Publications by authors named "Elisabetta Lapi"

37Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.

Int J Endocrinol 2016 16;2016:3032759. Epub 2016 Jun 16.

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2016/3032759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927985PMC
July 2016

Bone mineral status and metabolism in patients with Williams-Beuren syndrome.

Hormones (Athens) 2016 Jul;15(3):404-412

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.

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http://dx.doi.org/10.14310/horm.2002.1683DOI Listing
July 2016

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

Fertil Steril 2016 06 4;105(6):1547-53. Epub 2016 Mar 4.

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1016/j.fertnstert.2016.02.019DOI Listing
June 2016

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.

BMC Endocr Disord 2015 Oct 19;15:58. Epub 2015 Oct 19.

Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy.

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http://dx.doi.org/10.1186/s12902-015-0037-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617709PMC
October 2015

Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Immunol Res 2016 Apr;64(2):345-59

Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli, Università Cattolica Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1007/s12026-015-8707-4DOI Listing
April 2016

Giant multiple bladder diverticula in Williams-Beuren syndrome.

Kidney Int 2015 Aug;88(2):416

Paediatric Endocrinology Unit, Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1038/ki.2014.312DOI Listing
August 2015

Bone status in genetic syndromes: a review.

Hormones (Athens) 2015 Jan-Mar;14(1):19-31

Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/BF03401378DOI Listing
January 2016

Determinants of vitamin d levels in children and adolescents with down syndrome.

Int J Endocrinol 2015 20;2015:896758. Epub 2015 Jan 20.

Health Sciences Department, Anna Meyer Children's University Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2015/896758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320854PMC
February 2015

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

BMC Med Genet 2014 Jan 30;15:16. Epub 2014 Jan 30.

Health's Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916307PMC
January 2014

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

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

Eur J Endocrinol 2010 Aug 1;163(2):329-37. Epub 2010 Jun 1.

Department of Paediatrics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1530/EJE-10-0167DOI Listing
August 2010

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

J Neurol Sci 2010 Jul 5;294(1-2):124-6. Epub 2010 May 5.

Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.03.030DOI Listing
July 2010

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Clin Endocrinol (Oxf) 2010 Jun 26;72(6):839-44. Epub 2009 Oct 26.

Paediatric Endocrinology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03736.xDOI Listing
June 2010

Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature.

J Cardiovasc Med (Hagerstown) 2008 Nov;9(11):1127-9

Paediatric Cardiology, Italy bMedical Genetics Unit, A.Meyer Paediatric Hospital, Firenze, Italy.

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http://dx.doi.org/10.2459/JCM.0b013e3283100eb1DOI Listing
November 2008

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.

Am J Med Genet A 2008 Jun;146A(12):1598-604

Pediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32348DOI Listing
June 2008

Precocious puberty in a girl with floating-harbor syndrome.

J Pediatr Endocrinol Metab 2007 Dec;20(12):1333-7

Paediatric Endocrinology Unit, University of Florence, Italy.

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http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfe
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http://dx.doi.org/10.1515/jpem.2007.20.12.1333DOI Listing
December 2007

Thyroid function and morphology in patients affected by Williams syndrome.

Clin Endocrinol (Oxf) 2005 Oct;63(4):456-60

Paediatric Endocrinology Unit, Univeristy of Florence, A. Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1111/j.1365-2265.2005.02365.xDOI Listing
October 2005

Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome.

Clin Dysmorphol 2003 Oct;12(4):267-8

Paediatric Endocrinology Unit, Department of Paediatrics, University of Florence, A. Meyer Children's Hospital, Florence, Italy.

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http://pdfs.journals.lww.com/clindysmorphol/2003/10000/Thyro
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http://dx.doi.org/10.1097/00019605-200310000-00011DOI Listing
October 2003