about
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis.The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene.S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing.CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsAnalysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patientsCopy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Mapping and phasing of structural variation in patient genomes using nanopore sequencing.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.Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.A new CARD15 mutation in Blau syndrome.Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol.Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestationsUnbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of casesp53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastomaUsefulness of exercise test in the diagnosis of short QT syndromeWorkload measurement for molecular genetics laboratory: A survey studyBClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's diseaseUpdated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluriaMutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutationsModeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patientsStage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracilPTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocolCerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Daniela Giachino
@ast
Daniela Giachino
@en
Daniela Giachino
@es
Daniela Giachino
@nl
type
label
Daniela Giachino
@ast
Daniela Giachino
@en
Daniela Giachino
@es
Daniela Giachino
@nl
prefLabel
Daniela Giachino
@ast
Daniela Giachino
@en
Daniela Giachino
@es
Daniela Giachino
@nl
P106
P21
P31
P496
0000-0002-3186-6726