I. Bottillo

发表

Germline and somatic NF1 mutations in sporadic and NF1‐associated malignant peripheral nerve sheath tumours

R. Lothe, E. van den Berg, B. Dallapiccola, 2009, The Journal of pathology.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

M. Digilio, B. Dallapiccola, A. Bruselles, 2014, European Journal of Human Genetics.

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

A. Polizzi, I. Bottillo, I. Torrente, 2011, American journal of medical genetics. Part A.

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

I. Bottillo, S. Morlino, P. Grammatico, 2017, Cellular Physiology and Biochemistry.

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion

B. Dallapiccola, S. Giustini, L. Divona, 2010, American journal of medical genetics. Part A.

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

M. Digilio, B. Dallapiccola, A. Pizzuti, 2007, American journal of medical genetics. Part A.

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

L. Bernardini, I. Bottillo, F. Cardona, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

B. Dallapiccola, A. Pizzuti, I. Bottillo, 2011, neurogenetics.

An Additional Patient With 3q27.3 Microdeletion Syndrome

I. Bottillo, M. Castori, S. Morlino, 2015, Journal of child neurology.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

E. Bertini, A. D’Amico, F. Musumeci, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

I. Bottillo, S. Tuffery-Giraud, Ting Liu, 2016, Scientific Reports.

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

I. Bottillo, S. Morlino, P. Grammatico, 2017, Cellular Physiology and Biochemistry.

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

L. Bernardini, S. Giustini, L. Divona, 2007, Journal of Medical Genetics.

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

I. Bottillo, A. Paiardini, P. Grammatico, 2022, Genes.

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

I. Bottillo, P. Grammatico, L. Laino, 2022, Prenatal diagnosis.

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.

G. Giannini, F. Di Nicolantonio, I. Bottillo, 2021, Cancer letters.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

I. Bottillo, P. Grammatico, L. Laino, 2014, Endocrine connections.

The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment

E. Flori, I. Bottillo, S. Briganti, 2020, Pigment cell & melanoma research.

A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.

I. Bottillo, A. Paiardini, R. Sestini, 2020, Dermatology online journal.

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

N. Fleischer, I. Bottillo, P. Grammatico, 2020, European journal of medical genetics.

Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3

I. Bottillo, S. Tuffery-Giraud, Xiaoling Wang, 2015, American Journal of Nephrology.

TBX2 gene duplication associated with complex heart defect and skeletal malformations

B. Dallapiccola, L. Bernardini, R. Mingarelli, 2010, American journal of medical genetics. Part A.

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

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

D. Taruscio, F. Brancati, A. Ferlini, 2018, European Journal of Human Genetics.

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations

I. Bottillo, C. Lintas, R. Sacco, 2022, Genes.

Congenital heart defects in the recurrent 2q13 deletion syndrome.

B. Marino, B. Dallapiccola, I. Bottillo, 2021, European journal of medical genetics.

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

S. Ceccarelli, A. Pizzuti, L. Bernardini, 2021, Scientific reports.

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

I. Bottillo, A. Paiardini, P. Grammatico, 2020, International journal of molecular sciences.

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1

B. Dallapiccola, A. Buccino, S. Giustini, 2004, Human mutation.

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A.

R. Lothe, B. Dallapiccola, I. Bottillo, 2008, Neoplasia.

RAS Signaling in Colorectal Carcinomas through Alterations of RAS, RAF,

R. Lothe, B. Dallapiccola, I. Bottillo, 2008 .

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

B. Dallapiccola, L. Bernardini, S. Giustini, 2007, Journal of Medical Genetics.

Functional analysis of splicing mutations in exon 7 of NF1 gene

B. Dallapiccola, A. Pizzuti, V. Guida, 2007, BMC Medical Genetics.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I

I. Bottillo, Sai Wang, Cui Wang, 2019, Endocrine.

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

I. Bottillo, V. Pinna, I. Torrente, 2014, Journal of Clinical Neuroscience.

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

A. Battaglia, P. Fortina, S. Surrey, 2010, European Journal of Human Genetics.

Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.

I. Bottillo, P. Grammatico, F. Signore, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish cases affected by hypertrophic cardiomyopathy.

I. Bottillo, P. Grammatico, L. Laino, 2020, Polish archives of internal medicine.

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.

I. Bottillo, P. Cascone, M. Castori, 2016, Birth defects research. Part A, Clinical and molecular teratology.

I. Bottillo, P. Grammatico, B. Grammatico, 2022, European Journal of Human Genetics.

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay

I. Bottillo, Zhiying Liu, Sai Wang, 2021, Human mutation.

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

V. Caputo, A. Pizzuti, I. Bottillo, 2016, Gene.

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

I. Bottillo, Zhiying Liu, Sai Wang, 2020, Frontiers in Genetics.

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

B. Dallapiccola, L. Bernardini, I. Bottillo, 2009, Clinical genetics.

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Hong Wang, I. Bottillo, Zhiying Liu, 2021, Molecular genetics & genomic medicine.

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

S. Ceccarelli, A. Pizzuti, L. Bernardini, 2021, Scientific Reports.

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

S. Mundlos, F. Brancati, B. Dallapiccola, 2010, American journal of human genetics.

Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes

B. Dallapiccola, L. Bernardini, R. Mingarelli, 2008, American journal of medical genetics. Part A.

Clinical Report Complex Rearrangement of Chromosome 7q21.13- q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate Genes

B. Dallapiccola, L. Bernardini, R. Mingarelli, 2008 .

Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

A. Pizzuti, H. Houlden, I. Bottillo, 2010, Journal of the Neurological Sciences.

Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments

G. Giannini, I. Bottillo, P. Grammatico, 2021, Diagnostics.

A novel germline mutation in CDK4 codon 24 associated to familial melanoma

C. Mecucci, I. Bottillo, A. Paiardini, 2018, Clinical genetics.

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.

F. Brancati, B. Dallapiccola, I. Bottillo, 2010, Clinical and experimental rheumatology.

RADX Gene Variant May Predispose to Familial Asperger Syndrome

I. Bottillo, F. Gurrieri, E. Tabolacci, 2023, Genes.

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 report

I. Bottillo, A. Paiardini, Jingru Lu, 2018, BMC Nephrology.

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

I. Bottillo, Xuejun Liu, Ruixiao Zhang, 2018, BMC Medical Genetics.

Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel

D. Bruzzese, S. Tommasi, R. Lacalamita, 2020, Frontiers in Oncology.

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

I. Bottillo, M. Castori, S. Morlino, 2014, Molecular Syndromology.

Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF

B. Dallapiccola, L. Bernardini, I. Bottillo, 2008, Genes, chromosomes & cancer.

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

I. Bottillo, P. Grammatico, L. Laino, 2022, Genes.

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

I. Bottillo, Jingru Lu, L. Shao, 2018, FEBS open bio.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

E. Bertini, A. D’Amico, F. Musumeci, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

I. Bottillo, E. Agolini, A. Novelli, 2019, Psychiatric genetics.

A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

I. Bottillo, A. Azzarà, Ilaria Cassano, 2024, Frontiers in neuroscience.