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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

Endocrine, 2023-02, Vol.79 (2), p.292-295

2023

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A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.447-454

2021

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Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder

Cytogenetic and genome research, 2018-01, Vol.154 (4), p.196-200

2018

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A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1612-n/a

2021

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Histone post-translational modifications associated to BAALC expression in leukemic cells

Biochemical and biophysical research communications, 2012-01, Vol.417 (2), p.721-725

2012

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Down-regulation of SM22/transgelin gene expression during H9c2 cells differentiation

Molecular and cellular biochemistry, 2009-07, Vol.327 (1-2), p.145-152

2009

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Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Molecular and cellular probes, 2010-10, Vol.24 (5), p.310-314

2010

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Dystonic tremor and blepharospasm in a patient with deletion of 18q

Clinical neurology and neurosurgery, 2023-01, Vol.224, p.107549, Article 107549

2023

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A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Journal of human genetics, 2024-06, Vol.69 (6), p.271-282

2024

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CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers

European journal of medical genetics, 2020-04, Vol.63 (4), p.103843, Article 103843

2020

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NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome

Clinical genetics, 2021-07, Vol.100 (1), p.114-116

2021

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Quantitative PCR evaluation of deletions/duplications identified by array CGH

Molecular and cellular probes, 2019-08, Vol.46, p.101421-101421, Article 101421

2019

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NKX2 .1 run‐on mutation associated to familial brain–lung–thyroid syndrome

Clinical genetics, 2021-07, Vol.100 (1), p.114-116

2021

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Levels of histone acetylation in thyroid tumors

Biochemical and biophysical research communications, 2011-08, Vol.411 (4), p.679-683

2011

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Expression of Dicer and Drosha in triple-negative breast cancer

Journal of clinical pathology, 2012-04, Vol.65 (4), p.320-326

2012

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Somatic amplifications and deletions in genome of papillary thyroid carcinomas

Endocrine, 2015-11, Vol.50 (2), p.453-464

2015

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The PARP inhibitor PJ34 modifies proliferation, NIS expression and epigenetic marks in thyroid cancer cell lines

Molecular and cellular endocrinology, 2013-01, Vol.365 (1), p.1-10

2013

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Evaluation of somatic genomic imbalances in thyroid carcinomas of follicular origin by CGH-based approaches

Minerva endocrinologica, 2018-09, Vol.43 (3), p.285

2018

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Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings

Cytogenetic and genome research, 2016-01, Vol.148 (1), p.14-18

2016

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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

Molecular syndromology, 2017-03, Vol.8 (2), p.98-102

2017

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Histone deacetylase inhibitors control the transcription and alternative splicing of prohibitin in thyroid tumor cells

Oncology reports, 2011-02, Vol.25 (2), p.393-397

2011

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Cooperative effects of SAHA and VPA on NIS gene expression and proliferation of thyroid cancer cells

Journal of molecular endocrinology, 2012-06, Vol.48 (3), p.217-227

2012

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A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma

Clinical endocrinology (Oxford), 2013-03, Vol.78 (3), p.391-397

2013

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Cyclic AMP-response element modulator inhibits the promoter activity of the sodium iodide symporter gene in thyroid cancer cells

Thyroid (New York, N.Y.), 2012-05, Vol.22 (5), p.487

2012

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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype

Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

Histone post-translational modifications associated to BAALC expression in leukemic cells

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

Down-regulation of SM22/transgelin gene expression during H9c2 cells differentiation

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Dystonic tremor and blepharospasm in a patient with deletion of 18q

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers

NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome

Quantitative PCR evaluation of deletions/duplications identified by array CGH

NKX2 .1 run‐on mutation associated to familial brain–lung–thyroid syndrome

Levels of histone acetylation in thyroid tumors

Expression of Dicer and Drosha in triple-negative breast cancer

Somatic amplifications and deletions in genome of papillary thyroid carcinomas

The PARP inhibitor PJ34 modifies proliferation, NIS expression and epigenetic marks in thyroid cancer cell lines

Evaluation of somatic genomic imbalances in thyroid carcinomas of follicular origin by CGH-based approaches

Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings

Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

Histone deacetylase inhibitors control the transcription and alternative splicing of prohibitin in thyroid tumor cells

Cooperative effects of SAHA and VPA on NIS gene expression and proliferation of thyroid cancer cells

A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma

Cyclic AMP-response element modulator inhibits the promoter activity of the sodium iodide symporter gene in thyroid cancer cells

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