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Molecular Cytogenetics|November 10, 2015
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial caseElisa Tassano, Stefania Gimelli, Maria Teresa Divizia, et al.
Journal of Applied Toxicology : JAT|January 7, 2012
Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cellsAndré-Pascal Sappino, Raphaële Buser, Laurence Lesne, et al.
European Journal of Medical Genetics|November 15, 2011
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, et al.
Plos One|April 18, 2013
Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of MibelliCorrado Occella, Dario Bleidl, Paolo Nozza, et al.
Stem Cell Research|August 18, 2020
Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donorErika Cosset, Tieng Vannary, Frédérique Sloan-Béna, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromesStefania Gimelli, Jacqueline Chrast, Anwar Baban, et al.
Journal of Cellular and Molecular Medicine|May 4, 2011
Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potentialYannick Martinez, Frédérique Béna, Stefania Gimelli, et al.
Human Molecular Genetics|February 25, 2010
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeatsFrédérique Béna, Stefania Gimelli, Eugenia Migliavacca, et al.
Molecular Cytogenetics|November 28, 2013
A rare 3q13.31 microdeletion including GAP43 and LSAMP genesStefania Gimelli, Massimiliano Leoni, Maja Di Rocco, et al.
Orphanet Journal of Rare Diseases|April 5, 2011
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected childrenCristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, et al.
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