Münsterberg Rishi Nag Indrajit Nanda Michael Neuberger Anne Nitsche Cedric Notredame Harry Noyes Rebecca O'Connor Elizabeth A O'Hare Andrew J Oler Sheila C Ommeh Helio Pais Michael Persia Frédérique Pitel Likit Preeyanon Pablo Prieto Barja Elizabeth M Pritchett Douglas D Rhoads Charmaine M Robinson Michael N Romanov Max Rothschild Pierre-François Roux Carl J Schmidt Alisa-Sophia Schneider Matthew G Schwartz Steve M Searle Michael A Skinner Craig A Smith Peter F Stadler Tammy E Steeves Claus Steinlein Liang Sun Minoru Takata Igor Ulitsky Qing Wang Ying Wang Wesley C Warren Jonathan M D Wood David Wragg Huaijun Zhou

Cytogenet Genome Res 2015 14;145(2):78-179. Epub 2015 Jul 14.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000430927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120589PMC
October 2015

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

Mol Cell Probes 2015 Oct 3;29(5):260-70. Epub 2015 Apr 3.

Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.

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http://dx.doi.org/10.1016/j.mcp.2015.03.008DOI Listing
October 2015

Extended in vitro maturation affects gene expression and DNA methylation in bovine oocytes.

Mol Hum Reprod 2015 Oct 8;21(10):770-82. Epub 2015 Jul 8.

Institute of Farm Animal Genetics (FLI), Mariensee, 31535 Neustadt, Germany

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http://dx.doi.org/10.1093/molehr/gav040DOI Listing
October 2015

Third Report on Chicken Genes and Chromosomes 2015.

Authors:
Michael Schmid Jacqueline Smith David W Burt Bronwen L Aken Parker B Antin Alan L Archibald Chris Ashwell Perry J Blackshear Clarissa Boschiero C Titus Brown Shane C Burgess Hans H Cheng William Chow Derrick J Coble Amanda Cooksey Richard P M A Crooijmans Joana Damas Richard V N Davis Dirk-Jan de Koning Mary E Delany Thomas Derrien Takele T Desta Ian C Dunn Matthew Dunn Hans Ellegren Lél Eöry Ionas Erb Marta Farré Mario Fasold Damarius Fleming Paul Flicek Katie E Fowler Laure Frésard David P Froman Valerie Garceau Paul P Gardner Almas A Gheyas Darren K Griffin Martien A M Groenen Thomas Haaf Olivier Hanotte Alan Hart Julien Häsler S Blair Hedges Jana Hertel Kerstin Howe Allen Hubbard David A Hume Pete Kaiser Darek Kedra Stephen J Kemp Christophe Klopp Kalmia E Kniel Richard Kuo Sandrine Lagarrigue Susan J Lamont Denis M Larkin Raman A Lawal Sarah M Markland Fiona McCarthy Heather A McCormack Marla C McPherson Akira Motegi Stefan A Muljo Andrea Münsterberg Rishi Nag Indrajit Nanda Michael Neuberger Anne Nitsche Cedric Notredame Harry Noyes Rebecca O'Connor Elizabeth A O'Hare Andrew J Oler Sheila C Ommeh Helio Pais Michael Persia Frédérique Pitel Likit Preeyanon Pablo Prieto Barja Elizabeth M Pritchett Douglas D Rhoads Charmaine M Robinson Michael N Romanov Max Rothschild Pierre-François Roux Carl J Schmidt Alisa-Sophia Schneider Matthew G Schwartz Steve M Searle Michael A Skinner Craig A Smith Peter F Stadler Tammy E Steeves Claus Steinlein Liang Sun Minoru Takata Igor Ulitsky Qing Wang Ying Wang Wesley C Warren Jonathan M D Wood David Wragg Huaijun Zhou

Cytogenet Genome Res 2015 14;145(2):78-179. Epub 2015 Jul 14.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000430927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120589PMC
October 2015

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.

Mol Syndromol 2015 Oct 3;6(4):156-63. Epub 2015 Sep 3.

Department of Human Genetics, Julius Maximilian University, Würzburg, Germany.

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http://dx.doi.org/10.1159/000439576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662267PMC
October 2015

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Mol Syndromol 2015 Sep 15;6(3):110-34. Epub 2015 Aug 15.

Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000438812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698629PMC
September 2015

Epigenetic information from ancient DNA provides new insights into human evolution. Commentary on Gokhman D et al. (2014): Reconstructing the DNA methylation maps of the Neanderthal and the Denisovan. Science 344:523-527.

Brain Behav Evol 2014 24;84(3):169-71. Epub 2014 Sep 24.

Institute of Human Genetics, Julius Maximilian University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000365650DOI Listing
May 2015

Cytogenetic studies on Gonatodes (Reptilia, Squamata, Sphaerodactylidae).

Cytogenet Genome Res 2014 21;144(1):47-61. Epub 2014 Oct 21.

Department of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000367929DOI Listing
February 2015

Epigenetics and life-long consequences of an adverse nutritional and diabetic intrauterine environment.

Reproduction 2014 Dec 3;148(6):R111-20. Epub 2014 Sep 3.

Institute of Human GeneticsJulius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, GermanyDepartment of Gynecology and ObstetricsStädtische Kliniken, 41239 Mönchengladbach, Germany

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http://www.reproduction-online.org/content/early/2014/09/03/
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http://www.reproduction-online.org/cgi/doi/10.1530/REP-14-03
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http://dx.doi.org/10.1530/REP-14-0334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241689PMC
December 2014

Nascent ZW sex chromosomes in Thecadactylus rapicauda (Reptilia, Squamata, Phyllodactylidae).

Cytogenet Genome Res 2014 18;143(4):259-67. Epub 2014 Sep 18.

Department of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000366212DOI Listing
December 2014

Sex chromosome polymorphism in guppies.

Chromosoma 2014 Aug 28;123(4):373-83. Epub 2014 Mar 28.

Biocenter, Institute for Human Genetics, Am Hubland, 97074, Würzburg, Germany.

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http://dx.doi.org/10.1007/s00412-014-0455-zDOI Listing
August 2014

Genome-wide quantitative analysis of DNA methylation from bisulfite sequencing data.

Bioinformatics 2014 Jul 10;30(13):1933-4. Epub 2014 Mar 10.

Tresch Group, Max Planck Institute for Plant Breeding Research, 50829 Cologne, Germany, AG Haaf, Institute of Human Genetics, Julius Maximilians University, 97070 Wuerzburg, Germany and Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071208PMC
July 2014

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

BMC Med Genet 2014 Jun 25;15:72. Epub 2014 Jun 25.

Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany.

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http://dx.doi.org/10.1186/1471-2350-15-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077152PMC
June 2014

Chronic exposure to a low concentration of bisphenol A during follicle culture affects the epigenetic status of germinal vesicles and metaphase II oocytes.

Fertil Steril 2013 Dec 11;100(6):1758-67.e1. Epub 2013 Sep 11.

Institute of Gene Technology/Microbiology, University of Bielefeld, Bielefeld, Germany.

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http://dx.doi.org/10.1016/j.fertnstert.2013.08.021DOI Listing
December 2013

Confirmation of GRHL2 as the gene for the DFNA28 locus.

Am J Med Genet A 2013 Aug 27;161A(8):2060-5. Epub 2013 Jun 27.

Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884766PMC
August 2013

Epigenetics of gestational diabetes mellitus and offspring health: the time for action is in early stages of life.

Mol Hum Reprod 2013 Jul 20;19(7):415-22. Epub 2013 Mar 20.

Department of Gynecology and Obstetrics, Municipal Clinics, Hafenstrasse 100, 41239 Moenchengladbach, Germany.

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http://dx.doi.org/10.1093/molehr/gat020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690806PMC
July 2013

Epigenetic disturbances in in vitro cultured gametes and embryos: implications for human assisted reproduction.

Fertil Steril 2013 Mar 26;99(3):632-41. Epub 2013 Jan 26.

Institute of Human Genetics, Julius Maximilians University, Wuerzburg, Germany.

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http://dx.doi.org/10.1016/j.fertnstert.2012.12.044DOI Listing
March 2013

Searching for gene expression differences in primary fibroblasts between patients with one and two neoplasms in childhood.

Pediatr Hematol Oncol 2013 Feb 9;30(1):33-45. Epub 2012 Nov 9.

Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.3109/08880018.2012.735747DOI Listing
February 2013

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Eur J Med Genet 2012 Jan 27;55(1):49-55. Epub 2011 Aug 27.

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.08.001DOI Listing
January 2012

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Am J Med Genet A 2011 Feb 28;155A(2):372-9. Epub 2010 Oct 28.

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

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http://dx.doi.org/10.1002/ajmg.a.33656DOI Listing
February 2011

DNA integrity, growth pattern, spindle formation, chromosomal constitution and imprinting patterns of mouse oocytes from vitrified pre-antral follicles.

Hum Reprod 2010 Dec 12;25(12):3025-42. Epub 2010 Oct 12.

Faculty of Biology, Gene Technology/Microbiology, University of Bielefeld, Bielefeld, Germany.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/deq278DOI Listing
December 2010

Achalasia: will genetic studies provide insights?

Hum Genet 2010 Oct 11;128(4):353-64. Epub 2010 Aug 11.

Department of General and Abdominal Surgery, Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-010-0874-8DOI Listing
October 2010

Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception.

Mol Hum Reprod 2010 Sep 9;16(9):704-13. Epub 2009 Dec 9.

Institute of Human Genetics, Johannes Gutenberg University, 55101 Mainz, Germany.

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http://dx.doi.org/10.1093/molehr/gap107DOI Listing
September 2010

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Am J Med Genet A 2010 Sep;152A(9):2254-61

Institut für Humangenetik, Universitätsmedizin der Johannes-Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33598DOI Listing
September 2010

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Am J Med Genet A 2010 Aug;152A(8):2099-102

Johannes Gutenberg-University Mainz, Institute of Human Genetics, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33542DOI Listing
August 2010

Single cell RT-PCR on mouse embryos: a general approach for developmental biology.

Methods Mol Biol 2010 ;630:3-12

Olympus Life Science Research Europe, München, Germany.

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http://dx.doi.org/10.1007/978-1-60761-629-0_1DOI Listing
June 2010

Outcome of intracytoplasmic sperm injection with and without polar body diagnosis of oocytes.

Fertil Steril 2010 Feb 1;93(2):405-15. Epub 2009 Apr 1.

Institute for Human Genetics, Johannes Gutenberg University, Langenbeckstrasse 1, Bldg. 601, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.fertnstert.2009.02.064DOI Listing
February 2010

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Neurogenetics 2010 Feb 7;11(1):81-9. Epub 2009 Jul 7.

Department of Medical Genetics, University Medical Centre Utrecht, Mail stop: KC.04.084.2, P. O. Box 85090, 3508, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10048-009-0205-1DOI Listing
February 2010

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Am J Med Genet A 2010 Feb;152A(2):305-12

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33198DOI Listing
February 2010

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Am J Med Genet A 2010 Jan;152A(1):181-4

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Langenbeckstrasse 1, D-55131 Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33153DOI Listing
January 2010

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Am J Med Genet A 2009 Oct;149A(10):2236-40

Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32993DOI Listing
October 2009

Comparative methylation profiles and telomerase biology of mouse multipotent adult germline stem cells and embryonic stem cells.

Mol Hum Reprod 2009 Jun 18;15(6):345-53. Epub 2009 Mar 18.

Institute of Human Genetics, Johannes Gutenberg-University Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany.

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http://dx.doi.org/10.1093/molehr/gap023DOI Listing
June 2009

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.

Eur J Med Genet 2009 Jan-Feb;52(1):27-30. Epub 2008 Nov 19.

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

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http://dx.doi.org/10.1016/j.ejmg.2008.11.002DOI Listing
April 2009