List of works - Felix Claverie-Martin

A PCR assay for rapid detection of vancomycin-resistant enterococci

scientific article

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

scientific article published on 30 January 2007

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting

scientific article

Analysis of the regulatory region of the protease III (ptr) gene of Escherichia coli K-12.

scientific article published in January 1987

Characterization of the first VanB vancomycin-resistant Enterococcus faecium isolated in a Spanish hospital

scientific article published in March 2004

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

article

Chloride and sodium renal tubular handling in Dent's disease

scientific article published on 24 May 2005

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

scientific article

DNA bending and the initiation of transcription at sigma54-dependent bacterial promoters

scientific article published on September 1997

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

scientific article published on 29 August 2003

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

scientific article published on 4 June 2014

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene

scientific article

Dent’s disease: clinical features and molecular basis ⬇️

scientific article published on October 10, 2010

Detection of Staphylococcus aureus Clinical Isolates Harboring the ica Gene Cluster Needed for Biofilm Establishment.

scientific article published on April 2002

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

article published in 2019

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

scientific article published on September 2015

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

scientific article published on 20 November 2014

Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

scientific article published on 28 January 2019

Low prevalence of vancomycin-resistant enterococci in clinical samples from hospitalized patients of the Canary Islands, Spain

scientific article

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands

scientific article published in August 2008

Molecular cloning and expression in yeast of caprine prochymosin

scientific article published on October 2004

Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1)

scientific journal article

Multiplex PCR for simultaneous detection of enterococcal genes vanA and vanB and staphylococcal genes mecA, ileS-2 and femB.

scientific article

Mupirocin resistance in methicillin-resistant Staphylococcus aureus clinical isolates in a Spanish hospital. Co-application of multiplex PCR assay and conventional microbiology methods

scientific article published in June 2002

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

scientific article

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

scientific article published on 01 September 2020

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

scientific article published on 01 February 2019

Phosphorylation of nitrogen regulator I of Escherichia coli induces strong cooperative binding to DNA essential for activation of transcription ⬇️

scientific article published on June 1, 1992

Positive and negative effects of DNA bending on activation of transcription from a distant site

scientific article published on October 1992

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

scientific article published on 7 February 2013

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene

scientific article published on 01 May 2014

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

scientific article published on 4 January 2018

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

scientific article published on January 2015

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

scientific article

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

scientific article

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

scientific article published on 25 July 2008

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

scientific article published on 9 December 2015

Transcript mapping using [35S]DNA probes, trichloroacetate solvent and dideoxy sequencing ladders: a rapid method for identification of transcriptional start points.

scientific article

Tumor necrosis factor-alpha gene expression in diabetic nephropathy: relationship with urinary albumin excretion and effect of angiotensin-converting enzyme inhibition.

scientific article

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.

scientific article published on 24 February 2018

Urolithiasis, idiopathic hypercalciuria and insularity

scientific article published on 24 May 2006

[Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history]

scientific article published on 01 January 2014

List of works by Felix Claverie-Martin

A PCR assay for rapid detection of vancomycin-resistant enterococci

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting

Analysis of the regulatory region of the protease III (ptr) gene of Escherichia coli K-12.

Characterization of the first VanB vancomycin-resistant Enterococcus faecium isolated in a Spanish hospital

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Chloride and sodium renal tubular handling in Dent's disease

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

DNA bending and the initiation of transcription at sigma54-dependent bacterial promoters

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene

Dent’s disease: clinical features and molecular basis ⬇️

Detection of Staphylococcus aureus Clinical Isolates Harboring the ica Gene Cluster Needed for Biofilm Establishment.

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

Low prevalence of vancomycin-resistant enterococci in clinical samples from hospitalized patients of the Canary Islands, Spain

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands

Molecular cloning and expression in yeast of caprine prochymosin

Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1)

Multiplex PCR for simultaneous detection of enterococcal genes vanA and vanB and staphylococcal genes mecA, ileS-2 and femB.

Mupirocin resistance in methicillin-resistant Staphylococcus aureus clinical isolates in a Spanish hospital. Co-application of multiplex PCR assay and conventional microbiology methods

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

Phosphorylation of nitrogen regulator I of Escherichia coli induces strong cooperative binding to DNA essential for activation of transcription ⬇️

Positive and negative effects of DNA bending on activation of transcription from a distant site

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Transcript mapping using [35S]DNA probes, trichloroacetate solvent and dideoxy sequencing ladders: a rapid method for identification of transcriptional start points.

Tumor necrosis factor-alpha gene expression in diabetic nephropathy: relationship with urinary albumin excretion and effect of angiotensin-converting enzyme inhibition.

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.

Urolithiasis, idiopathic hypercalciuria and insularity

[Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history]