Maria Lisa Dentici

Maria Lisa Dentici

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Maria Lisa Dentici

Maria Lisa Dentici

Publications by authors named "Maria Lisa Dentici"

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34Publications

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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Int J Mol Sci 2020 Feb 18;21(4). Epub 2020 Feb 18.

Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms21041385DOI Listing
February 2020

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Am J Med Genet A 2019 Aug 20;179(8):1570-1574. Epub 2019 May 20.

Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61195
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http://dx.doi.org/10.1002/ajmg.a.61195DOI Listing
August 2019

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 Aug 17;20(3):145-154. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
August 2019

A Child with Diminished Linear Growth and Waddling Gait.

J Pediatr 2018 10 8;201:297-297.e1. Epub 2018 May 8.

University of Trieste Trieste, Italy; Pediatrics Institute for Maternal and Child Health-IRCCS "Burlo Garofolo" Trieste, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476183049
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http://dx.doi.org/10.1016/j.jpeds.2018.04.007DOI Listing
October 2018

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.

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

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

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
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.

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

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 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.

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

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.

Neurogenetics 2014 Mar 8;15(1):41-8. Epub 2013 Nov 8.

Sección de Fisiología, Departamento de Ciencias Fisiológicas II, Universidad de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10048-013-0381-xDOI Listing
March 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.

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

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

The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.

Am J Med Genet A 2011 Mar 22;155A(3):459-65. Epub 2011 Feb 22.

Bambino Gesú Pediatric Hospital, IRCCS, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.33642
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http://dx.doi.org/10.1002/ajmg.a.33642DOI Listing
March 2011

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

Eur J Med Genet 2009 Nov-Dec;52(6):421-5. Epub 2009 Oct 1.

IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.008DOI Listing
February 2010