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Genes|December 23, 2023
Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268"Niccolò Di Giosaffatte, Paola Grammatico, Irene Bottillo
FEBS Open Bio|March 8, 2018
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type IILeping Shao, Li Cui, Jingru Lu, et al.
BMC Nephrology|July 15, 2018
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case reportJingru Lu, Xiangzhong Zhao, Alessandro Paiardini, et al.
Journal of Child Neurology|July 20, 2014
An additional patient with 3q27.3 microdeletion syndromeMarco Castori, Irene Bottillo, Luigi Laino, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 15, 2015
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16Marco Castori, Irene Bottillo, Silvia Morlino, et al.
European Journal of Medical Genetics|August 18, 2019
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletionGiulia Pascolini, Michele Valiante, Irene Bottillo, et al.
Genes|February 25, 2023
RADX Gene Variant May Predispose to Familial Asperger SyndromeAlessia Azzarà, Roberto Rumore, Fulvia Brugnoletti, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
TBX2 gene duplication associated with complex heart defect and skeletal malformationsFrancesca Clementina Radio, Laura Bernardini, Sara Loddo, et al.
Pigment Cell & Melanoma Research|July 2, 2020
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigmentSarah Mosca, Giorgia Cardinali, Enrica Flori, et al.
Cancers|April 14, 2025
Evolution of Neo-RAS-WT in Circulating Tumor DNA from First-Line to Subsequent Therapies in Metastatic Colorectal CancerMarco Siringo, Michela De Meo, Irene Bottillo, et al.
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