Lista de obras - Daniela Giachino - Dominio Público Uruguay

A new CARD15 mutation in Blau syndrome

artículo científico publicado en 2005

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

artículo científico publicado en 2014

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.

artículo científico publicado en 2016

Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients

article

Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis.

artículo científico publicado en 2014

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

artículo científico publicado en 2009

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease

article

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

artículo científico publicado en 2006

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

artículo científico publicado en 2005

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

artículo científico publicado en 2002

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

artículo científico publicado en 2014

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

scientific article published on 01 April 2011

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

artículo científico publicado en 2017

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

artículo científico publicado en 2017

Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing.

artículo científico publicado en 2013

Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

scientific article published on 06 November 2019

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

artículo científico publicado en 2015

Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.

artículo científico publicado en 2011

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

artículo científico publicado en 2017

Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

artículo científico publicado en 2006

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

artículo científico publicado en 2011

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

artículo científico publicado en 2018

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol

artículo científico publicado en 2013

Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child

artículo científico publicado en 2017

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

artículo científico publicado en 2009

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

artículo científico publicado en 2008

Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.

artículo científico publicado en 2007

RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact.

artículo científico publicado en 2009

Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol.

artículo científico publicado en 2014

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

artículo científico publicado en 2014

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

artículo científico publicado en 2014

Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil

artículo científico publicado en 2006

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene

artículo científico publicado en 2015

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

article

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

article

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

artículo científico publicado en 2012

Usefulness of exercise test in the diagnosis of short QT syndrome

artículo científico publicado en 2015

Workload measurement for molecular genetics laboratory: A survey study

scientific article published in PLoS ONE

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

scientific article published on 04 August 2011

Lista de obras de Daniela Giachino

A new CARD15 mutation in Blau syndrome

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.

Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients

Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis.

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing.

Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol

Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.

RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact.

Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol.

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

Usefulness of exercise test in the diagnosis of short QT syndrome

Workload measurement for molecular genetics laboratory: A survey study

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma