Lista de obras - Alessandro Stella - Dominio Público Uruguay

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

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

artículo científico publicado en 2010

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

artículo científico publicado en 1990

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

artículo científico publicado en 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.

artículo científico publicado en 1999

Depressed level of natural killer cells in cancer family syndrome

artículo científico publicado en 1989

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

artículo científico publicado en 2016

Familial Mediterranean fever: breaking all the (genetic) rules

artículo científico publicado en 2019

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

artículo científico publicado en 1992

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

artículo científico publicado en 2003

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2006

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

artículo científico publicado en 1993

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

artículo científico publicado en 1998

Linkage studies in Italian families with familial adenomatous polyposis.

artículo científico publicado en 1993

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2007

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2012

The familial adenomatous polyposis region exhibits many different haplotypes

artículo científico publicado en 1998

The grandfather's fever

artículo científico publicado en 2019

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

artículo científico publicado en 2002

Lista de obras de Alessandro Stella

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

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

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

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

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

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

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

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

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

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

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

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

Depressed level of natural killer cells in cancer family syndrome

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

Familial Mediterranean fever: breaking all the (genetic) rules

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

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

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

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

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

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

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

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

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

Infertility in carriers of two bisatellited marker chromosomes

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

Linkage studies in Italian families with familial adenomatous polyposis.

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

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.

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

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

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

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

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

The familial adenomatous polyposis region exhibits many different haplotypes

The grandfather's fever

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