Publications by authors named "Katharina M Roetzer"

9Publications

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Neurogenetics 2014 May 19;15(2):117-27. Epub 2014 Mar 19.

Neurogenetics Section, R-30, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), 250 College Street, Toronto, ON, M5T 1R8, Canada.

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http://dx.doi.org/10.1007/s10048-014-0394-0DOI Listing
May 2014

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

Orthop Surg 2013 Feb;5(1):33-9

First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Vienna, Austria.

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http://doi.wiley.com/10.1111/os.12023
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http://dx.doi.org/10.1111/os.12023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583271PMC
February 2013

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

Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.

Clin Dysmorphol 2011 Oct;20(4):182-6

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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https://insights.ovid.com/crossref?an=00019605-201110000-000
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http://dx.doi.org/10.1097/MCD.0b013e328349bc9bDOI Listing
October 2011

Extra phenotypic features in a girl with Miller syndrome.

Clin Dysmorphol 2011 Apr;20(2):66-72

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e3283416701DOI Listing
April 2011

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.

Am J Med Genet A 2010 Dec;152A(12):3173-8

Institute of Human Genetics, Medical University of Graz, Graz, Austria.

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http://doi.wiley.com/10.1002/ajmg.a.33750
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http://dx.doi.org/10.1002/ajmg.a.33750DOI Listing
December 2010

Altered bone matrix mineralization in a patient with Rett syndrome.

Bone 2010 Sep 18;47(3):701-5. Epub 2010 Jun 18.

Department of Orthopaedic Surgery, Vienna General Hospital, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.bone.2010.06.005DOI Listing
September 2010

Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case report.

J Med Case Rep 2007 Jun 6;1:25. Epub 2007 Jun 6.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1752-1947-1-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1892029PMC
June 2007

Novel PHEX mutation associated with hypophosphatemic rickets.

Nephron Physiol 2007 2;106(1):p8-12. Epub 2007 Apr 2.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1159/000101487DOI Listing
May 2007