Lista de obras -

A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder

scientific article published on 06 June 2020

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndrome

scientific article published on 24 December 2020

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene

scientific article published on 30 April 2020

Array CGH analysis of a cohort of Russian patients with intellectual disability.

artículo científico publicado en 2013

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

artículo científico publicado en 2009

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

scientific article published on 17 August 2018

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

scientific article published on 11 May 2019

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

artículo científico publicado en 2020

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

artículo científico publicado en 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

artículo científico publicado en 2019

Genetics of human enteric neuropathies.

artículo científico

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

article

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype

scientific article published on 26 March 2018

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis

scientific article published on 20 August 2020

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

scientific article published on 22 October 2020

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

artículo científico publicado en 2015

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

artículo científico publicado en 2019

Novel Mutations and Unreported Clinical Features in KBG Syndrome

scientific article published on 15 January 2019

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

artículo científico publicado en 2014

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

scientific article published on 26 April 2019

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

scientific article published in 2023

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

artículo científico publicado en 2021

Unbalanced translocations involving chromosome region 10q25.3q26.3 in patients with intellectual disability and complex phenotypes

artículo científico publicado en 2014

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

artículo científico publicado en 2016

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

artículo científico publicado en 2015

Lista de obras de

A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

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

Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndrome

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene

Array CGH analysis of a cohort of Russian patients with intellectual disability.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Genetics of human enteric neuropathies.

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

Unbalanced translocations involving chromosome region 10q25.3q26.3 in patients with intellectual disability and complex phenotypes

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis