Juliane Hoyer

Juliane Hoyer

UNVERIFIED PROFILE

Are you Juliane Hoyer?   Register this Author

Register author
Juliane Hoyer

Juliane Hoyer

Publications by authors named "Juliane Hoyer"

Are you Juliane Hoyer?   Register this Author

41Publications

1597Reads

43Profile Views

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

Genet Med 2019 Nov 14. 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
November 2019

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

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

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

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

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

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

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

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

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

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

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

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