Daniela Melis

Daniela Melis

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Daniela Melis

Daniela Melis

Publications by authors named "Daniela Melis"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

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

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http://dx.doi.org/10.1002/humu.23929DOI Listing
January 2020

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

J Inherit Metab Dis 2018 11 12;41(6):985-995. Epub 2018 Feb 12.

Department of Translational Medical Science, Section of Pediatrics, Federico II University, Via Sergio Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s10545-018-0149-4DOI Listing
November 2018

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.

Am J Med Genet A 2018 05;176(5):1253-1257

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38677DOI Listing
May 2018

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

BMC Pediatr 2018 02 28;18(1):91. Epub 2018 Feb 28.

Department of Advanced Biomedical Sciences, "Federico II" University, via Sergio Pansini 5, 80100, Naples, Italy.

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http://dx.doi.org/10.1186/s12887-018-1067-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832195PMC
February 2018

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Am J Med Genet A 2017 Jul 30;173(7):1896-1902. Epub 2017 Apr 30.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38124DOI Listing
July 2017

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Am J Med Genet A 2016 08 3;170(8):2196-9. Epub 2016 Jun 3.

Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37770DOI Listing
August 2016

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.

Mol Cytogenet 2015 18;8:96. Epub 2015 Dec 18.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1186/s13039-015-0199-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683855PMC
December 2015

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Eur J Hum Genet 2015 Nov 13;23(11):1460-1. Epub 2015 May 13.

Dipartimento di Biochimica Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613473PMC
November 2015

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984901PMC
August 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

Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review.

Radiol Med 2014 Jun 3;119(6):415-21. Epub 2013 Dec 3.

Department of Diagnostic Imaging, Neuroradiology University Federico II of Naples, Naples, Italy,

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http://dx.doi.org/10.1007/s11547-013-0358-8DOI Listing
June 2014

Effect of long-term GH treatment in a patient with CHARGE association.

Ital J Pediatr 2014 Jun 2;40:51. Epub 2014 Jun 2.

Pediatric Section, Department of Medical Translational Sciences, University "Federico II" of Naples, Naples, Italy.

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http://dx.doi.org/10.1186/1824-7288-40-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105885PMC
June 2014

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Gene 2014 Mar 15;538(1):69-73. Epub 2014 Jan 15.

Department of Translational Medical Sciences, Division of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.01.017DOI Listing
March 2014

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

Ital J Pediatr 2014 Mar 19;40(1):30. Epub 2014 Mar 19.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1824-7288-40-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974180PMC
March 2014

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

BMC Med Genet 2014 Jan 28;15:15. Epub 2014 Jan 28.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925134PMC
January 2014

Good cognitive performances in a child with Prader-Willi syndrome.

Ital J Pediatr 2013 Nov 15;39:74. Epub 2013 Nov 15.

Department of Translational Medical Sciences, Federico II University of Naples, Italy, Via Pansini, 5-80131 Naples, Italy.

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http://dx.doi.org/10.1186/1824-7288-39-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832878PMC
November 2013

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

Pol J Radiol 2013 Oct 19;78(4):83-7. Epub 2013 Nov 19.

Department of Advanced Biomedical Sciences, Unit of Neuroradiology, Federico II University, Naples, Italy.

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http://dx.doi.org/10.12659/PJR.889531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514PMC
October 2013

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Pediatr Diabetes 2013 Aug 4;14(5):384-7. Epub 2013 Jan 4.

Department of Pediatrics, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1111/j.1399-5448.2012.00921.xDOI Listing
August 2013

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association.

Eur J Pediatr 2009 Feb 14;168(2):225-7. Epub 2008 May 14.

Pediatric Liver Unit, Department of Pediatrics, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1007/s00431-008-0732-zDOI Listing
February 2009

Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

Mol Genet Metab 2008 Apr 20;93(4):398-402. Epub 2008 Feb 20.

Unit of Rare Diseases, II Pediatric Division, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.134DOI Listing
April 2008

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.

Am J Med Genet A 2008 Feb;146A(3):327-9

Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32149DOI Listing
February 2008

Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.

Clin Dysmorphol 2006 Jan;15(1):13-8

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1097/01.mcd.0000181602.70629.67DOI Listing
January 2006

Sulfur amino acids in Cushing's disease: insight in homocysteine and taurine levels in patients with active and cured disease.

J Clin Endocrinol Metab 2005 Dec 20;90(12):6616-22. Epub 2005 Sep 20.

Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1210/jc.2005-0656DOI Listing
December 2005

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Eur J Pediatr 2005 Aug 19;164(8):501-8. Epub 2005 May 19.

Dipartimento di Pediatria, Università Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.

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http://dx.doi.org/10.1007/s00431-005-1657-4DOI Listing
August 2005

Nephrolithiasis in Cushing's disease: prevalence, etiopathogenesis, and modification after disease cure.

J Clin Endocrinol Metab 2003 May;88(5):2076-80

Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1210/jc.2002-021494DOI Listing
May 2003