Lista de obras - Guglielmina N Ranzani - Dominio Público Uruguay

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

artículo científico publicado en 2017

A novel endonuclease of human cells specific for single-stranded DNA

artículo científico publicado en 1976

A study of several genetic biochemical markers in Sherpas with description of some variant phenotypes

artículo científico publicado en 1976

A study of ten red cell enzymatic markers in the Naples' population. Report of a new GPT variant phenotype

artículo científico publicado en 1982

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

artículo científico publicado en 2003

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

artículo científico publicado en 2015

Absence of microsatellite instability in breast carcinomas with both p53 and c-erbB-2 alterations

artículo científico publicado en 1999

An Analysis of Red Cell Enzymatic Markers in the Province of Bologna (Italy) ⬇️

artículo científico publicado el 1 de enero de 1977

Analysis and clinical implications of K-ras gene mutations and infection with human papillomavirus types 16 and 18 in primary adenocarcinoma of the uterine cervix

artículo científico publicado en 1995

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

artículo científico publicado en 2016

Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.

artículo científico publicado en 2014

Cytokine gene polymorphisms in gastric cancer patients from two Italian areas at high and low cancer prevalence

artículo científico

DNA amplification in human gastric carcinomas

scientific article published on 01 February 1993

DNA sequences amplified in cancer cells: an interface between tumor biology and human genome analysis

artículo científico publicado en 1992

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR.

artículo científico publicado en 2018

Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma

artículo científico publicado en 2000

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

artículo científico publicado en 2017

Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer.

artículo científico publicado en 2016

Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations

scientific article published on 01 January 1985

Frameshift mutations of human gastrin receptor gene (hGARE) in gastrointestinal cancers with microsatellite instability

artículo científico publicado en 2002

Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

artículo científico publicado en 2010

Gene amplification and proliferative kinetics in relation to prognosis of patients with gastric carcinoma

artículo científico publicado en 1997

Genetic pattern, histological structure, and cellular phenotype in early and advanced gastric cancers: evidence for structure-related genetic subsets and for loss of glandular structure during progression of some tumors.

artículo científico publicado en 1998

Genetics of colorectal polyps.

artículo científico publicado en 2004

Hereditary diffuse gastric cancer in two families: A case report.

artículo científico publicado en 2017

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis

artículo científico publicado en 2007

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis

artículo científico publicado en 2004

Human Genetic Variability Contributes to Postoperative Morphine Consumption

artículo científico publicado en 2016

Inheritance of rDNA spacer length variants in man.

artículo científico publicado en 1984

Loss of heterozygosity and K-ras gene mutations in gastric cancer

scientific article published on 01 October 1993

Loss of heterozygosity at 18q21 region in gastric cancer involves a number of cancer-related genes and correlates with stage and histology, but lacks independent prognostic value

article

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

artículo científico publicado en 2010

MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

artículo científico publicado en 2012

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

artículo científico publicado en 1997

Microsatellite instability and mutations of p53 and TGF-beta RII genes in gastric cancer.

artículo científico publicado en 1996

Microsatellite instability in colorectal-cancer patients with suspected genetic predisposition

artículo científico publicado en 2000

Microsatellite instability in intestinal- and diffuse-type gastric carcinoma

scientific article published on 01 June 1997

Migration pattern and genetic marker distribution of the Afro-American population of Bluefields, Nicaragua.

artículo científico publicado en 1988

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

artículo científico publicado en 2019

Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes.

artículo científico publicado en 2013

Primary retroperitoneal mucinous cystoadenocarcinomas: an immunohistochemical and molecular study.

artículo científico publicado en 1994

Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors

artículo científico publicado en 2001

Red cell glyoxalase I polymorphism in Italians. Report of a variant phenotype

scientific article published on 01 January 1979

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

artículo científico publicado en 2018

Shifts of Faecal Microbiota During Sporadic Colorectal Carcinogenesis.

artículo científico publicado en 2018

Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype

artículo científico publicado en 2001

TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies.

artículo científico publicado en 2009

The Polymorphism of Red Cell Uridine Monophosphate Kinase in two Samples of the Italian Population ⬇️

artículo científico publicado el 1 de enero de 1977

The polymorphism of red cell esterase D in Italy

artículo científico publicado el 1 de enero de 1978

Understanding the role of the Q338H MUTYH variant in oxidative damage repair

artículo científico publicado en 2013

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

artículo científico publicado en 2017

Lista de obras de Guglielmina N Ranzani

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

A novel endonuclease of human cells specific for single-stranded DNA

A study of several genetic biochemical markers in Sherpas with description of some variant phenotypes

A study of ten red cell enzymatic markers in the Naples' population. Report of a new GPT variant phenotype

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

Absence of microsatellite instability in breast carcinomas with both p53 and c-erbB-2 alterations

An Analysis of Red Cell Enzymatic Markers in the Province of Bologna (Italy) ⬇️

Analysis and clinical implications of K-ras gene mutations and infection with human papillomavirus types 16 and 18 in primary adenocarcinoma of the uterine cervix

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.

Cytokine gene polymorphisms in gastric cancer patients from two Italian areas at high and low cancer prevalence

DNA amplification in human gastric carcinomas

DNA sequences amplified in cancer cells: an interface between tumor biology and human genome analysis

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR.

Detection of microsatellite alterations in the spectrum of melanocytic nevi in patients with or without individual or family history of melanoma

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer.

Electrophoretic subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in the Italian and Czechoslovakian populations

Frameshift mutations of human gastrin receptor gene (hGARE) in gastrointestinal cancers with microsatellite instability

Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

Gene amplification and proliferative kinetics in relation to prognosis of patients with gastric carcinoma

Genetic pattern, histological structure, and cellular phenotype in early and advanced gastric cancers: evidence for structure-related genetic subsets and for loss of glandular structure during progression of some tumors.

Genetics of colorectal polyps.

Hereditary diffuse gastric cancer in two families: A case report.

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis

Human Genetic Variability Contributes to Postoperative Morphine Consumption

Inheritance of rDNA spacer length variants in man.

Loss of heterozygosity and K-ras gene mutations in gastric cancer

Loss of heterozygosity at 18q21 region in gastric cancer involves a number of cancer-related genes and correlates with stage and histology, but lacks independent prognostic value

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

Microsatellite instability and mutations of p53 and TGF-beta RII genes in gastric cancer.

Microsatellite instability in colorectal-cancer patients with suspected genetic predisposition

Microsatellite instability in intestinal- and diffuse-type gastric carcinoma

Migration pattern and genetic marker distribution of the Afro-American population of Bluefields, Nicaragua.

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes.

Primary retroperitoneal mucinous cystoadenocarcinomas: an immunohistochemical and molecular study.

Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors

Red cell glyoxalase I polymorphism in Italians. Report of a variant phenotype

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Shifts of Faecal Microbiota During Sporadic Colorectal Carcinogenesis.

Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype

TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies.

The Polymorphism of Red Cell Uridine Monophosphate Kinase in two Samples of the Italian Population ⬇️

The polymorphism of red cell esterase D in Italy

Understanding the role of the Q338H MUTYH variant in oxidative damage repair

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing