Guntram Borck

Guntram Borck

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Guntram Borck

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Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

J Endocr Soc 2019 Jan 17;3(1):27-41. Epub 2018 Sep 17.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1210/js.2018-00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293235PMC
January 2019

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

Int J Obes (Lond) 2018 09 27;42(9):1602-1609. Epub 2018 Feb 27.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Eythstr. 24, D-89075, Ulm, Germany.

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http://dx.doi.org/10.1038/s41366-018-0049-6DOI Listing
September 2018

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Ann Hum Genet 2018 07 12;82(4):232-238. Epub 2018 Feb 12.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/ahg.12244DOI Listing
July 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

J Allergy Clin Immunol 2018 01 5;141(1):408-411.e8. Epub 2017 Aug 5.

Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.043DOI Listing
January 2018

Mutations of PTPN23 in developmental and epileptic encephalopathy.

Hum Genet 2017 11 31;136(11-12):1455-1461. Epub 2017 Oct 31.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-017-1850-3DOI Listing
November 2017

Estimated prevalence of potentially damaging variants in the leptin gene.

Mol Cell Pediatr 2017 Nov 3;4(1):10. Epub 2017 Nov 3.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Eythstr. 24, D-89075, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0074-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670095PMC
November 2017

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Am J Med Genet A 2017 Aug 25;173(8):2289-2292. Epub 2017 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.38286DOI Listing
August 2017

Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 09;48(10):1296

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http://dx.doi.org/10.1038/ng1016-1296cDOI Listing
September 2016

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 08 20;48(8):856-66. Epub 2016 Jun 20.

Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://biorxiv.org/content/biorxiv/early/2015/11/02/030288.f
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http://dx.doi.org/10.1038/ng.3598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331903PMC
August 2016

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Am J Med Genet A 2016 May 29;170A(5):1202-7. Epub 2016 Jan 29.

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

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http://dx.doi.org/10.1002/ajmg.a.37560DOI Listing
May 2016

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Am J Med Genet A 2015 Dec 3;167A(12):3006-10. Epub 2015 Sep 3.

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

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http://dx.doi.org/10.1002/ajmg.a.37343DOI Listing
December 2015

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Mol Cell Probes 2015 Oct 13;29(5):330-4. Epub 2015 Jul 13.

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

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http://dx.doi.org/10.1016/j.mcp.2015.07.003DOI Listing
October 2015

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.

Cancer Res 2015 Sep 24;75(18):3936-45. Epub 2015 Jul 24.

Cancer Epigenetics Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain. Department of Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Catalonia, Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1158/0008-5472.CAN-14-3702DOI Listing
September 2015

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.

Am J Med Genet A 2015 Mar;167A(3):670-3

Section of Phoniatrics and Pedaudiology, Department of Otolaryngology - Head and Neck Surgery, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36891DOI Listing
March 2015

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Eur J Hum Genet 2014 Jun 16;22(6):726-33. Epub 2013 Oct 16.

1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023204PMC
June 2014

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.

Am J Med Genet A 2013 Oct 15;161A(10):2672-4. Epub 2013 Aug 15.

Institute of Human Genetics, University of Ulm, Ulm, Germany; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.36125DOI Listing
October 2013

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

Authors:
Verneri Anttila Bendik S Winsvold Padhraig Gormley Tobias Kurth Francesco Bettella George McMahon Mikko Kallela Rainer Malik Boukje de Vries Gisela Terwindt Sarah E Medland Unda Todt Wendy L McArdle Lydia Quaye Markku Koiranen M Arfan Ikram Terho Lehtimäki Anine H Stam Lannie Ligthart Juho Wedenoja Ian Dunham Benjamin M Neale Priit Palta Eija Hamalainen Markus Schürks Lynda M Rose Julie E Buring Paul M Ridker Stacy Steinberg Hreinn Stefansson Finnbogi Jakobsson Debbie A Lawlor David M Evans Susan M Ring Markus Färkkilä Ville Artto Mari A Kaunisto Tobias Freilinger Jean Schoenen Rune R Frants Nadine Pelzer Claudia M Weller Ronald Zielman Andrew C Heath Pamela A F Madden Grant W Montgomery Nicholas G Martin Guntram Borck Hartmut Göbel Axel Heinze Katja Heinze-Kuhn Frances M K Williams Anna-Liisa Hartikainen Anneli Pouta Joyce van den Ende Andre G Uitterlinden Albert Hofman Najaf Amin Jouke-Jan Hottenga Jacqueline M Vink Kauko Heikkilä Michael Alexander Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Heinz Erich Wichmann Arpo Aromaa Johan G Eriksson Bryan Traynor Daniah Trabzuni Elizabeth Rossin Kasper Lage Suzanne B R Jacobs J Raphael Gibbs Ewan Birney Jaakko Kaprio Brenda W Penninx Dorret I Boomsma Cornelia van Duijn Olli Raitakari Marjo-Riitta Jarvelin John-Anker Zwart Lynn Cherkas David P Strachan Christian Kubisch Michel D Ferrari Arn M J M van den Maagdenberg Martin Dichgans Maija Wessman George Davey Smith Kari Stefansson Mark J Daly Dale R Nyholt Daniel Chasman Aarno Palotie

Nat Genet 2013 Aug 23;45(8):912-917. Epub 2013 Jun 23.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.2676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041123PMC
August 2013

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Am J Med Genet A 2013 Apr 22;161A(4):884-8. Epub 2013 Feb 22.

Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, Debrecen, Hungary.

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http://dx.doi.org/10.1002/ajmg.a.35848DOI Listing
April 2013

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Eur J Med Genet 2012 Dec 30;55(12):727-31. Epub 2012 Aug 30.

Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.010DOI Listing
December 2012

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Eur J Endocrinol 2012 Jul 3;167(1):125-30. Epub 2012 Apr 3.

Department of Pediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1530/EJE-11-0944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381348PMC
July 2012

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Am J Hum Genet 2011 Jun 27;88(6):788-795. Epub 2011 May 27.

INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113253PMC
June 2011

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Hum Genet 2011 Jan 22;129(1):45-50. Epub 2010 Oct 22.

Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1007/s00439-010-0896-2DOI Listing
January 2011

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Nat Genet 2010 Oct 29;42(10):869-73. Epub 2010 Aug 29.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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https://openaccess.leidenuniv.nl/bitstream/handle/1887/16353
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ftp://ftp.sanger.ac.uk/pub/resources/theses/sc14/chapter3.pd
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http://www.nature.com/doifinder/10.1038/ng.652
Publisher Site
http://dx.doi.org/10.1038/ng.652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948563PMC
October 2010

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

Am J Med Genet A 2010 Aug;152A(8):2090-3

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

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http://dx.doi.org/10.1002/ajmg.a.33541DOI Listing
August 2010

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

Eur J Med Genet 2009 Jul-Aug;52(4):180-4. Epub 2009 Mar 28.

Department of Neurology, Etablissement hospitalier spécialisé de Benaknoun, and Department of Biochemistry, Centre Hospitalo-Universitaire Mustapha Bacha, Algiers, Algeria.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212090003
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2009.03.013DOI Listing
November 2009

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

J Clin Endocrinol Metab 2009 Jun 24;94(6):2106-9. Epub 2009 Mar 24.

Institute of Human Genetics, Center for Molecular Medicine Cologne, University of Cologne, Cologne 50931, Germany.

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http://dx.doi.org/10.1210/jc.2008-2361DOI Listing
June 2009

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

Hum Mutat 2008 Jul;29(7):966-74

INSERM U781 and Department of Medical Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/humu.20531DOI Listing
July 2008

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Hum Mutat 2007 Feb;28(2):205-6

INSERM U781 and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9478DOI Listing
February 2007

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

J Clin Endocrinol Metab 2006 Jul 9;91(7):2678-81. Epub 2006 May 9.

Children's Hospital, Johannes Gutenberg University Mainz, Langenbeckstrasse 1, Building 109, D-55101 Mainz, Germany.

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http://dx.doi.org/10.1210/jc.2006-0142DOI Listing
July 2006

Molecular karyotyping in human constitutional cytogenetics.

Eur J Med Genet 2005 Jul-Sep;48(3):214-31

Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.013DOI Listing
November 2005

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

J Clin Endocrinol Metab 2004 Nov;89(11):5347-51

Department of Communication Disorders, Hospitals of the Johannes Gutenberg University of Mainz, Langenbeckstrasse 1, Building 109, D-55101 Mainz, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2004-1013DOI Listing
November 2004

Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

J Clin Endocrinol Metab 2003 Jun;88(6):2916-21

Children's Hospital, Johannes-Gutenberg-University of Mainz, D-55101 Mainz.

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http://dx.doi.org/10.1210/jc.2002-021334DOI Listing
June 2003