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List of works by Alessandro Stella

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

scientific article

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage

scientific article published on 30 June 2014

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

scientific article

APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase.

scientific article

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

scientific article published on 17 April 2018

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

scientific article published on 19 December 2004

Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome

scientific article published on 08 March 2011

Anticipation in Lynch Syndrome: Where We Are Where We Go ⬇️

scientific article published on November 1, 2011

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

scientific article

Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family.

scientific article published on July 1990

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

scientific article published on 15 February 2013

Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply

scientific article published on 01 April 2020

Comparison of clinical and demographic features between affected pairs of Italian multiple sclerosis multiplex families; relation to tumour necrosis factor genomic polymorphisms.

scientific article published in January 1999

Depressed level of natural killer cells in cancer family syndrome

scientific article published on 01 January 1989

Establishment and characterization of a highly immunogenic human renal carcinoma cell line

scientific article

Familial Mediterranean fever: breaking all the (genetic) rules

scientific article published on 01 March 2019

Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family

scientific article published on 01 May 1992

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

scientific article published on February 2003

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

scientific article published on 07 October 2019

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

scientific article published in February 2007

Gut Microbiota between Environment and Genetic Background in Familial Mediterranean Fever (FMF)

scientific article published on 03 September 2020

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

article

Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever

scientific article published on 01 April 2020

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

scientific article

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification

scientific article published on 22 January 2020

Infertility in carriers of two bisatellited marker chromosomes

scientific article published on 01 August 1993

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

scientific article

Linkage studies in Italian families with familial adenomatous polyposis.

scientific article

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.

scientific article

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

scientific article published on 27 April 2015

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

scientific article

Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?

scientific article published on 16 February 2020

Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.

scientific article

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

scientific article published on 30 August 2011

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.

scientific article published in October 2012

The familial adenomatous polyposis region exhibits many different haplotypes

scientific article published on 01 June 1998

The grandfather's fever

scientific article published on 10 August 2019

The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells ⬇️

scientific article published on December 12, 2012

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

scientific article

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