List of works - Vincent Morinière

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

scientific article published on 2 July 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

scientific article

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

scientific article

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

scientific article published on January 2008

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

scientific article

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

scientific article

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

scientific article published in January 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.

scientific article

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

scientific article published on 09 December 2013

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

scientific article

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

scientific article

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

scientific article

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

scientific article published on 21 December 2016

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

scientific article published on 13 April 2011

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

scientific article published on 26 March 2014

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

scientific article published on 28 March 2013

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

scientific article

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

scientific article

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

scientific article published on 31 May 2017

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

scientific article published on 31 January 2012

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

scientific article published on 22 May 2009

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

scientific article published on 8 June 2010

List of works by 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?