Fortunato Lonardo

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Authors:

Maria Giovanna Tedesco Fortunato Lonardo Caterina Ceccarini Carla Cesarano Maria Cristina Digilio Monia Magliozzi Daniela Rogaia Amedea Mencarelli Chiara Leoni Carmelo Piscopo Valentina Imperatore Maria Teresa Falco Paolo Fontana Anna Maria Nardone Antonio Novelli Stefania Troiani Marco Seri Paolo Prontera

Am J Med Genet A 2021 Jan 14. Epub 2021 Jan 14.

Medical Genetics Unit, Santa Maria della Misericordia Hospital and University of Perugia, Perugia, Italy.

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January 2021

Genotype-phenotype correlations in recessive titinopathies.

Genet Med 2020 Dec 11;22(12):2029-2040. Epub 2020 Aug 11.

Folkhälsan Research Center, Helsinki, Finland.

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December 2020

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Clin Genet 2019 09 17;96(3):246-253. Epub 2019 Jun 17.

Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS, San Giovanni Rotondo (FG), Italy.

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September 2019

Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.

Authors:

Anna Tortora Domenico La Sala Fortunato Lonardo Mario Vitale

BMJ Case Rep 2019 May 10;12(5). Epub 2019 May 10.

Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.

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May 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:

Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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March 2019

Small 4p16.3 deletions: Three additional patients and review of the literature.

Authors:

Laura Bernardini Francesca C Radio Fabio Acquaviva Cristina Gorgone Diana Postorivo Barbara Torres Viola Alesi Monia Magliozzi Fortunato Lonardo Matteo Della Monica Anna M Nardone Claudia Cesario Teresa Mattina Gioacchino Scarano Bruno Dallapiccola Maria C Digilio Antonio Novelli

Am J Med Genet A 2018 11 23;176(11):2501-2508. Epub 2018 Sep 23.

Medical Genetics Unit and Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

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November 2018

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:

Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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April 2019

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

Authors:

Maria Chiara de Stefano Giovanna Floridia Federica Censi Fabrizio Tosto Marco Salvatore Alessandro Civolani Barbara Crescenzi Daniela Giardino Elisabetta Lenzini Ermanna Lisi Fortunato Lonardo Marco Mancini Antonio Novelli Giuseppe Piombo Sabine Stioui Domenica Taruscio

Ann Ist Super Sanita 2018 Apr-Jun;54(2):109-116

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

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November 2018

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.

Mol Cancer Res 2018 09 21;16(9):1385-1395. Epub 2018 May 21.

Department of Sciences and Technologies, University of Sannio, Benevento, Italy.

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September 2018

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Authors:

Fabio Acquaviva Maria Elena Sana Matteo Della Monica Michele Pinelli Diana Postorivo Paolo Fontana Maria Teresa Falco Anna Maria Nardone Fortunato Lonardo Maria Iascone Gioacchino Scarano

Am J Med Genet A 2017 Jan 28;173(1):231-238. Epub 2016 Sep 28.

U.O. di Genetica Medica, A.O.R.N. "G. Rummo", Benevento, Italy.

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January 2017

The promise of non-invasive prenatal testing needs to be monitored scientifically.

Authors:

Fortunato Lonardo Gioacchino Scarano Scarano Gioacchino

BMJ 2015 May 14;350:h2518. Epub 2015 May 14.

Medical Cytogenetics and Molecular Genetics Unit, AORN "Gaetano Rummo," 82100 Benevento, Italy.

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May 2015

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Authors:

Fortunato Lonardo Paola Di Natale Susanna Lualdi Fabio Acquaviva Cristina Cuoco Francesca Scarano Marianna Maioli Luigi Michele Pavone Grazia Di Gregorio Mirella Filocamo Gioacchino Scarano

Am J Med Genet A 2014 Oct 8;164A(10):2627-32. Epub 2014 Jul 8.

U.O.C. di Genetica Medica, A.O.R.N. "G. Rummo", Benevento, Italy.

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October 2014

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

Authors:

Matteo Della Monica Domenico Galzerano Sara Di Michele Fabio Acquaviva Giovanni Gregorio Fortunato Lonardo Francesca Sguazzo Francesca Scarano Diana Lama Gioacchino Scarano

Am J Med Genet A 2013 Nov 3;161A(11):2920-9. Epub 2013 Oct 3.

Unità Operativa di Genetica Medica, Ospedale Gaetano Rummo, Benevento, Italy.

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November 2013

Baseline inhibin B levels for diagnosis of central precocious puberty in girls.

Authors:

Gianpaolo De Filippo Domenico Rendina Alfredo Nazzaro Fortunato Lonardo Claire Bouvattier Pasquale Strazzullo

Horm Res Paediatr 2013 18;80(3):207-12. Epub 2013 Sep 18.

Servizio di Endocrinologia Pediatrica, Federico II University, Naples, Italy.

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April 2014

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

Authors:

Matteo Della Monica Roberto Mauri Francesca Scarano Fortunato Lonardo Gioacchino Scarano

Am J Med Genet A 2013 Apr 26;161A(4):809-16. Epub 2013 Feb 26.

Medical Genetics Division, General Hospital Gaetano Rummo, Benevento, Italy.

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April 2013

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.

Authors:

Fortunato Lonardo Lucia Perone Marianna Maioli Maria Ciavarella Roberto Ciccone Matteo Della Monica Cinzia Lombardi Luisa Forino Giuseppina Cantalupo Lucia Masella Francesca Scarano

Am J Med Genet A 2011 Apr 17;155A(4):769-77. Epub 2011 Mar 17.

A.O.R.N., G. Rummo, U.O.C. di Genetica Medica, Benevento, Italy.

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April 2011

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

Authors:

Maria Piane Matteo Della Monica Gianluca Piatelli Patrizia Lulli Fortunato Lonardo Luciana Chessa Gioacchino Scarano

Am J Med Genet A 2009 Nov;149A(11):2452-6

II School of Medicine, Sapienza University, Roma, Italy.

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November 2009

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation.

Authors:

Fortunato Lonardo Giuseppina Cantalupo Maria Ciavarella Matteo Della Monica Cinzia Lombardi Marianna Maioli Lucia Masella Alfredo Nazzaro Gioacchino Scarano

Prenat Diagn 2009 Oct;29(10):998-1001

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October 2009

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Authors:

Matteo Della Monica Fortunato Lonardo Francesca Faravelli Mauro Pierluigi Daniela Varela Luquetti Manuela De Gregori Orsetta Zuffardi Gioacchino Scarano

Am J Med Genet A 2007 Nov;143A(22):2733-7

Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.

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November 2007

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Authors:

Fortunato Lonardo Giancarlo Parenti Daniela Varela Luquetti Ida Annunziata Matteo Della Monica Lucia Perone Manuela De Gregori Orsetta Zuffardi Nicola Brunetti-Pierri Generoso Andria Gioacchino Scarano

Eur J Med Genet 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

U.O.C. di Genetica Medica, A.O.R.N. Gaetano Rummo, S.S. di Citogenetica Medica e Genetica Molecolare, Via dell'Angelo, 1, I-82100 Benevento, Italy.

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September 2007

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