Publications by authors named "Francesca Romana Lepri"

26Publications

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

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April 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 01 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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January 2019

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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November 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.

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May 2018

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.

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December 2016

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Am J Med Genet A 2015 Jul 28;167(7):1637-43. Epub 2015 Mar 28.

Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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July 2015