Publications by authors named "Barbara Leube"

25Publications

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Mov Disord 2015 Apr 17;30(5):740-3. Epub 2015 Mar 17.

Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University Tuebingen, Germany.

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http://dx.doi.org/10.1002/mds.26198DOI Listing
April 2015

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Pediatr Nephrol 2014 Jan 19;29(1):155-9. Epub 2013 Sep 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Moorenstr. 5, 40225, Dusseldorf, Germany,

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http://dx.doi.org/10.1007/s00467-013-2617-2DOI Listing
January 2014

Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

Am J Med Genet A 2013 May 13;161A(5):958-64. Epub 2013 Mar 13.

Institute of Human Genetics and Anthropology, Medical Faculty, Heinrich-Heine-University of Duesseldorf, Duesseldorf, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35818DOI Listing
May 2013

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

Mov Disord 2012 Dec 31;27(14):1819-21. Epub 2012 Oct 31.

Institute of Human Genetics, Justus Liebig University, Giessen, Germany.

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http://dx.doi.org/10.1002/mds.25219DOI Listing
December 2012

Mutations in CIZ1 cause adult onset primary cervical dystonia.

Ann Neurol 2012 Apr 23;71(4):458-69. Epub 2012 Mar 23.

Department of Neurology, University of Tennessee Health Science Center, Memphis, USA.

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http://dx.doi.org/10.1002/ana.23547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334472PMC
April 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

Genet Test 2008 Mar;12(1):129-33

Institute of Human Genetics, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.

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http://www.liebertpub.com/doi/10.1089/gte.2007.0070
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http://dx.doi.org/10.1089/gte.2007.0070DOI Listing
March 2008

Clinical outcome and genotype in patients with hereditary multiple exostoses.

J Orthop Res 2007 Dec;25(12):1541-51

Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany.

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http://dx.doi.org/10.1002/jor.20479DOI Listing
December 2007

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.

Neurogenetics 2007 Jan 17;8(1):51-5. Epub 2006 Nov 17.

Institut für Humangenetik, Justus-Liebig Universität, Giessen, Germany.

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http://dx.doi.org/10.1007/s10048-006-0069-6DOI Listing
January 2007

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):541

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):537

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):537

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):536

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):533

University of Duesseldorf, Institute of Human Genetics, Germany.

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May 2005

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Am J Med Genet A 2003 Dec;123A(3):296-300

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

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http://dx.doi.org/10.1002/ajmg.a.20339DOI Listing
December 2003

Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.

Clin Dysmorphol 2003 Oct;12(4):261-5

Institute of Human Genetics, University of Duesseldorf, POB 101007, 40001 Duesseldorf, Germany.

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http://dx.doi.org/10.1097/00019605-200310000-00010DOI Listing
October 2003