1. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. Issue 3 (10th February 2018) Authors: Shao, Leping; Cui, Li; Lu, Jingru; Lang, Yanhua; Bottillo, Irene; Zhao, Xiangzhong Journal: FEBS open bio Issue: Volume 8:Issue 3(2018) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An Additional Patient With 3q27.3 Microdeletion Syndrome. (March 2015) Authors: Castori, Marco; Bottillo, Irene; Laino, Luigi; Morlino, Silvia; Grammatico, Barbara; Grammatico, Paola Journal: Journal of child neurology Issue: Volume 30:Number 4(2015:Mar.) Page Start: 500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. (June 2019) Authors: Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola Journal: Psychiatric genetics Issue: Volume 29:Number 3(2019:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. (November 2016) Authors: Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco; Castori, Marco; Grammatico, Paola Journal: European journal of paediatric neurology Issue: Volume 20:Number 6(2016:Nov.) Page Start: 971 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman. (7th May 2022) Authors: Di Giosaffatte, Niccolò; Bottillo, Irene; Laino, Luigi; Iaquinta, Giovanni; Ferraris, Alessandro; Garzia, Mariagrazia; Bargiacchi, Simone; Mulargia, Claudia; Angelitti, Maria Rosaria; Palumbo, Fabiana; Grammatico, Barbara; Bartolelli, Cinzia; Salerno, Maria Giovanna; Rigacci, Luigi; Grammatico, P... Journal: Prenatal diagnosis Issue: Volume 42:Number 8(2022) Page Start: 1000 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. Issue 9 (30th June 2021) Authors: Zhang, Ruixiao; Chen, Zeqing; Song, Qijing; Wang, Sai; Liu, Zhiying; Zhao, Xiangzhong; Shi, Xiaomeng; Guo, Wencong; Lang, Yanhua; Bottillo, Irene; Shao, Leping Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Issue 4 (3rd January 2023) Authors: Shi, Xiaomeng; Wang, Hong; Zhang, Ruixiao; Liu, Zhiying; Guo, Wencong; Wang, Sai; Liu, Xuyan; Lang, Yanhua; Bottillo, Irene; Dong, Bingzi; Shao, Leping Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment. (16th July 2020) Authors: Mosca, Sarah; Cardinali, Giorgia; Flori, Enrica; Briganti, Stefania; Bottillo, Irene; Mileo, Anna M.; Maresca, Vittoria Journal: Pigment cell & melanoma research Issue: Volume 34:Number 1(2021) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. (1st June 2021) Authors: Nicolazzo, Chiara; Barault, Ludovic; Caponnetto, Salvatore; De Renzi, Gianluigi; Belardinilli, Francesca; Bottillo, Irene; Bargiacchi, Simone; Macagno, Marco; Grammatico, Paola; Giannini, Giuseppe; Cortesi, Enrico; Di Nicolantonio, Federica; Gazzaniga, Paola Journal: Cancer letters Issue: Volume 507(2021) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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 KCNJ16. Issue 1 (11th December 2015) Authors: Castori, Marco; Bottillo, Irene; Morlino, Silvia; Barone, Chiara; Cascone, Piero; Grammatico, Paola; Laino, Luigi Journal: Birth defects research Issue: Volume 106:Issue 1(2016) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗