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Expanding the mutational spectrum of LZTR1 in schwannomatosis

European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.963-968

2015

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Breast cancer: the first comparative evaluation of oncobiome composition between males and females

Biology of sex differences, 2023-06, Vol.14 (1), p.37-37, Article 37

2023

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Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.405-416

2013

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

PloS one, 2015-06, Vol.10 (6), p.e0129099-e0129099

2015

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Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Familial cancer, 2016-01, Vol.15 (1), p.123-126

2016

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Characterization of an Italian founder mutation in the RING-finger domain of BRCA1

PloS one, 2014-02, Vol.9 (2), p.e86924-e86924

2014

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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Cancers, 2020-01, Vol.12 (2), p.292

2020

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Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations

The Journal of molecular diagnostics : JMD, 2014-07, Vol.16 (4), p.393-399

2014

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Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis

Human pathology, 2015-08, Vol.46 (8), p.1226-1231

2015

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Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner

Scandinavian journal of gastroenterology, 2008, Vol.43 (6), p.712-718

2008

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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Nature (London), 1993-06, Vol.363 (6428), p.458-460

1993

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513

2021

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Do we need fasting before coronary angiography? The CORO-NF randomized pragmatic study

The American journal of medicine, 2024-02

2024

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Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

Human mutation, 2008-02, Vol.29 (2), p.227-231

2008

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Premature ovarian failure and fragile X premutation: a study on 45 women

European journal of obstetrics & gynecology and reproductive biology, 2004-02, Vol.112 (2), p.189-191

2004

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MSI analysis in patients with GIST with lynch syndrome

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.e23510-e23510

2023

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A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases

Journal of the American Society of Nephrology, 2023-04, Vol.34 (4), p.706-720

2023

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Genetics in medicine, 2020-10, Vol.22 (10), p.1653-1666

2020

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Nature genetics, 2015-02, Vol.47 (2), p.164-171

2015

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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Nature genetics, 2011-03, Vol.43 (3), p.246-52

2011

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LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL

Cancer discovery, 2023-03, Vol.13 (3), p.702-723

2023

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ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.812-817

2022

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Central, Eastern, and Southeastern European Countries’ Convergence: A Look at the Past and Considerations for the Future

Comparative economic studies, 2018-06, Vol.60 (2), p.271-290

2018

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Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

Journal of neuro-oncology, 2018-03, Vol.137 (1), p.33-38

2018

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Breast cancer: the first comparative evaluation of oncobiome composition between males and females

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Do we need fasting before coronary angiography? The CORO-NF randomized pragmatic study

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

Premature ovarian failure and fragile X premutation: a study on 45 women

MSI analysis in patients with GIST with lynch syndrome

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

Central, Eastern, and Southeastern European Countries’ Convergence: A Look at the Past and Considerations for the Future

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

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