Laura Bernardini

Laura Bernardini

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Laura Bernardini

Laura Bernardini

Publications by authors named "Laura Bernardini"

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Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.

Stem Cell Res 2019 Jul 5;38:101480. Epub 2019 Jun 5.

Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617992PMC
July 2019

Epilepsy phenotype in patients with Xp22.31 microduplication.

Epilepsy Behav Case Rep 2019 4;11:31-34. Epub 2018 Nov 4.

Department of Human Neurosciences, Sapienza University of Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S22133232183013
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http://dx.doi.org/10.1016/j.ebcr.2018.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310737PMC
November 2018

Alpha-7 Nicotinic Receptors in Nervous System Disorders: From Function to Therapeutic Perspectives.

Cent Nerv Syst Agents Med Chem 2017 ;17(2):100-108

Dipartimento di Biologia e Biotecnologie Charles Darwin, Centro di ricerca in Neurobiologia Daniel Bovet "Sapienza", Università di Roma, P.le A. Moro, 5-00185 Roma, Italy.

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http://dx.doi.org/10.2174/1871524916666160729111446DOI Listing
September 2018

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.

Stem Cell Res 2018 05 21;29:174-178. Epub 2018 Apr 21.

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.008DOI Listing
May 2018

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

Stem Cell Res 2018 04 21;28:145-148. Epub 2018 Feb 21.

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.02.014DOI Listing
April 2018

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).

Stem Cell Res 2018 03 9;27:74-77. Epub 2018 Jan 9.

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy; Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, Milan 20126, Italy; IRCCS Casa Sollievo della Sofferenza, viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

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http://dx.doi.org/10.1016/j.scr.2018.01.012DOI Listing
March 2018

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease.

Stem Cell Res 2018 03 9;27:86-89. Epub 2018 Jan 9.

IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, San Giovanni Rotondo, Foggia 71013, Italy.

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http://dx.doi.org/10.1016/j.scr.2018.01.011DOI Listing
March 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Eur J Paediatr Neurol 2016 Nov 11;20(6):971-976. Epub 2016 Jul 11.

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2016.07.003DOI Listing
November 2016

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Am J Med Genet A 2016 10 11;170(10):2531-9. Epub 2016 Aug 11.

Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.37844
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http://dx.doi.org/10.1002/ajmg.a.37844DOI Listing
October 2016

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.

Genomics Insights 2010 11;3:9-21. Epub 2010 Mar 11.

Department of Biopathology, Tor Vergata University, Rome, Italy. ; Azienda Ospedaliera Universitaria Policlinico Tor Vergata, Rome, Italy. ; Fondazione Livio Patrizi, Rome, Italy.

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http://journals.sagepub.com/doi/10.4137/GEI.S3683
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http://dx.doi.org/10.4137/GEI.S3683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510597PMC
August 2015

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

Eur J Med Genet 2015 Aug 2;58(8):406-8. Epub 2015 Jul 2.

Scientific Directorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150010
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http://dx.doi.org/10.1016/j.ejmg.2015.05.005DOI Listing
August 2015

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.

Ann Hum Genet 2015 May 16;79(3):209-17. Epub 2015 Mar 16.

Child Neurology Division, Department of Pediatrics, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1111/ahg.12106DOI Listing
May 2015

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Neurogenetics 2014 Oct 17;15(4):237-42. Epub 2014 Aug 17.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia, Hospital "S. M. della Misericordia", Via E. dal Pozzo, 06123, Perugia, Italy,

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http://link.springer.com/10.1007/s10048-014-0418-9
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http://dx.doi.org/10.1007/s10048-014-0418-9DOI Listing
October 2014

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.

Clin Dysmorphol 2014 Jan;23(1):32-4

aDepartment of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS bDepartment of Neuropsychiatry, Sapienza University, Rome cMendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, Rome and San Giovanni Rotondo, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000019DOI Listing
January 2014

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Eur J Paediatr Neurol 2013 Nov 24;17(6):589-99. Epub 2013 May 24.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, via dei Giacinti, 2, 56128 Calambrone, Pisa, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798130006
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http://dx.doi.org/10.1016/j.ejpn.2013.04.010DOI Listing
November 2013

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.

Am J Med Genet A 2013 Aug 4;161A(8):2084-7. Epub 2013 Jul 4.

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36028DOI Listing
August 2013

6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

Eur J Paediatr Neurol 2013 May 12;17(3):225-31. Epub 2012 Oct 12.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.09.008DOI Listing
May 2013

The future of prenatal diagnosis: karyotype, microarray or both? Technical and ethical considerations.

Expert Rev Proteomics 2013 Apr;10(2):131-4

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Viale dei Cappuccini, s.n.c.71013 San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1586/epr.13.9DOI Listing
April 2013

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Eur J Med Genet 2013 Mar 25;56(3):144-9. Epub 2012 Dec 25.

Medical Genetics, Cytogenetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.004DOI Listing
March 2013

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

Eur J Hum Genet 2012 Feb 7;20(2). Epub 2011 Sep 7.

CNRS, UMR 6061-IGDR, Equipe 'Génétique des Pathologies Liées au Développement', Rennes, France.

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http://dx.doi.org/10.1038/ejhg.2011.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260917PMC
February 2012

Deletion 2p15-16.1 syndrome: case report and review.

Am J Med Genet A 2011 Oct 9;155A(10):2473-8. Epub 2011 Sep 9.

Sezione di Genetica Medica, Università e Azienda Ospedaliera di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33875DOI Listing
October 2011

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Am J Med Genet A 2011 Sep 3;155A(9):2196-202. Epub 2011 Aug 3.

Medical Genetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34131DOI Listing
September 2011

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

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

Am J Med Genet A 2010 Aug;152A(8):2061-6

Casa Sollievo della Sofferenza Hospital, IRCSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33506DOI Listing
August 2010

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.

Am J Med Genet A 2009 Dec;149A(12):2867-70

IRCCS "Casa Sollievo della Sofferenza" and Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32662DOI Listing
December 2009

16p subtelomeric duplication: a clinically recognizable syndrome.

Eur J Hum Genet 2009 Sep 18;17(9):1135-40. Epub 2009 Mar 18.

Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2009.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986590PMC
September 2009

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

Am J Med Genet A 2009 Jun;149A(6):1200-4

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32847DOI Listing
June 2009

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.

Am J Med Genet A 2009 Mar;149A(3):546-8

IRCCS Casa Sollievo della Sofferenza-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32695DOI Listing
March 2009

2q31.2q32.3 deletion syndrome: report of an adult patient.

Am J Med Genet A 2009 Feb;149A(4):706-12

Medical Genetics Unit, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32688DOI Listing
February 2009

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Clin Dysmorphol 2009 Jan;18(1):9-12

Department of Human Genetics, NYS Institute for Basic Research, in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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January 2009

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

Am J Med Genet A 2008 Jul;146A(13):1718-24

Clinical Genetics Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32365DOI Listing
July 2008

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Epilepsia 2008 Mar 21;49(3):509-15. Epub 2007 Nov 21.

Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, Université Paris V, Paris, France, and INSERM, U663, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01424.xDOI Listing
March 2008

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Am J Med Genet A 2007 Dec;143A(24):2937-43

CSS Hospital, IRCSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32092DOI Listing
December 2007

Duplication 18q21.31-q22.2.

Am J Med Genet A 2007 Feb;143(4):343-8

Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31588DOI Listing
February 2007

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Am J Med Genet A 2006 Jun;140(12):1267-73

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.31262DOI Listing
June 2006

Comorbidity, frailty, and evolution of pressure ulcers in geriatrics.

Med Sci Monit 2005 Jul 29;11(7):CR326-36. Epub 2005 Jun 29.

Istituto di Scienza dell'Alimentazione dell'Universitŕ di Roma La Sapienza, Italy.

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July 2005

Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

Prenat Diagn 2005 Apr;25(4):283-5

IRCCS-CSS San Giovanni Rotondo and CSS-Mendel, 261-00198 Rome, Italy.

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http://dx.doi.org/10.1002/pd.1095DOI Listing
April 2005

Disomy of distal Xq in males: case report and overview.

Am J Med Genet A 2004 Jul;128A(2):165-9

Ospedale Casa Sollievo della Sofferenza e Istituto CSS-Mendel, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30088DOI Listing
July 2004

Effect of nutritional status on clinical outcome in a population of geriatric rehabilitation patients.

Aging Clin Exp Res 2004 Apr;16(2):132-8

Istituto di Scienza dell'Alimentazione, Università La Sapienza, Roma, Italy.

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April 2004

Medulloblastoma as a secondary malignancy after radiotherapy-free treatment for acute lymphoblastic leukemia.

J Pediatr Hematol Oncol 2003 Jul;25(7):562-4

Pediatric Department, University of Rome La Sapienza, Viale Regina Elena 324, 00161 Rome, Italy.

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http://dx.doi.org/10.1097/00043426-200307000-00013DOI Listing
July 2003