Alessandra Ferrarini

Alessandra Ferrarini

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Alessandra Ferrarini

Alessandra Ferrarini

Publications by authors named "Alessandra Ferrarini"

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33Publications

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy.

Clin Dysmorphol 2019 May 23. Epub 2019 May 23.

Service of Medical Genetics, Italian Hospital of Lugano, University of Lugano, Lugano, Switzerland (CH).

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http://dx.doi.org/10.1097/MCD.0000000000000283DOI Listing
May 2019

Effects of multiwalled carbon nanotubes and carbofuran on metabolism in Astyanax ribeirae, a native species.

Fish Physiol Biochem 2019 Feb 1;45(1):417-426. Epub 2018 Oct 1.

Laboratory of Solid State Chemistry, Institute of Chemistry, University of Campinas, Campinas, São Paulo, 13083-970, Brazil.

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http://dx.doi.org/10.1007/s10695-018-0573-2DOI Listing
February 2019

Sporadic acute benign calf myositis: Systematic literature review.

Neuromuscul Disord 2018 05 12;28(5):443-449. Epub 2018 Feb 12.

Department of Pediatrics, University Children's Hospital of Bern, Inselspital, and University of Bern, Bern, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.02.005DOI Listing
May 2018

Acute hemorrhagic edema of young children: a prospective case series.

Eur J Pediatr 2016 Apr 25;175(4):557-61. Epub 2015 Nov 25.

University Children's Hospital Berne, University of Berne, Berne, Switzerland.

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http://dx.doi.org/10.1007/s00431-015-2671-9DOI Listing
April 2016

Familial Henoch-Schönlein Syndrome.

J Clin Rheumatol 2016 Mar;22(2):80-1

From the *Pediatric Department, Southern Switzerland, Bellinzona, Switzerland; and † Pediatric Emergency Department, Foundation IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1097/RHU.0000000000000360DOI Listing
March 2016

Recurrent Finkelstein-Seidlmayer Disease in Four First-degree Relatives.

Acta Derm Venereol 2015 May;95(5):622-3

Pediatric Department of Southern Switzerland, Regional Hospital of Bellinzona, 6500 Bellinzona, Switzerland.

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http://dx.doi.org/10.2340/00015555-2017DOI Listing
May 2015

High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders.

Eur J Paediatr Neurol 2015 May 13;19(3):386-7. Epub 2015 Feb 13.

Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.01.009DOI Listing
May 2015

Taste acceptability of pulverized brand-name and generic drugs containing amlodipine or candesartan.

Int J Pharm 2014 Jul 16;468(1-2):196-8. Epub 2014 Apr 16.

Pediatric Department of Southern Switzerland, Bellinzona, Switzerland; Pediatric Nephrology, University Children's Hospital Bern and University of Bern, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ijpharm.2014.04.035DOI Listing
July 2014

Influenzavirus B-associated acute benign myalgia cruris: an outbreak report and review of the literature.

Neuromuscul Disord 2014 Apr 4;24(4):342-6. Epub 2014 Jan 4.

Integrated Department of Pediatrics, Ente Ospedaliero Cantonale Ticinese, and University of Berne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.12.009DOI Listing
April 2014

Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist.

Dev Med Child Neurol 2014 Mar 23;56(3):290. Epub 2013 Nov 23.

Integrated Department of Pediatrics, Ente Ospedaliero Cantonale Ticinese, Bellinzona, Switzerland.

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http://dx.doi.org/10.1111/dmcn.12341DOI Listing
March 2014

Ureteral or vesical involvement in Henoch-Schönlein syndrome: a systematic review of the literature.

Pediatr Nephrol 2014 Feb 24;29(2):235-9. Epub 2013 Sep 24.

Department of Pediatrics, Mendrisio and Bellinzona Hospitals, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1007/s00467-013-2621-6DOI Listing
February 2014

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Am J Med Genet A 2014 Feb 13;164A(2):346-52. Epub 2013 Dec 13.

Division of Pediatrics, San Giovanni Hospital, Bellinzona, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36140DOI Listing
February 2014

What can we do to make antihypertensive medications taste better for children?

Int J Pharm 2013 Nov 30;457(1):333-6. Epub 2013 Jul 30.

Integrated Department of Paediatrics, Ente Ospedaliero Cantonale Ticinese, and University of Berne, Switzerland.

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http://dx.doi.org/10.1016/j.ijpharm.2013.07.054DOI Listing
November 2013

Prevention of vitamin D insufficiency in Switzerland: a never-ending story.

Int J Pharm 2013 Nov;457(1):353-6

Department of Pediatrics, Bellinzona and Mendrisio, and University of Bern, Bern, Switzerland; Division of Pediatric Nephrology, University Children's Hospital Bern and University of Bern, Bern, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ijpharm.2013.08.068DOI Listing
November 2013

Primary hypertension in childhood.

Curr Hypertens Rep 2013 Oct;15(5):444-52

Pediatric Nephrology, University Children's Hospital, Inselspital and University of Bern, 3010, Bern, Switzerland.

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http://dx.doi.org/10.1007/s11906-013-0378-8DOI Listing
October 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

[Array CGH: why and to whom].

Rev Med Suisse 2010 Feb;6(237):390-2, 394-6

Service de génétique médicale et Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne.

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February 2010

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

Index of suspicion.

Pediatr Rev 2009 Dec;30(12):479-85

Department of Pediatrics, Ospedale Bellinzona and Mendrisio, University of Lausanne, Switzerland.

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http://dx.doi.org/10.1542/pir.30-12-479DOI Listing
December 2009

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.

Dev Med Child Neurol 2008 Dec;50(12):953-5

Department of Paediatrics, Ospedale San Giovanni, Bellinzona, Switzerland.

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http://dx.doi.org/10.1111/j.1469-8749.2008.03048.xDOI Listing
December 2008

False positive dipstick for urinary blood in childhood.

J Nephrol 2006 Sep-Oct;19(5):605-6

Division of Pediatrics, Ospedale San Giovanni, Bellinzona; Division of Pediatrics, Ospedale della Beata Vergine, Mendrisio-Switzerland.

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June 2008

Severe systemic adverse reaction to proton pump inhibitors in an infant.

Pediatr Pulmonol 2007 Jun;42(6):563-4

Division of Pediatric Surgery, Ospedale San Giovanni, Bellinzona, Switzerland.

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http://dx.doi.org/10.1002/ppul.20616DOI Listing
June 2007