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Author

Irene Bottillo

Observed names: BOTTILLO, IRENE, Bottillo, I., Bottillo, Irene, I Bottillo, I. Bottillo
Observed institutions: Casa Sollievo della Sofferenza, Policlinico Umberto I, Azienda Ospedaliera San Camillo-Forlanini, Qingdao Municipal Hospital, Carlo Forlanini Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Sapienza University of Rome
ORCID: 0000-0003-0396-7981
Observed ORCID: 0000-0003-0396-7981
OpenAlex ID: A5071821979
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome
2005 · Alessandro De Luca, Irene Bottillo, et al. · The American Journal of Human Genetics · 154
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
2014 · Valentina Pinna, Valentina Lanari, et al. · European Journal of Human Genetics · 135
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Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
2010 · Francesco Brancati, Paola Fortugno, et al. · The American Journal of Human Genetics · 123
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Germline and somatic NF1 mutations in sporadic and NF1‐associated malignant peripheral nerve sheath tumours
2008 · Irene Bottillo, Terje Ahlquist, et al. · The Journal of Pathology · 118
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
2007 · A De Luca, I Bottillo, et al. · Journal of Medical Genetics · 77
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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
2009 · Laura Bernardini, Viola Alesi, et al. · European Journal of Human Genetics · 65
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Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF
2008 · Angelo Carbone, Laura Bernardini, et al. · Genes Chromosomes and Cancer · 57
RAS Signaling in Colorectal Carcinomas through Alteration of RAS, RAF, NF1, and/or RASSF1A
2008 · Terje Ahlquist, Irene Bottillo, et al. · Neoplasia · 56
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Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1
2004 · Alessandro De Luca, Annalisa Schirinzi, et al. · Human Mutation · 50
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A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
2016 · Irene Bottillo, Carla Giordano, et al. · Cardiovascular Pathology · 44
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
2010 · L Sinibaldi, G Harifi, et al. · PubMed · 44
Functional analysis of splicing mutations in exon 7 of NF1gene
2007 · Irene Bottillo, Alessandro De Luca, et al. · BMC Medical Genetics · 38
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Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy
2015 · Irene Bottillo, Daniela D'Angelantonio, et al. · Gene · 37
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Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes
2007 · Laura Bernardini, Chiara Palka, et al. · American Journal of Medical Genetics Part A · 35
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay
2021 · Ruixiao Zhang, Zeqing Chen, et al. · Human Mutation · 33
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Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion
2010 · Irene Bottillo, Isabella Torrente, et al. · American Journal of Medical Genetics Part A · 33
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
2013 · Irene Bottillo, Marco Castori, et al. · BMC Research Notes · 28
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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
2021 · Chiara Nicolazzo, Ludovic Barault, et al. · Cancer Letters · 27
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The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment
2020 · Sarah Mosca, Giorgia Cardinali, et al. · Pigment Cell & Melanoma Research · 26
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HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
2009 · L Bernardini, L Sinibaldi, et al. · Clinical Genetics · 25
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome
2021 · Paola Pontecorvi, Laura Bernardini, et al. · Scientific Reports · 23
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A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria
2016 · Xiangzhong Zhao, Li Cui, et al. · Scientific Reports · 23
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Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay
2020 · Sai Wang, Yixiu Wang, et al. · Frontiers in Genetics · 22
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Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
2015 · Xinsheng Wang, Xiangzhong Zhao, et al. · American Journal of Nephrology · 22
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TBX2 gene duplication associated with complex heart defect and skeletal malformations
2010 · Francesca Clementina Radio, Laura Bernardini, et al. · American Journal of Medical Genetics Part A · 22
Works count: 103
Citation count: 1,697
H-index: 22
I10-index: 39
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