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List of works by Elena Bonora

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

scientific article

A Greek Family with a Follicular Variant of Familial Papillary Thyroid Carcinoma: TCO, MNG1, fPTC/PRN, and NMTC1 Excluded as Susceptibility Loci

scientific article published on 01 December 2005

A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors.

scientific article

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

scientific article

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.

scientific article

Analysis of reelin as a candidate gene for autism

scientific article

Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways

scientific article

C620R mutation of the murineret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes

article

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma

scientific article published on 21 December 2007

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

scientific article

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

scholarly article

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

scientific article

Enteric neuropathies: Yesterday, Today and Tomorrow.

scientific article

Expression of the Bitter Taste Receptor, T2R38, in Enteroendocrine Cells of the Colonic Mucosa of Overweight/Obese vs. Lean Subjects

scientific article published on 11 February 2016

GSTT1 and M1 polymorphisms in Hürthle thyroid cancer patients

scientific article published on 20 January 2006

Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies

scientific article

Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report

scientific article published on 12 September 2018

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

scientific article

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

scientific article

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations

scientific article

Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis

article

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

scientific article

Molecular features of thyroid oncocytic tumors

scientific article published on 23 February 2010

Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer

scientific article published on 07 May 2018

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

scientific article

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

scientific article

Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas

scientific article published on 31 October 2006

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

scientific article published on 9 May 2013

Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?

scientific article

Preparation of highly purified momordin II without ribonuclease activity.

scientific article

Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon

scientific article published on 29 July 2016

Prucalopride exerts neuroprotection in human enteric neurons

scientific article published on 18 February 2016

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

scientific article

TOM: a web-based integrated approach for identification of candidate disease genes

scientific article published on July 2006

TOM: enhancement and extension of a tool suite for in silico approaches to multigenic hereditary disorders

scientific article published on 29 November 2007

The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma

scientific article published on 31 October 2013

The RET51/FKBP52 complex and its involvement in Parkinson disease

scientific article

The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability

scientific article

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