Stefania Gimelli

Stefania Gimelli

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Stefania Gimelli

Stefania Gimelli

Publications by authors named "Stefania Gimelli"

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Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.

Alzheimer Dis Assoc Disord 2017 Jan-Mar;31(1):82-85

Departments of *Medical Direction §Mental Health and Psychiatry ∥Medical Genetic and Laboratories University Hospitals of Geneva ¶Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva †Affidea CDR-Radiological diagnostic center of Carouge, Geneva, Switzerland ‡Department of Surgical Sciences Radiology, Uppsala University Uppsala, Sweden.

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http://dx.doi.org/10.1097/WAD.0000000000000185DOI Listing
February 2019

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

Alzheimer Dis Assoc Disord 2016 Jul-Sep;30(3):272-5

Departments of *Mental Health and Psychiatry, Division of General Psychiatry †Imaging and Medical Informatics, University Hospitals of Geneva, Faculty of Medicine of the University of Geneva ‡Department of Medical Genetic and Laboratories, University Hospitals of Geneva, Geneva, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035148PMC
http://dx.doi.org/10.1097/WAD.0000000000000130DOI Listing
March 2018

Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Mol Syndromol 2014 Dec 29;5(6):287-92. Epub 2014 Nov 29.

Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon ; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1159/000369421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281575PMC
December 2014

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Am J Med Genet A 2014 May 29;164A(5):1254-61. Epub 2014 Jan 29.

Department of Pediatrics, University of Jordan, Amman, Jordan.

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http://dx.doi.org/10.1002/ajmg.a.36412DOI Listing
May 2014

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

BMC Med Genet 2014 May 30;15:63. Epub 2014 May 30.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051386PMC
May 2014

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Am J Med Genet A 2014 Mar 20;164A(3):801-5. Epub 2013 Dec 20.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36357DOI Listing
March 2014

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Mol Cytogenet 2013 Nov 26;6(1):52. Epub 2013 Nov 26.

Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1186/1755-8166-6-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906914PMC
November 2013

Genomic analysis of cattle rob(1;29).

Chromosome Res 2012 Oct 9;20(7):815-23. Epub 2012 Oct 9.

Department of Agricultural and Environmental Sciences, Milan University, Via Celoria 2, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10577-012-9315-yDOI Listing
October 2012

Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.

J Appl Toxicol 2012 Mar 6;32(3):233-43. Epub 2012 Jan 6.

Division of Oncology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/jat.1793DOI Listing
March 2012

Familial Poland anomaly revisited.

Am J Med Genet A 2012 Jan 22;158A(1):140-9. Epub 2011 Nov 22.

Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34370DOI 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

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.21378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056145PMC
December 2010

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Hum Mol Genet 2010 May 23;19(10):1967-73. Epub 2010 Feb 23.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq075DOI Listing
May 2010

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Brain Dev 2010 Mar 11;32(3):248-52. Epub 2009 Feb 11.

Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.braindev.2009.01.003DOI Listing
March 2010

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Eur J Med Genet 2009 Jan-Feb;52(1):49-52. Epub 2008 Oct 21.

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambery Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.10.001DOI Listing
April 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Characterization of a recurrent 15q24 microdeletion syndrome.

Hum Mol Genet 2007 Mar 14;16(5):567-72. Epub 2007 Mar 14.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA.

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http://dx.doi.org/10.1093/hmg/ddm016DOI Listing
March 2007

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Eur J Hum Genet 2007 Jan 25;15(1):76-80. Epub 2006 Oct 25.

Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201719DOI Listing
January 2007

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

Am J Med Genet A 2006 Jan;140(1):40-5

Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31044DOI Listing
January 2006

Narrowing the deleted region associated with the 15q21 syndrome.

Eur J Med Genet 2005 Jul-Sep;48(3):346-52

Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini, 14-27100 Pavia, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212050009
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http://dx.doi.org/10.1016/j.ejmg.2005.04.012DOI Listing
November 2005