Lista de obras - Diego Vozzi - Dominio Público Uruguay

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

artículo científico publicado en 2013

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

artículo científico publicado en 2013

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

artículo científico publicado en 2015

Consanguinity and hereditary hearing loss in Qatar

artículo científico publicado en 2014

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Effect of materials for micro-electro-mechanical systems on PCR yield

scientific article published on 20 May 2009

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

artículo científico publicado en 2014

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

artículo científico publicado en 2014

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

artículo científico publicado en 2015

Genome-wide association study identifies 74 loci associated with educational attainment

artículo científico publicado en 2016

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

artículo científico publicado en 2014

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

artículo científico publicado en 2015

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

artículo científico publicado en 2013

Mevalonate kinase deficiency and IBD: shared genetic background.

artículo científico publicado en 2014

Microarray and Large-Scale In Silico–Based Identification of Genes Functionally Related to Haptoglobin and/or Hemopexin

article

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

artículo científico publicado en 2012

Molecular epidemiology of Usher syndrome in Italy ⬇️

artículo científico publicado el 22 de junio de 2011

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

artículo científico publicado en 2013

One-shot genetic analysis in monolithic Silicon/Pyrex microdevices.

artículo científico publicado en 2012

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

artículo científico publicado en 2015

Putative modifier genes in mevalonate kinase deficiency.

artículo científico publicado en 2016

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

artículo científico publicado en 2014

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Lista de obras de Diego Vozzi

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Consanguinity and hereditary hearing loss in Qatar

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Directional dominance on stature and cognition in diverse human populations

Effect of materials for micro-electro-mechanical systems on PCR yield

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Genome-wide association study identifies 74 loci associated with educational attainment

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

Mevalonate kinase deficiency and IBD: shared genetic background.

Microarray and Large-Scale In Silico–Based Identification of Genes Functionally Related to Haptoglobin and/or Hemopexin

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Molecular epidemiology of Usher syndrome in Italy ⬇️

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

One-shot genetic analysis in monolithic Silicon/Pyrex microdevices.

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Putative modifier genes in mevalonate kinase deficiency.

Rare and low-frequency coding variants alter human adult height

Rare coding variants and X-linked loci associated with age at menarche

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

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