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1. Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.

Authors: Félix Claverie-Martín; Rosa Vargas-Poussou; Dominik Müller; Víctor García-Nieto
Journal: Eur J Hum Genet Date: 2014-09-03 Impact factor: 4.246

2. Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Authors: Paulo Marcio Yamaguti; Pollyanna Almeida Costa dos Santos; Bruno Sakamoto Leal; Viviane Brandão Bandeira de Mello Santana; Juliana Forte Mazzeu; Ana Carolina Acevedo; Francisco de Assis Rocha Neves
Journal: BMC Nephrol Date: 2015-07-02 Impact factor: 2.388

Review 3. Claudins in Renal Physiology and Pathology.

Authors: Caroline Prot-Bertoye; Pascal Houillier
Journal: Genes (Basel) Date: 2020-03-10 Impact factor: 4.096

4. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Authors: Felix Claverie-Martin
Journal: Clin Kidney J Date: 2015-09-01

5. 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.

Authors: Jingru Lu; Xiangzhong Zhao; Alessandro Paiardini; Yanhua Lang; Irene Bottillo; Leping Shao
Journal: BMC Nephrol Date: 2018-07-13 Impact factor: 2.388

5 in total