Publications by authors named "Florence Fellmann"

50Publications

variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.

HeartRhythm Case Rep 2020 Jan 7;6(1):15-19. Epub 2019 Oct 7.

Department of Cardiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.hrcr.2019.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962717PMC
January 2020

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

PLoS Pathog 2019 12 23;15(12):e1008168. Epub 2019 Dec 23.

Infectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1371/journal.ppat.1008168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944389PMC
December 2019

ESHG PPPC Comments on postmortem use of genetic data for research purposes.

Eur J Hum Genet 2020 02 8;28(2):144-146. Epub 2019 Oct 8.

Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1038/s41431-019-0525-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974591PMC
February 2020

[Multidisciplinary cardiogenetic counselling].

Rev Med Suisse 2017 May;13(564):1094-1099

Service de cardiologie, CHUV, 1011 Lausanne.

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May 2017

Pheochromocytoma Masked by Mutation in the TH Gene.

Clin Chem 2016 07;62(7):924-8

Département des Laboratoires, Laboratoire des Catécholamines et Peptides, University Hospital of Lausanne, Lausanne, Switzerland;

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http://dx.doi.org/10.1373/clinchem.2015.248443DOI Listing
July 2016

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.

Eur J Med Res 2016 Apr 30;21:19. Epub 2016 Apr 30.

Division of Pediatric Nephrology, Department of Pediatrics, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1186/s40001-016-0215-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851796PMC
April 2016

Sudden cardiac death among general population and sport related population in forensic experience.

J Forensic Leg Med 2015 Oct 1;35:62-8. Epub 2015 Aug 1.

University Center of Legal Medicine, Lausanne and Geneva, Chemin de la Vulliette 4, 1000 Lausanne 25, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.jflm.2015.07.004DOI Listing
October 2015

Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.

BMC Cardiovasc Disord 2014 Oct 7;14:140. Epub 2014 Oct 7.

University Center of Legal Medicine, Lausanne and Geneva, Rue du Bugnon 21, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1186/1471-2261-14-140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198689PMC
October 2014

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Eur J Hum Genet 2015 Jun 24;23(6):729-35. Epub 2014 Sep 24.

1] Institute for Health Economics and Health Care Management, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany [2] Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical Center, Ludwig Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795066PMC
June 2015

[Rare vascular diseases].

Rev Med Suisse 2014 Feb;10(416):347-50, 352

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February 2014

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Eur J Hum Genet 2013 Jun;21 Suppl 1:S1-5

Section Community Genetics, Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660957PMC
June 2013

Two new families with hereditary minimal change disease.

BMC Nephrol 2013 Mar 22;14:65. Epub 2013 Mar 22.

Division of Pediatric Nephrology of West Switzerland, Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1186/1471-2369-14-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616856PMC
March 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

[Are genetic tests useful for cardiovascular prevention?].

Rev Med Suisse 2012 Mar;8(331):519-20, 522-4

Unité de prévention communautaire, Institut de médecine sociale et préventive, CHUV, 1011 Lausanne.

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March 2012

Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.

Circ Heart Fail 2012 Jan;5(1):e1-3

Service de Cardiologie, Centre Hospitalier Universitaire Vaudois, Faculté Biologie et Médecine, Université de Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.111.963900DOI Listing
January 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

Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

Ann Noninvasive Electrocardiol 2011 Apr;16(2):213-8

Department of Clinical Research, University of Bern, Switzerland.

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http://dx.doi.org/10.1111/j.1542-474X.2011.00419.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6932128PMC
April 2011

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

J Cyst Fibros 2010 Dec 28;9(6):447-9. Epub 2010 Sep 28.

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

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http://dx.doi.org/10.1016/j.jcf.2010.08.014DOI Listing
December 2010

[The example of cystic fibrosis to highlight the complexity of genetic screening].

Rev Med Suisse 2010 Jul;6(256):1395-9

Unité de prévention communautaire, IUMSP, CHUV, Lausanne.

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July 2010

[Recent insights into polycystic kidney disease].

Rev Med Suisse 2010 Mar;6(238):454-9

Service de néphrologie, Département de médecine, CHUV, Lausanne.

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March 2010

Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

Swiss Med Wkly 2009 Dec;139(49-50):712-8

University of Lausanne, University Center of Legal Medicine, Geneva and Lausanne, Switzerland, Lausanne, Switzerland.

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http://dx.doi.org/smw-12837DOI Listing
December 2009

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?

Am J Med Genet A 2009 Dec;149A(12):2661-5

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

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http://dx.doi.org/10.1002/ajmg.a.33132DOI Listing
December 2009

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

Eur J Med Genet 2009 Jul-Aug;52(4):195-200. Epub 2008 Dec 13.

Laboratoire de Biochimie, INSERM, U587, Centre de Référence des Surdités Génétiques, AP-HP, Hôpital Armand-Trousseau, 26 Avenue du Docteur-Arnold-Netter, 75012 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.11.006DOI Listing
November 2009

[Molecular autopsy of sudden cardiac death: from postmortem to clinical approach].

Rev Med Suisse 2008 Jul;4(164):1590-3

Unité de médecine forensique, Centre universitaire romand de médecine légale, Lausanne.

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July 2008

Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect.

Fetal Diagn Ther 2008 26;23(2):117-20. Epub 2007 Nov 26.

Centre de Diagnostic Prénatal, Centre Hospitalier Universitaire, Lyon, France.

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http://dx.doi.org/10.1159/000111590DOI Listing
April 2008

Quantitative PCR technique for the identification of microrearrangements of the AZFc region.

J Assist Reprod Genet 2007 Jun 5;24(6):241-8. Epub 2007 Apr 5.

EA MENRT 3185 Génétique et Reproduction - IFR133 IBCT, Faculté de Médecine et de Pharmacie, Besançon, France.

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http://dx.doi.org/10.1007/s10815-006-9055-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454972PMC
June 2007

Two fast methods for detection of Y-microdeletions.

Fertil Steril 2005 Sep;84(3):740-2

Laboratoire de Biologie de la Reproduction, GIMAP, Saint Etienne, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.03.050DOI Listing
September 2005