V. Disciglio

发表

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

M. Bartolini, G. Giannelli, L. Ottini, 2020, iScience.

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

R. Guerrini, O. Zuffardi, A. Renieri, 2012, American journal of medical genetics. Part A.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2012, Journal of Human Genetics.

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome

A. Di Carlo, M. Caruso, A. Valentini, 2018, The International journal of biological markers.

iPS cells to model CDKL5-related disorders

M. C. Epistolato, J. Ellis, A. Renieri, 2011, European Journal of Human Genetics.

A Low Glycemic Index Mediterranean Diet Combined with Aerobic Physical Activity Rearranges the Gut Microbiota Signature in NAFLD Patients

G. Giannelli, C. Bonfiglio, M. De Angelis, 2022, Nutrients.

c-MYC Protein Stability Is Sustained by MAPKs in Colorectal Cancer

G. Giannelli, A. Valentini, C. Simone, 2022, Cancers.

Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

M. Bartolini, G. Giannelli, L. Ottini, 2020, iScience.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

G. Valle, L. De Cecco, S. Canevari, 2016, Chinese journal of cancer.

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

S. Manoukian, A. Ferrari, B. Pasini, 2014, BMC Medical Genetics.

Identification of a gene expression driven progression pathway in myxoid liposarcoma

L. De Cecco, S. Canevari, P. Casali, 2014, Oncotarget.

FOXO3a from the Nucleus to the Mitochondria: A Round Trip in Cellular Stress Response

C. Simone, V. Disciglio, C. Fasano, 2019, Cells.

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA

T. Hadjistilianou, M. C. Epistolato, S. Lazzi, 2012, Pathology & Oncology Research.

Pharmacological targeting of the novel β-catenin chromatin-associated kinase p38α in colorectal cancer stem cell tumorspheres and organoids

G. Stassi, G. Giannelli, G. Ingravallo, 2021, Cell Death & Disease.

FOXO3 on the Road to Longevity: Lessons From SNPs and Chromatin Hubs

C. Simone, V. Disciglio, P. Sanese, 2019, Computational and structural biotechnology journal.

From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome

A. Pisani, G. Ingravallo, C. Simone, 2021, International journal of molecular sciences.

Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors

A. Valentini, C. Simone, V. Disciglio, 2022, Genes.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Investigation of modifier genes within copy number variations in Rett syndrome

J. LaSalle, A. Renieri, M. Mucciolo, 2011, Journal of Human Genetics.

APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

C. Simone, V. Disciglio, P. Sanese, 2021, Genes.

APC Splicing Mutations Leading to In-Frame Exon Skipping are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

C. Simone, V. Disciglio, P. Sanese, 2021 .

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

A. Acquaviva, T. Hadjistilianou, M. C. Epistolato, 2011, Journal of Human Genetics.

p 53 Arg 72 Pro and MDM 2 309 SNPs in hereditary retinoblastoma

T. Hadjistilianou, M. C. Epistolato, D. Giachino, 2014 .

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

C. Simone, V. Disciglio, A. Stella, 2019, Journal of Medical Genetics.