Publications by authors named "Maria C Digilio"

32Publications

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Am J Med Genet A 2020 Aug 23;182(8):1977-1984. Epub 2020 Jun 23.

Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS Rome, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61719DOI Listing
August 2020

Defining language disorders in children and adolescents with Noonan Syndrome.

Mol Genet Genomic Med 2020 04 14;8(4):e1069. Epub 2020 Feb 14.

Department of Neuroscience, Child and Adolescent Psychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/mgg3.1069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196479PMC
April 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 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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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Novel clinical features associated with Clouston syndrome.

Int J Dermatol 2019 Aug 5;58(8):e143-e146. Epub 2019 Jun 5.

Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1111/ijd.14507DOI Listing
August 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 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.

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

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

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

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.

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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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Cardiovascular disease in Down syndrome.

Curr Opin Pediatr 2018 10;30(5):616-622

Department of Pediatrics, Sapienza University of Rome.

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http://dx.doi.org/10.1097/MOP.0000000000000661DOI Listing
October 2018

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Congenit Heart Dis 2018 May 5;13(3):401-406. Epub 2018 Feb 5.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/chd.12578DOI Listing
May 2018

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Am J Med Genet A 2017 Jul 10;173(7):1943-1946. Epub 2017 May 10.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38269DOI Listing
July 2017

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.

Clin Dysmorphol 2014 Jan;23(1):32-4

aDepartment of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS bDepartment of Neuropsychiatry, Sapienza University, Rome cMendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, Rome and San Giovanni Rotondo, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000019DOI Listing
January 2014

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.

Cardiol Young 2013 Feb 6;23(1):14-7. Epub 2012 Mar 6.

Department of Medical Genetics, Cardiology and Pathology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://www.journals.cambridge.org/abstract_S1047951112000194
Publisher Site
http://dx.doi.org/10.1017/S1047951112000194DOI Listing
February 2013

Obituary of Dr. Angelo di George.

Ital J Pediatr 2010 Mar 4;36:22. Epub 2010 Mar 4.

Dipartamento di Pediatria, Sapienza Università di Roma, Roma Italy.

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http://dx.doi.org/10.1186/1824-7288-36-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845140PMC
March 2010

Genetic syndromes and outcome after surgical correction of tetralogy of Fallot.

Ann Thorac Surg 2006 Mar;81(3):968-75

Dipartimento Medico-Chirurgico di Cardiochirurgia e Cardiologia Pediatrica, DMCCP, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1016/j.athoracsur.2005.09.033DOI Listing
March 2006