Lista de obras - Vincent Morinière - Dominio Público Uruguay

Absence of cell surface expression of human ACE leads to perinatal death

scientific article published on 24 October 2013

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

artículo científico publicado en 2015

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

artículo científico publicado en 2007

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

artículo científico publicado en 2014

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping

artículo científico publicado en 2008

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

artículo científico publicado en 2011

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

artículo científico publicado en 2009

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

article

Mutations in renin-angiotensin system genes and kidney developmental anomalies

artículo científico publicado en 2009

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

article

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence

artículo científico publicado en 2004

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

artículo científico publicado en 2013

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

artículo científico publicado en 2006

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

artículo científico publicado en 2011

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

artículo científico publicado en 2006

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

artículo científico publicado en 2016

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

artículo científico publicado en 2011

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

artículo científico publicado en 2014

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

artículo científico publicado en 2013

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

artículo científico publicado en 2010

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

artículo científico publicado en 2017

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

artículo científico publicado en 2012

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

artículo científico publicado en 2009

What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

artículo científico publicado en 2010

Lista de obras de Vincent Morinière

Absence of cell surface expression of human ACE leads to perinatal death

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Mutations in renin-angiotensin system genes and kidney developmental anomalies

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

What is the risk that I will transmit nephrotic syndrome to my children, Doctor?