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List of works by Daniela Turchetti

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.

scientific article published on 19 February 2014

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

scientific article

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

scientific article published on 01 March 2012

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

scientific article

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

scientific article published on 01 May 2004

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

scientific article

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

scientific article published on 27 May 2015

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

scientific article

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

scientific article published on 01 October 2000

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

scientific article

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

scientific article

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

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

scientific article published on 01 October 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.

scientific article published on 22 April 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?

scientific article published on 07 October 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

scientific article published in August 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

scientific article

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

scientific article published on 19 October 2012

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

scientific article published on 01 June 1999

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

scientific article published on 10 September 2015

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

scientific article published on 15 July 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

scientific article

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

scientific article

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

scientific article published on 27 June 2013

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

scientific article

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

scientific article published in February 2011

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

scientific article published in 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

scientific article published on 5 September 2013

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

article

Primary malignant ectomesenchymoma of the kidney.

scientific article published in October 2002

Problems related to counseling in genetic thrombophilias

scientific article

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

scientific article published in December 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.

scientific article

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

scientific article published on 16 September 2011

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

scientific article published on 6 February 2013

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

scientific article published on 02 August 2018

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