Lista de obras - Daniela Turchetti - Dominio Público Uruguay

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

article

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

artículo científico publicado en 2014

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

artículo científico publicado en 2014

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

artículo científico publicado en 2012

A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age.

artículo científico publicado en 2013

A systematic review of interventions to provide genetics education for primary care

scientific article published on 22 July 2016

An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer

artículo científico publicado en 2004

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

artículo científico publicado en 2016

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

artículo científico publicado en 2015

BRCA-associated ovarian cancer: from molecular genetics to risk management

artículo científico publicado en 2014

BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer

artículo científico publicado en 2000

Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience.

artículo científico publicado en 2006

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Changes in breast cancer incidence and stage distribution in Modena, Italy: the effect of a mammographic screening program

artículo científico publicado en 2002

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.

artículo científico publicado en 2012

Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171)

scientific article published on 03 May 2005

Communication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?

artículo científico publicado en 2013

Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

scientific article published on 23 September 2020

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

artículo científico publicado en 2015

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

article

Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer

artículo científico publicado en 2010

Genetic counseling: a survey to explore knowledge and attitudes of Italian nurses and midwives

artículo científico publicado en 2012

Identification of families with hereditary breast and ovarian cancer for clinical and mammographic surveillance: the Modena Study Group proposal

artículo científico publicado en 1999

Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy

artículo científico publicado en 2015

Impact of presymptomatic genetic testing on young adults: a systematic review

artículo científico publicado en 2015

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

scientific article published on 14 September 2020

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes

scientific article published on 01 March 2003

Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses

artículo científico publicado en 2012

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

artículo científico publicado en 2014

Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement of MITF, PTEN and CDKN2A in multiple cancerogenesis?

artículo científico publicado en 2013

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

artículo científico publicado en 2009

Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results

artículo científico publicado en 2011

Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review

artículo científico publicado en 2022

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics

artículo científico publicado en 2013

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

article

Primary malignant ectomesenchymoma of the kidney

artículo científico publicado en 2002

Problems related to counseling in genetic thrombophilias

artículo científico publicado en 2002

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome

artículo científico publicado en 2006

T([20]) repeat in the 3'-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer.

artículo científico publicado en 2011

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

artículo científico publicado en 2011

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

artículo científico publicado en 2013

miR-155 is Down-regulated in Familial Adenomatous Polyposis and Modulates Wnt Signaling by Targeting AXIN1 and TCF4

artículo científico publicado en 2018

Lista de obras de Daniela Turchetti

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

A systematic review of factors influencing uptake of invasive fetal genetic testing by pregnant women of advanced maternal age.

A systematic review of interventions to provide genetics education for primary care

An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

BRCA-associated ovarian cancer: from molecular genetics to risk management

BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer

Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience.

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

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

Changes in breast cancer incidence and stage distribution in Modena, Italy: the effect of a mammographic screening program

Clinical genetic testing for familial melanoma in Italy: A cooperative study

Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.

Comment on 'Cancer genetic counselling' by P. Mandich et al. (Ann Oncol 2005; 16: 171)

Communication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?

Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer

Genetic counseling: a survey to explore knowledge and attitudes of Italian nurses and midwives

Identification of families with hereditary breast and ovarian cancer for clinical and mammographic surveillance: the Modena Study Group proposal

Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy

Impact of presymptomatic genetic testing on young adults: a systematic review

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes

Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

Malignant and benign tumors associated with multiple primary melanomas: just the starting block for the involvement of MITF, PTEN and CDKN2A in multiple cancerogenesis?

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results

Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

Primary malignant ectomesenchymoma of the kidney

Problems related to counseling in genetic thrombophilias

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome

T([20]) repeat in the 3'-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer.

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

miR-155 is Down-regulated in Familial Adenomatous Polyposis and Modulates Wnt Signaling by Targeting AXIN1 and TCF4