Alessandra Renieri

Alessandra Renieri

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Alessandra Renieri

Alessandra Renieri

Publications by authors named "Alessandra Renieri"

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Altered expression of RXFP1 receptor contributes to the inefficacy of relaxin-based anti-fibrotic treatments in systemic sclerosis.

Clin Exp Rheumatol 2019 Jul-Aug;37 Suppl 119(4):69-75. Epub 2019 Jul 19.

Scleroderma Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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October 2019

Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier.

Nat Commun 2019 Oct 21;10(1):4791. Epub 2019 Oct 21.

GOFARR Laboratory for Organ Regenerative Research and Cell Therapeutics in Urology, Saban Research Institute, Division of Urology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/s41467-019-12177-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803622PMC
October 2019

A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier.

Nat Commun 2019 08 13;10(1):3656. Epub 2019 Aug 13.

GOFARR Laboratory for Organ Regenerative Research and Cell Therapeutics in Urology, Saban Research Institute, Division of Urology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/s41467-019-11577-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692336PMC
August 2019

Aging-associated genes and microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.

FASEB J 2019 Jun 12;33(6):7155-7167. Epub 2019 Mar 12.

Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1096/fj.201801577RRDOI Listing
June 2019

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

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Eur J Med Genet 2019 Feb 5:103627. Epub 2019 Feb 5.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.017DOI Listing
February 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Germline mutations in lung cancer and personalized medicine.

Fam Cancer 2018 07;17(3):429-430

Medical Genetics, University of Siena, Viale Bracci, 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10689-017-0044-4DOI Listing
July 2018

Functional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation.

Front Integr Neurosci 2018 12;12:22. Epub 2018 Jun 12.

Department of Medicine, Surgery and Neuroscience, Brain Investigation & Neuromodulation Laboratory, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3389/fnint.2018.00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005822PMC
June 2018

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Kidney Int 2018 05 16;93(5):1045-1051. Epub 2018 Mar 16.

Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1016/j.kint.2017.12.018DOI Listing
May 2018

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Ital J Pediatr 2017 Nov 3;43(1):100. Epub 2017 Nov 3.

Operative Unit of Pediatrics and Neonatal Intensive Therapy, Mother and Child Department, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/s13052-017-0418-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670717PMC
November 2017

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Clin Dysmorphol 2017 Jan;26(1):18-25

aMedical Genetics, Department of Medical Biotechnologies bBioengineering Unit, Department of Medical Biotechnologies, University of Siena cMedical Genetics Unit, Department of Medical Biotechnologies dDepartment of Neurology NINT (Neuroimmagini e Neurointerventistica), Azienda Ospedaliera Universitaria Senese eDepartment of Obstetrics and Gynecology, Azienda, Siena, Italy.

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http://dx.doi.org/10.1097/MCD.0000000000000152DOI Listing
January 2017

Exploiting the potential of next-generation sequencing in genomic medicine.

Expert Rev Mol Diagn 2016 09;16(9):1037-47

a Medical Genetics , University of Siena , Siena , Italy.

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http://dx.doi.org/10.1080/14737159.2016.1224181DOI Listing
September 2016

Nicolaides-Baraitser syndrome: defining a phenotype.

J Neurol 2016 Aug 10;263(8):1659-60. Epub 2016 Jun 10.

Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-016-8194-0DOI Listing
August 2016

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

J Neurol Sci 2015 Dec 9;359(1-2):409-17. Epub 2015 Oct 9.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.09.377DOI Listing
December 2015

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

J Med Genet 2015 Nov 4;52(11):738-48. Epub 2015 Sep 4.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103292DOI Listing
November 2015

Dropped-head in recessive oculopharyngeal muscular dystrophy.

Neuromuscul Disord 2015 Nov 7;25(11):869-72. Epub 2015 Sep 7.

Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2015.08.011DOI Listing
November 2015

Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder.

Free Radic Biol Med 2015 Sep 22;86:156-65. Epub 2015 May 22.

Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy; Department of Food and Nutrition, Kyung Hee University, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2015.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572621PMC
September 2015

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015

Antiepileptic drugs in Rett Syndrome.

Eur J Paediatr Neurol 2015 Jul 5;19(4):446-52. Epub 2015 Mar 5.

University of Genoa, DINOGMI, Italy; Department of Child Neuropsychiatry, Epilepsy Centre, Giannina Gaslini Institute, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.02.007DOI Listing
July 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 2015

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.

J Androl 2012 Nov-Dec;33(6):1155-9. Epub 2012 Apr 19.

Unit of Internal Medicine and Endocrinology, Fondazione Salvatore Maugeri IRCCS, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.2164/jandrol.111.016204DOI Listing
October 2014

The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK.

Interact Cardiovasc Thorac Surg 2013 Aug 14;17(2):253-7. Epub 2013 May 14.

Department of Thoracic Surgery, Golden Jubilee National Hospital, Glasgow, UK.

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http://dx.doi.org/10.1093/icvts/ivt217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3715203PMC
August 2013

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Orphanet J Rare Dis 2013 Aug 30;8:129. Epub 2013 Aug 30.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766640PMC
August 2013

Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments.

Acta Ophthalmol 2013 Jun 23;91(4):335-42. Epub 2012 Jan 23.

Unit NINT Neuroimaging and Neurointervention, Department of Neurological and Sensorineural Sciences, Azienda Ospedaliera Universitaria Senese, Policlinico Santa Maria alle Scotte, Siena, Italy.

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http://doi.wiley.com/10.1111/j.1755-3768.2011.02296.x
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http://dx.doi.org/10.1111/j.1755-3768.2011.02296.xDOI Listing
June 2013

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Clin J Am Soc Nephrol 2013 May 31;8(5):749-55. Epub 2013 Jan 31.

Nephrology and Dialysis Unit, Department of Nephrology and Urology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.2215/CJN.07510712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641614PMC
May 2013

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Am J Med Genet A 2012 Jul 7;158A(7):1793-7. Epub 2012 Jun 7.

Child Neurology Unit, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35416DOI Listing
July 2012

Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.

Mol Biol Cell 2012 Apr 22;23(8):1435-45. Epub 2012 Feb 22.

Department of Experimental Medicine, Biotechnology and Molecular Biology Section, Second University of Naples, 80138 Naples, Italy.

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http://dx.doi.org/10.1091/mbc.E11-09-0784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327309PMC
April 2012

iPS cells to model CDKL5-related disorders.

Eur J Hum Genet 2011 Dec 13;19(12):1246-55. Epub 2011 Jul 13.

Medical Genetics, Department of Biotechnology, University of Siena, Policlinico S. Maria alle Scotte, viale Bracci 2, Siena, Italy.

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http://www.nature.com/articles/ejhg2011131
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http://dx.doi.org/10.1038/ejhg.2011.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218106PMC
December 2011

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 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

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Pediatr Nephrol 2011 May 14;26(5):717-24. Epub 2010 Dec 14.

Department Molecular Biology, Medical Genetics, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00467-010-1693-9DOI Listing
May 2011

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

J Hum Genet 2011 Mar 16;56(3):183-7. Epub 2010 Dec 16.

Department of Medical Genetics, Faculty of Medicine, University of Pécs, Pecs, Hungary.

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http://dx.doi.org/10.1038/jhg.2010.156DOI Listing
March 2011

Epilepsy in Rett syndrome: clinical and genetic features.

Epilepsy Behav 2010 Nov 21;19(3):296-300. Epub 2010 Aug 21.

Department of Child Neuropsychiatry, Epilepsy Centre, G. Gaslini Institute, University of Genoa, Genoa, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050100047
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http://dx.doi.org/10.1016/j.yebeh.2010.06.051DOI Listing
November 2010