Publications by authors named "Juliane Hoyer"

44Publications

Psychiatric Disorders and Distal 21q Deletion-A Case Report.

Int J Environ Res Public Health 2020 04 29;17(9). Epub 2020 Apr 29.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph17093096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246703PMC
April 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy.

Eur J Med Res 2019 Sep 14;24(1):32. Epub 2019 Sep 14.

Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsstraße 21-23, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40001-019-0391-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744699PMC
September 2019

Virulence Factors Produced by Biofilms Have a Moonlighting Function Contributing to Biofilm Integrity.

Mol Cell Proteomics 2019 06 8;18(6):1036-1053. Epub 2019 Mar 8.

From the ‡Institute of Microbiology, Department of Microbial Physiology and Molecular Biology;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/mcp.RA118.001120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553939PMC
June 2019

Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

Geburtshilfe Frauenheilkd 2018 May 4;78(5):481-492. Epub 2018 Jun 4.

Department of Gynecology and Obstetrics, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0603-4350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986564PMC
May 2018

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.

Breast Cancer Res Treat 2018 Aug 3;171(1):85-94. Epub 2018 May 3.

Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-018-4797-8DOI Listing
August 2018

Proteomic response of Streptococcus pneumoniae to iron limitation.

Int J Med Microbiol 2018 Aug 13;308(6):713-721. Epub 2018 Feb 13.

Department Microbial Proteomics, Institute for Microbiology, Ernst-Moritz-Arndt University Greifswald, Felix-Hausdorff-Str. 8, 17489 Greifswald, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijmm.2018.02.001DOI Listing
August 2018

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Epilepsy Behav 2017 04 23;69:104-109. Epub 2017 Feb 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2017.01.022DOI Listing
April 2017

Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer.

Breast 2017 Apr 17;32:186-191. Epub 2017 Feb 17.

Friedrich-Alexander University Erlangen-Nürnberg (FAU), Department of Obstetrics and Gynecology, Erlangen University Hospital, University Breast Center for Franconia, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.breast.2017.02.008DOI Listing
April 2017

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

Am J Med Genet A 2017 Apr 7;173(4):1017-1037. Epub 2017 Feb 7.

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38142DOI Listing
April 2017

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Int J Cancer 2017 Jan 23;140(1):95-102. Epub 2016 Sep 23.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.30428DOI Listing
January 2017

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

Am J Hum Genet 2015 Sep;97(3):445-56

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Nikolaus-Fiebiger-Center for Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564991PMC
September 2015

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013

Rare copy number variants are a common cause of short stature.

PLoS Genet 2013 14;9(3):e1003365. Epub 2013 Mar 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1003365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597495PMC
June 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.

View Article

Download full-text PDF

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

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

Eur J Med Genet 2011 Sep-Oct;54(5):e495-500. Epub 2011 Jun 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.06.002DOI Listing
December 2011

Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

J Neurol Sci 2011 Jan 28;300(1-2):191-3. Epub 2010 Sep 28.

Department of Neurology, Friedrich-Alexander University Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2010.08.044DOI Listing
January 2011

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

J Med Genet 2010 May 30;47(5):321-31. Epub 2009 Nov 30.

Institute of Medical Genetics, Schorenstrasse 16, CH-8603 Zurich-Schwerzenbach, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2009.070391DOI Listing
May 2010

SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

Pediatr Res 2009 May;65(5):564-8

Department of Pediatric Nephrology, Hannover Medical School, D-30623 Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1203/PDR.0b013e3181998a74DOI Listing
May 2009

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

Eur J Med Genet 2008 Nov-Dec;51(6):666-71. Epub 2008 Aug 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.07.009DOI Listing
March 2009

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

Eur J Med Genet 2008 Jul-Aug;51(4):362-7. Epub 2008 Mar 20.

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

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120800046
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2008.03.001DOI Listing
October 2008

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

Am J Med Genet A 2006 Dec;140(24):2749-56

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31547DOI Listing
December 2006