Vall-Palomar M, Burballa C, Claverie-Martin F, Meseguer A, Ariceta G
J Nephrol. 2021; 34(6):2053-2062.
PMID: 33929692
DOI: 10.1007/s40620-021-01054-6.
Vall-Palomar M, Madariaga L, Ariceta G
Pediatr Nephrol. 2021; 36(10):3045-3055.
PMID: 33595712
DOI: 10.1007/s00467-021-04968-2.
Zhou F, Mao J, Ye Q, Zhu X, Zhang Y, Ye Y
Int J Clin Exp Pathol. 2020; 11(7):3523-3532.
PMID: 31949730
PMC: 6962865.
Hou J, Renigunta V, Nie M, Sunq A, Himmerkus N, Quintanova C
Proc Natl Acad Sci U S A. 2019; 116(38):19176-19186.
PMID: 31488724
PMC: 6754598.
DOI: 10.1073/pnas.1902042116.
Margabandhu S, Doshi M
Indian J Nephrol. 2019; 29(1):57-61.
PMID: 30814796
PMC: 6375017.
DOI: 10.4103/ijn.IJN_323_17.
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report.
Lu J, Zhao X, Paiardini A, Lang Y, Bottillo I, Shao L
BMC Nephrol. 2018; 19(1):181.
PMID: 30005619
PMC: 6045852.
DOI: 10.1186/s12882-018-0979-1.
Pediatric nephrolithiasis: a systematic approach from diagnosis to treatment.
Marra G, Taroni F, Berrettini A, Montanari E, Manzoni G, Montini G
J Nephrol. 2018; 32(2):199-210.
PMID: 29680873
DOI: 10.1007/s40620-018-0487-1.
Inherited and acquired disorders of magnesium homeostasis.
Wolf M
Curr Opin Pediatr. 2016; 29(2):187-198.
PMID: 27906866
PMC: 5572672.
DOI: 10.1097/MOP.0000000000000450.
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Claverie-Martin F
Clin Kidney J. 2015; 8(6):656-64.
PMID: 26613020
PMC: 4655790.
DOI: 10.1093/ckj/sfv081.
A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
Deeb A, Abood S, Simon J, Dastoor H, Pearce S, Sayer J
BMC Res Notes. 2013; 6:527.
PMID: 24321194
PMC: 3867415.
DOI: 10.1186/1756-0500-6-527.
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson V, Goldfarb D, Lieske J, Beara-Lasic L, Anglani F, Milliner D
Pediatr Nephrol. 2013; 28(10):1923-42.
PMID: 23334384
PMC: 4138059.
DOI: 10.1007/s00467-012-2329-z.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C
Clin J Am Soc Nephrol. 2012; 7(5):801-9.
PMID: 22422540
PMC: 3338284.
DOI: 10.2215/CJN.12841211.
Claudins in renal physiology and disease.
Li J, Ananthapanyasut W, Yu A
Pediatr Nephrol. 2011; 26(12):2133-42.
PMID: 21365189
PMC: 3203223.
DOI: 10.1007/s00467-011-1824-y.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
Al-Haggar M, Bakr A, Tajima T, Fujieda K, Hammad A, Soliman O
Clin Exp Nephrol. 2009; 13(4):288-294.
PMID: 19165416
DOI: 10.1007/s10157-008-0126-6.
Inherited forms of renal hypomagnesemia: an update.
Knoers N
Pediatr Nephrol. 2008; 24(4):697-705.
PMID: 18818955
PMC: 7811505.
DOI: 10.1007/s00467-008-0968-x.
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Konrad M, Hou J, Weber S, Dotsch J, Kari J, Seeman T
J Am Soc Nephrol. 2007; 19(1):171-81.
PMID: 18003771
PMC: 2391030.
DOI: 10.1681/ASN.2007060709.
Pathophysiology of hypercalciuria in children.
Srivastava T, Alon U
Pediatr Nephrol. 2007; 22(10):1659-73.
PMID: 17464515
PMC: 6904412.
DOI: 10.1007/s00467-007-0482-6.
A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.
Sanjad S, Hariri A, Habbal Z, Lifton R
Pediatr Nephrol. 2006; 22(4):503-8.
PMID: 17123117
DOI: 10.1007/s00467-006-0354-5.
Paracellin-1 gene mutation with multiple congenital abnormalities.
Turkmen M, Kasap B, Soylu A, Bober E, Konrad M, Kavukcu S
Pediatr Nephrol. 2006; 21(11):1776-8.
PMID: 16924549
DOI: 10.1007/s00467-006-0247-7.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.
Kang J, Choi H, Cho H, Lee J, Ha I, Cheong H
Pediatr Nephrol. 2005; 20(10):1490-3.
PMID: 16047219
DOI: 10.1007/s00467-005-1969-7.