Concepedia

Marilena Carmela Di Giacomo

MC

16

Publications

472

Citations

13

H-Index

2004

Active since

Affiliations

Ospedale San Carlo(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

University of Bari Aldo Moro

Casa Sollievo della Sofferenza

University of Milan

Marilena Carmela Di Giacomo is an author at Ospedale San Carlo specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

2004–2022

16

Publications

16

A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

Wanda Lattanzi, Marilena Carmela Di Giacomo, Gennaro Mariano Lenato et al. · Human Genetics · 2005 · 89 citations

, , +9

A homozygous frameshift mutation in the <i>ESCO2</i> gene: Evidence of intertissue and interindividual variation in Nmd efficiency

Nicoletta Resta, Francesco Susca, Marilena Carmela Di Giacomo et al. · Journal of Cellular Physiology · 2006 · 53 citations

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 48 citations · Full text

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey et al. · Genetics in Medicine · 2021 · 45 citations

, , +12

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population

Gennaro Mariano Lenato, Patrizia Lastella, Marilena Carmela Di Giacomo et al. · Human Mutation · 2006 · 38 citations · Full text

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