Publications by authors named "Maria Cristina Digilio"

100Publications

Genetics of atrioventricular canal defects.

Ital J Pediatr 2020 May 13;46(1):61. Epub 2020 May 13.

Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Policlinico Umberto I, Viale Regina Elena, 324, 00161, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-020-00825-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222302PMC
May 2020

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.

Epilepsy Behav 2020 Jul 11;108:107097. Epub 2020 May 11.

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Member of European Reference Network EpiCARE. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2020.107097DOI Listing
July 2020

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Am J Med Genet A 2020 06 22;182(6):1342-1350. Epub 2020 Apr 22.

Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61586DOI Listing
June 2020

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Am J Med Genet A 2020 05 3;182(5):1073-1083. Epub 2020 Mar 3.

Laboratory of Medical Genetics, Medical Genetics, Rare Diseases, Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61524DOI Listing
May 2020

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Int J Pediatr Otorhinolaryngol 2020 Feb 22;129:109790. Epub 2019 Nov 22.

Audiology and Otosurgery Unit, "Bambino Gesù" Pediatric Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2019.109790DOI Listing
February 2020

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Orphanet J Rare Dis 2019 07 5;14(1):163. Epub 2019 Jul 5.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital and Research Institute, Viale di San Paolo 15, 00146, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1151-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610955PMC
July 2019

Chlamyphilone, a Novel Metabolite with Insecticidal Activity.

Molecules 2019 Feb 19;24(4). Epub 2019 Feb 19.

Dipartimento di Agraria, Università degli Studi di Napoli Federico II, 80055 Portici (NA), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules24040750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412625PMC
February 2019

promoter deletion causes endoactivation and Liebenberg syndrome.

J Med Genet 2019 04 2;56(4):246-251. Epub 2019 Feb 2.

Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2018-105793DOI Listing
April 2019

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

Am J Med Genet A 2019 01 20;179(1):113-117. Epub 2018 Dec 20.

Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.60674DOI Listing
January 2019

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Eur J Med Genet 2019 Apr 23;62(4):243-247. Epub 2018 Jul 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.07.022DOI Listing
April 2019

Cardiovascular disease in Noonan syndrome.

Curr Opin Pediatr 2018 10;30(5):601-608

Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOP.0000000000000669DOI Listing
October 2018

Neurobehavioral features in individuals with Kabuki syndrome.

Mol Genet Genomic Med 2018 05 13;6(3):322-331. Epub 2018 Mar 13.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014453PMC
May 2018

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Heart Fail Clin 2018 Apr;14(2):225-235

Pediatric Cardiology, Department of Pediatrics, Sapienza University, Viale Regina Elena 324, Rome 00161, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hfc.2017.12.005DOI Listing
April 2018

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Eur J Paediatr Neurol 2018 May 3;22(3):552-557. Epub 2018 Feb 3.

Medical Genetics Unit, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.01.024DOI Listing
May 2018

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Jul 12;61(7):411-415. Epub 2018 Feb 12.

The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.02.006DOI Listing
July 2018

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

Int J Pediatr Otorhinolaryngol 2017 Dec 12;103:109-112. Epub 2017 Oct 12.

Surgery Department, Otorhinolaryngology Unit, Bambino Gesù Paediatric Hospital, Scientific Research Institute, 00100 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2017.10.017DOI Listing
December 2017

Psychopathological features in Noonan syndrome.

Eur J Paediatr Neurol 2018 Jan 28;22(1):170-177. Epub 2017 Sep 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.09.009DOI Listing
January 2018

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Am J Med Genet A 2017 Nov 8;173(11):2912-2922. Epub 2017 Sep 8.

Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38417DOI Listing
November 2017

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

Expert Rev Mol Diagn 2017 09 3;17(9):861-870. Epub 2017 Aug 3.

b Department of Pediatrics , Sapienza University , Rome , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737159.2017.1360766DOI Listing
September 2017

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Am J Med Genet A 2017 Jul 7;173(7):1965-1969. Epub 2017 May 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38255DOI Listing
July 2017

Trichoderma harzianum enhances tomato indirect defense against aphids.

Insect Sci 2017 Dec 10;24(6):1025-1033. Epub 2017 Jul 10.

Department of Agricultural Sciences, University of Naples Federico II, Portici, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1744-7917.12475DOI Listing
December 2017

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

What Is New in Genetics of Congenital Heart Defects?

Front Pediatr 2016 1;4:120. Epub 2016 Dec 1.

Pediatric Cardiology, Department of Pediatrics, Sapienza University , Rome , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2016.00120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130977PMC
December 2016

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Genet Med 2016 12 29;18(12):1320. Epub 2016 Sep 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.137DOI Listing
December 2016

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

Am J Med Genet A 2016 Mar 21;170(3):665-9. Epub 2015 Dec 21.

Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37505DOI Listing
March 2016

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Am J Med Genet A 2016 Mar 21;170(3):661-4. Epub 2015 Dec 21.

Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37503DOI Listing
March 2016

Gershoni-Baruch syndrome: First report of a surviving child.

Am J Med Genet A 2016 Mar 6;170(3):707-11. Epub 2015 Dec 6.

Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37480DOI Listing
March 2016

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients.

Pediatr Allergy Immunol 2015 Sep;26(6):591-4

Department of Pediatrics, University of Rome Tor Vergata and Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pai.12420DOI Listing
September 2015

Host regulation and nutritional exploitation by parasitic wasps.

Curr Opin Insect Sci 2014 Dec 5;6:74-79. Epub 2014 Oct 5.

Dipartimento di Agraria, BiPAF - Laboratorio di Entomologia "E. Tremblay", Università degli Studi di Napoli "Federico II", Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cois.2014.09.018DOI Listing
December 2014

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 4;168B(1):66-71. Epub 2014 Nov 4.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32279DOI Listing
January 2015

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.

Am J Med Genet A 2014 Jun 24;164A(6):1419-24. Epub 2014 Mar 24.

Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36459DOI Listing
June 2014

Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.

Clin Dysmorphol 2014 Apr;23(2):45-6

aRare Diseases and Medical Genetic Unit bDPUO Endocrinologic Unit cGeneral Pediatrics and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-201404000-000
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000023DOI Listing
April 2014

Behavioral profile in RASopathies.

Am J Med Genet A 2014 Apr 23;164A(4):934-42. Epub 2014 Jan 23.

Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36374DOI Listing
April 2014

JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.

Am J Med Genet A 2013 Dec 16;161A(12):3133-6. Epub 2013 Aug 16.

Medical Genetics and Cytogenetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36148DOI Listing
December 2013

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Eur J Hum Genet 2014 Jan 12;22(1):64-70. Epub 2013 Jun 12.

1] Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy [2] Reproduction and Development Sciences, University of Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865388PMC
January 2014

[Congenital heart diseases in women].

G Ital Cardiol (Rome) 2013 Feb;14(2):120-5

Dipartimento di Pediatria e Neuropsichiatria Infantile, Sapienza Universita di Roma, Roma.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1714/1218.13524DOI Listing
February 2013

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):17-23. Epub 2012 Nov 26.

Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32113DOI Listing
January 2013

Atrioventricular canal defect in patients with RASopathies.

Eur J Hum Genet 2013 Feb 11;21(2):200-4. Epub 2012 Jul 11.

Department of Medical Genetics, Cytogenetics, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548264PMC
February 2013

Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: a comparison of prodromal psychotic symptoms and general functioning.

Schizophr Res 2012 Aug 23;139(1-3):151-6. Epub 2012 May 23.

Child and Adolescence Neuropsychiatry Unit, Department of Neuroscience, Children Hospital Bambino Gesù, Piazza Sant'Onofrio 4, 00100 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.schres.2012.04.020DOI Listing
August 2012

Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning.

Dev Med Child Neurol 2012 Jan 23;54(1):49-51. Epub 2011 Nov 23.

Unit of Pediatric Neuropsychiatry, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.  

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2011.04139.xDOI Listing
January 2012

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Am J Med Genet A 2011 Sep 3;155A(9):2196-202. Epub 2011 Aug 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34131DOI Listing
September 2011

Acro-cardio-facial syndrome.

Orphanet J Rare Dis 2010 Sep 29;5:25. Epub 2010 Sep 29.

Division of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S, Onofrio 4, 00165, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-5-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955584PMC
September 2010

Shells and heart: are human laterality and chirality of snails controlled by the same maternal genes?

Am J Med Genet A 2010 Oct;152A(10):2419-25

Department of Biology and Biotechnologies Charles Darwin, La Sapienza University of Rome, and Clinical Genetics, Bambino Gesù Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33655DOI Listing
October 2010

Molecular and chemical mechanisms involved in aphid resistance in cultivated tomato.

New Phytol 2010 Sep 7;187(4):1089-101. Epub 2010 Jan 7.

Dipartimento di Entomologia e Zoologia agraria Filippo Silvestri, Università di Napoli Federico II, Via Università 100, 80055 Portici (NA), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8137.2010.03314.xDOI Listing
September 2010