Publications by authors named "Luca Pannone"

11Publications

Biallelic mutations in the gene cause a novel primary ciliopathy.

J Med Genet 2020 Aug 3. Epub 2020 Aug 3.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1136/jmedgenet-2020-106833DOI Listing
August 2020

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Am J Med Genet A 2014 Sep 28;164A(9):2351-5. Epub 2014 May 28.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.36620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134745PMC
September 2014