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The Journal of Pathology|January 15, 2009
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumoursIrene Bottillo, Terje Ahlquist, Helge Brekke, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1Martino Ruggieri, Mario Mastrangelo, Alberto Spalice, et al.
Neurogenetics|March 3, 2011
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletionAntonio Pizzuti, Irene Bottillo, Francesca Inzana, et al.
Psychiatric Genetics|February 7, 2019
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneGiulia Pascolini, Silvia Majore, Michele Valiante, et al.
Frontiers in Genetics|November 30, 2020
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene AssaySai Wang, Yixiu Wang, Jinchao Wang, et al.
Scientific Reports|September 27, 2016
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuriaXiangzhong Zhao, Li Cui, Yanhua Lang, et al.
Neoplasia (New York, N.Y.)|July 2, 2008
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1ATerje Ahlquist, Irene Bottillo, Stine A Danielsen, et al.
BMC Medical Genetics|February 14, 2007
Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo, Alessandro De Luca, Annalisa Schirinzi, et al.
Molecular Genetics & Genomic Medicine|January 4, 2023
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndromeXiaomeng Shi, Hong Wang, Ruixiao Zhang, et al.
Human Mutation|June 22, 2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assayRuixiao Zhang, Zeqing Chen, Qijing Song, et al.
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