Publications by authors named "Valentina Pinna"

11Publications

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.

Fam Cancer 2020 Nov 19. Epub 2020 Nov 19.

Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.

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November 2020

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 01 26;41(1):299-315. Epub 2019 Oct 26.

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

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January 2020

Sudden occurrence of Roth spots and retinal hemorrhages following endoscopic adhesiolysis: an SD-OCT evaluation.

Eur J Ophthalmol 2015 Dec 1;26(1):e11-3. Epub 2015 Dec 1.

Ophthalmological Unit, Ca' Granda Foundation-Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan - Italy.

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December 2015

Longitudinal modifications of the Ozurdex intravitreal implant as imaged by SD-OCT.

Eur J Ophthalmol 2015 May-Jun;25(3):266-9. Epub 2015 Jan 15.

Ophthalmological Unit, Ca' Granda Foundation-Ospedale Maggiore Policlinico, University of Milan, Department of Clinical Sciences and Community Health, Milan - Italy.

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July 2015

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

J Clin Neurosci 2014 Feb 15;21(2):328-30. Epub 2013 Aug 15.

Department of Educational Processes, Chair of Pediatrics, University of Catania, Italy.

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February 2014