Teresa Giugliano
Seconda Università degli Studi di Napoli
31 Papers
108 Citations
Teresa Giugliano is an academic researcher from Seconda Università degli Studi di Napoli. The author has contributed to research in topics: Neurofibromatosis & Copy-number variation. The author has an hindex of 13, co-authored 31 publications.
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Papers
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Magdalena Koczkowska,Tom Callens,Yunjia Chen,Alicia Gomes,Alesha D. Hicks,Angela Sharp,Eric Johns,Kim Armfield Uhas,Linlea Armstrong,Katherine A. Bosanko,Dusica Babovic-Vuksanovic,Laura A. Baker,Donald Basel,Mario Bengala,James T. Bennett,Chelsea Chambers,Lola K. Clarkson,Maurizio Clementi,Fanny Cortés,Mitch Cunningham,M. Daniela D'Agostino,Martin B. Delatycki,Maria Cristina Digilio,Laura Dosa,Silvia Esposito,Stephanie Fox,Mary Louise Freckmann,Christine Fauth,Teresa Giugliano,Sandra Giustini,Allison L. Goetsch,Yael Goldberg,Robert S. Greenwood,Cristin Griffis,Karen W. Gripp,Punita Gupta,E. 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 W. Lichty,Robert Listernick,Michael J. Lyons,Isabelle Maystadt,Mayra Martinez Ojeda,Carey McDougall,Lesley K. McGregor,Daniela Melis,Nancy J. Mendelsohn,Małgorzata J.M. Nowaczyk,June Ortenberg,Karin Panzer,John Pappas,Mary Ella M 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 Trapane,Eva Trevisson,Nicole J. Ullrich,Jenneke van den Ende,Samantha A. Schrier Vergano,Stephanie E Wallace,Michael F. Wangler,David D. Weaver,Kaleb Yohay,Elaine H. Zackai,Jonathan Zonana,Vickie Zurcher,Kathleen Claes,Marica Eoli,Yolanda Martin,Katharina Wimmer,Alessandro De Luca,Eric Legius,Ludwine Messiaen +107 more
TL;DR: Although clinically relevant genotype–phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.
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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Marco Savarese,Marco Savarese,Lorenzo Maggi,Anna Vihola,Per Harald Jonson,Giorgio Tasca,Lucia Ruggiero,Luca Bello,Francesca Magri,Teresa Giugliano,Annalaura Torella,Anni Evilä,Giuseppina Di Fruscio,Olivier Vanakker,Sara Gibertini,Liliana Vercelli,Alessandra Ruggieri,Carlo Antozzi,H. Luque,Sandra Janssens,Maria Barbara Pasanisi,Chiara Fiorillo,Monika Raimondi,Manuela Ergoli,Luisa Politano,Claudio Bruno,Anna Rubegni,Marika Pane,Filippo M. Santorelli,Carlo Minetti,Corrado Angelini,Jan De Bleecker,Maurizio Moggio,Tiziana Mongini,Giacomo P. Comi,Lucio Santoro,Eugenio Mercuri,Elena Pegoraro,Marina Mora,Peter Hackman,Bjarne Udd,Bjarne Udd,Vincenzo Nigro +42 more
TL;DR: An evaluation of putative causative variants in the TTN gene, combining genetic, clinical, and imaging data with messenger RNA and/or protein studies is performed, and a specific workflow for the clinical interpretation of genetic findings in titin is proposed.
Arg 1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1
Claudia Santoro,Anna Maietta,Teresa Giugliano,Daniela Melis,Silverio Perrotta,Vincenzo Nigro,Giulio Piluso +6 more
TL;DR: Arg 1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neuroFibromatosis type 1 is found and this supports the idea that genotype-phenotype correlations are connected.
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Claudia Santoro,Pia Bernardo,Antonietta Coppola,Umberto Pugliese,Mario Cirillo,Teresa Giugliano,Giulio Piluso,Giuseppe Cinalli,Salvatore Striano,Carmela Bravaccio,Silverio Perrotta +10 more
TL;DR: Results suggest seizures are more frequent in NF1 children than in general pediatric population and that are someway related to NF1 in half of patients, and the clinician should first exclude brain tumors but also other, and rarer NF1-related scenarios, such as hydrocephalous and vasculopathies.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Teresa Giugliano,Claudia Santoro,Annalaura Torella,Francesca Del Vecchio Blanco,Anna Grandone,Maria Elena Onore,Mariarosa A. B. Melone,Giulia Straccia,Daniela Melis,Vincenzo Piccolo,Giuseppe Limongelli,Salvatore Buono,Silverio Perrotta,Vincenzo Nigro,Giulio Piluso +14 more
TL;DR: A molecular diagnosis was achieved in 69.5% of cases with only pigmentary manifestations, allowing a more appropriate clinical management of these patients, and will help to identify further novel genotype–phenotype associations that may have a positive impact on patient follow-up.
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