Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M et al.
Plos Genetics, 2025
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Girón-Ortega M et al.
Ophthalmic Genetics, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report.
Bennati G et al.
Pharmaceuticals (basel, Switzerland), 2023
Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.
Vall-Palomar M et al.
Journal of Nephrology, 2021
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Vall-Palomar M et al.
Pediatric Nephrology (berlin, Germany), 2021
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
García-Castaño A et al.
Molecular Genetics & Genomic Medicine, 2020
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.
Seker M et al.
International Journal of Molecular Sciences, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Perdomo-Ramirez A et al.
Gene, 2019
Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.
Wang SB et al.
Communications Biology, 2019
[Michaelis-Manz syndrome. A case report].
Plaza-Ramos P et al.
Anales Del Sistema Sanitario De Navarra, 2018
Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods.
Vall-Palomar M et al.
Journal of Translational Medicine, 2018
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO et al.
Ophthalmic Genetics, 2018
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM et al.
Journal of Medical Genetics, 2017
Utility of optical coherence tomography in a case of bilateral congenital macular coloboma.
Muñoz de Escalona Rojas JE et al.
Indian Journal of Ophthalmology, 2016
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Claverie-Martin F
Clinical Kidney Journal, 2015
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Martin-Nuñez E et al.
World Journal of Pediatrics : Wjp, 2015
Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
Claverie-Martín F et al.
European Journal of Human Genetics : Ejhg, 2015
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Yuan T et al.
Calcified Tissue International, 2015
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry.
Arteaga ME et al.
Renal Failure, 2015
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO et al.
Pediatric Nephrology (berlin, Germany), 2013
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F et al.
Plos One, 2013
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
Faguer S et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.
Haisch L et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.
Naeem M et al.
American Journal of Nephrology, 2011
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
Kasapkara CS et al.
Genetic Counseling (geneva, Switzerland), 2011
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ et al.
Pediatric Nephrology (berlin, Germany), 2009
Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
Hou J et al.
The Journal of Clinical Investigation, 2008
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ et al.
Annals of the New York Academy of Sciences, 2007
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad M et al.
American Journal of Human Genetics, 2006
Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation.
Almeida JR et al.
Jornal Brasileiro De Nefrologia, 0
Outcome of primary tubular tubulopathies diagnosed in pediatric age.
Gómez CJB et al.
Nefrologia, 0
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM et al.
Nefrologia, 0
Familial hypomagnesemia with hipercalciuria and nephrocalcinosis associated with sensorineural hearing loss.
Burgos Martín J et al.
Nefrologia, 0