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Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

Clinical genetics, 2015-06, Vol.87 (6), p.507-516

2015

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Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients

The Journal of asthma, 2022-01, Vol.59 (1), p.23-30

2022

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Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study

Journal of endocrinological investigation, 2021-12, Vol.44 (12), p.2635-2643

2021

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Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa

British journal of dermatology (1951), 2015-09, Vol.173 (3), p.731-738

2015

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Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes

International journal of immunogenetics, 2018-02, Vol.45 (1), p.22-25

2018

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A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Reumatismo, 2019-07, Vol.71 (2), p.85-87

2019

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Cortical malformations and COL4A1 mutation: Three new cases

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.410-417

2019

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Expression and Significance of MicroRNA-183 in Hepatocellular Carcinoma

TheScientificWorld, 2013-01, Vol.2013 (2013), p.1-6

2013

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A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Acta otorhino-laryngologica italica, 2017-08, Vol.37 (4), p.308-311

2017

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Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

Familial cancer, 2014-12, Vol.13 (4), p.553-561

2014

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ItaLynch: an ongoing Italian study to evaluate the feasibility of mainstreaming the diagnosis of Lynch syndrome in colorectal cancer patients

ESMO Gastrointestinal Oncology, 2024-03, Vol.3, p.100044, Article 100044

2024

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Supernumerary Teeth: Review of the Literature with Recent Updates

Conference Papers in Science, 2014, Vol.2014, p.1-6

2014

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Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe

Molecular human reproduction, 2006-09, Vol.12 (9), p.587-591

2006

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The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

Clinical genetics, 2007-11, Vol.72 (5), p.490-491

2007

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Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

Journal of clinical oncology, 2001-10, Vol.19 (19), p.3944-3950

2001

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Clinical Implications of Girdin Protein Expression in Glioma

TheScientificWorld, 2013-01, Vol.2013 (2013), p.1-6

2013

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations

Frontiers in immunology, 2017-04, Vol.8, p.344-344

2017

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Recurrent germline mutation in MSH2 arises frequently de novo

Journal of medical genetics, 2000-09, Vol.37 (9), p.646-652

2000

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Pathogenesis of colorectal cancer

Digestive and Liver Disease, 2000-12, Vol.32 (9), p.807-821

2000

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The I1307K polymorphism of the APC gene in colorectal cancer

Gastroenterology (New York, N.Y. 1943), 1999, Vol.116 (1), p.58-63

1999

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Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases

Prenatal diagnosis, 2002-10, Vol.22 (10), p.919-924

2002

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Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis

Gut, 1999-07, Vol.45 (1), p.32-38

1999

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SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

Journal of medical genetics, 2002-06, Vol.39 (6), p.e33-33

2002

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A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Acta otorhino-laryngologica italica, 2017-08, Vol.37 (4), p.308-311

2017

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Rectal epithelial cell proliferation patterns as predictors of adenomatous colorectal polyp recurrence

Gut, 1993-04, Vol.34 (4), p.525-530

1993

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Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients

Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes

A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Cortical malformations and COL4A1 mutation: Three new cases

Expression and Significance of MicroRNA-183 in Hepatocellular Carcinoma

A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

ItaLynch: an ongoing Italian study to evaluate the feasibility of mainstreaming the diagnosis of Lynch syndrome in colorectal cancer patients

Supernumerary Teeth: Review of the Literature with Recent Updates

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe

The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

Clinical Implications of Girdin Protein Expression in Glioma

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations

Recurrent germline mutation in MSH2 arises frequently de novo

Pathogenesis of colorectal cancer

The I1307K polymorphism of the APC gene in colorectal cancer

Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases

Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Rectal epithelial cell proliferation patterns as predictors of adenomatous colorectal polyp recurrence

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