Publications by authors named "Armand Bottani"

48Publications

[Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?]

Rev Med Suisse 2017 Feb;13(550):414-420

Service de chirurgie pédiatrique, HUG, 1211 Genève 14.

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February 2017

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Am J Med Genet A 2017 Sep 20;173(9):2456-2460. Epub 2017 Jun 20.

Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.38317
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http://dx.doi.org/10.1002/ajmg.a.38317DOI Listing
September 2017

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Mol Syndromol 2015 Jul 19;6(2):91-5. Epub 2015 May 19.

Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1159/000430429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521075PMC
July 2015

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Genome Res 2014 Feb 3;24(2):349-55. Epub 2014 Jan 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland;

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http://dx.doi.org/10.1101/gr.163832.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425PMC
February 2014

Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.

Childs Nerv Syst 2013 Oct 5;29(10):1927-31. Epub 2013 Apr 5.

Department of Neurosurgery, Faculty of Medicine, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4 (ex-rue Micheli-du-Crest 24), 1211, Geneva 14, Switzerland,

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http://dx.doi.org/10.1007/s00381-013-2090-zDOI Listing
October 2013

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/humu.22216DOI Listing
January 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

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

Hum Mutat 2009 Sep;30(9):1355-64

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.21058DOI Listing
September 2009

Alexander disease: early presence of cerebral MRI criteria.

Eur J Paediatr Neurol 2009 Nov 6;13(6):556-8. Epub 2009 Jan 6.

Child Neurology, Department of Paediatrics, Children's Hospital, Geneva University Hospital, Switzerland.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800217
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http://dx.doi.org/10.1016/j.ejpn.2008.11.008DOI Listing
November 2009

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.

Am J Med Genet A 2007 Aug;143A(16):1894-9

Service of Medical Genetics, Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31789DOI Listing
August 2007

Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.

J Pediatr Orthop 2007 Apr-May;27(3):266-9

Department of Paediatric Orthopaedics, Children's Hospital, Geneva, Switzerland.

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http://dx.doi.org/10.1097/BPO.0b013e3180340d6cDOI Listing
June 2007

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

Am J Med Genet A 2007 Apr;143A(8):888-90

Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31651DOI Listing
April 2007

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Brain Dev 2007 Jan 17;29(1):47-50. Epub 2006 Jul 17.

Service of Medical Genetics and Neuropediatric Unit, Geneva University Hospitals, 1 rue Michel-Servet 1211, Geneva Switzerland.

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http://dx.doi.org/10.1016/j.braindev.2006.06.001DOI Listing
January 2007

Prenatal diagnostic indicators of paternal uniparental disomy 14.

Prenat Diagn 2006 Aug;26(8):662-6

Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/pd.1453DOI Listing
August 2006

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

Am J Med Genet A 2004 Jun;127A(3):244-8

School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, England.

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http://doi.wiley.com/10.1002/ajmg.a.30010
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http://dx.doi.org/10.1002/ajmg.a.30010DOI Listing
June 2004

[How should a muscular disease be studied?].

Rev Med Suisse Romande 2003 Jan;123(1):45-9

Hôpital Cantonal Universitaire 1211 Genève.

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January 2003