Lista de obras - Daniela Iancu - Dominio Público Uruguay

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

artículo científico publicado en 2016

Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review

artículo científico publicado en 2020

Challenging DNA samples solved with MiniSTR analysis. Brief overview

Clinical and diagnostic features of Bartter and Gitelman syndromes.

artículo científico publicado en 2017

Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration.

artículo científico publicado en 2015

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

artículo científico publicado en 2016

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families

article

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

artículo científico publicado en 2016

Erratum: Long-term outcome in inherited nephrogenic diabetes insipidus

artículo científico publicado en 2020

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

artículo científico publicado en 2016

Genetics of renovascular hypertension in children

artículo científico publicado en 2020

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

artículo científico publicado en 2018

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

scientific article published on 16 September 2019

Inflammatory gene expression profiles in Crohn's disease and ulcerative colitis: a comparative analysis using a reverse transcriptase multiplex ligation-dependent probe amplification protocol

artículo científico publicado en 2012

Long-term outcome in inherited nephrogenic diabetes insipidus

artículo científico publicado en 2018

Management of children with congenital nephrotic syndrome: challenging treatment paradigms

artículo científico publicado en 2019

Molecular signatures of cardiac stem cells

artículo científico publicado en 2015

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

artículo científico publicado en 2017

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

artículo científico publicado en 2018

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis

artículo científico publicado en 2012

Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report

scientific article published on 07 September 2018

Treatment and long-term outcome in primary distal renal tubular acidosis

scientific article published on 01 June 2019

Lista de obras de Daniela Iancu

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review

Challenging DNA samples solved with MiniSTR analysis. Brief overview

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration.

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

Erratum: Long-term outcome in inherited nephrogenic diabetes insipidus

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Genetics of renovascular hypertension in children

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Inflammatory gene expression profiles in Crohn's disease and ulcerative colitis: a comparative analysis using a reverse transcriptase multiplex ligation-dependent probe amplification protocol

Long-term outcome in inherited nephrogenic diabetes insipidus

Management of children with congenital nephrotic syndrome: challenging treatment paradigms

Molecular signatures of cardiac stem cells

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis

Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report

Treatment and long-term outcome in primary distal renal tubular acidosis