Related references
Note: Only part of the references are listed.ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
Douglas Ralph et al.
PLOS GENETICS (2022)
Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency
Justin J. Arnett et al.
American Journal of Ophthalmology Case Reports (2022)
Multimodal Imaging of Severe Oxalate Retinopathy in a 20-Month-Old Boy
Figen Bezci Aygun et al.
OPHTHALMIC SURGERY LASERS & IMAGING RETINA (2022)
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
Mark Stevenson et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2022)
Inherited Tubulopathies of the Kidney Insights from Genetics
Mallory L. Downie et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas
Sarah E. Sheppard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Gitelman syndrome and ectopic calcification in the retina and joints
Yeji Ham et al.
CLINICAL KIDNEY JOURNAL (2021)
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease
Qing Ye et al.
CLINICAL GENETICS (2020)
Mitochondrial disorders and the eye
Eli Kisilevsley et al.
SURVEY OF OPHTHALMOLOGY (2020)
Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management
Xiaowan Ma et al.
EUROPEAN JOURNAL OF OPHTHALMOLOGY (2020)
Inherited Renal Tubulopathies-Challenges and Controversies
Daniela Iancu et al.
GENES (2020)
Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children
Aaron Schindeler et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Giovanna Mantovani et al.
HORMONE RESEARCH IN PAEDIATRICS (2020)
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
Nana Sakakibara et al.
PEDIATRIC NEPHROLOGY (2020)
Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase
Katsusuke Yamamoto et al.
CEN CASE REPORTS (2020)
Ocular changes in nephropathic cystinosis: The course of the gold-dust
Elias Flockerzi et al.
INTERNATIONAL OPHTHALMOLOGY (2019)
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Ana Perdomo-Ramirez et al.
GENE (2019)
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease
Beatrice Paola Festa et al.
HUMAN MOLECULAR GENETICS (2019)
Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report
Hata A. Helmi et al.
AMERICAN JOURNAL OF CASE REPORTS (2019)
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Douglas Chesher et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Aquaporins: Novel Targets for Age-Related Ocular Disorders
Rajkumar Patil et al.
JOURNAL OF OCULAR PHARMACOLOGY AND THERAPEUTICS (2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
Markus Reichold et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2018)
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
Emma J. Ashton et al.
KIDNEY INTERNATIONAL (2018)
Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment
Qiao Wang et al.
CHINESE MEDICAL JOURNAL (2018)
A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings
Caner Alparslan et al.
TURKISH JOURNAL OF PEDIATRICS (2018)
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
Paulo Marcio Yamaguti et al.
JOURNAL OF MEDICAL GENETICS (2017)
The CIC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron
J. Christopher Hennings et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Clinical and Genetic Spectrum of Bartter Syndrome Type 3
Elsa Seys et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
Mahdi Salih et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Anne Blanchard et al.
KIDNEY INTERNATIONAL (2017)
Clinical and molecular aspects of distal renal tubular acidosis in children
Martine T. P. Besouw et al.
PEDIATRIC NEPHROLOGY (2017)
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis
Emilie Song et al.
SCIENTIFIC REPORTS (2017)
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics
Natsuki Matsunoshita et al.
GENETICS IN MEDICINE (2016)
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
Claire Bardet et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair
Sheena Sharma et al.
CLINICAL NEPHROLOGY (2016)
Exploring the genetic basis of early-onset chronic kidney disease
Asaf Vivante et al.
NATURE REVIEWS NEPHROLOGY (2016)
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations
Kamel Laghmani et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE
Thierry Derveaux et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2016)
Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
Agnes Trautmann et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
Jeroen H. F. de Baaij et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2015)
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry
Maria E. Arteaga et al.
RENAL FAILURE (2015)
Treatment of Bartter syndrome. Unsolved issue
Carla Lessa Pena Nascimento et al.
JORNAL DE PEDIATRIA (2014)
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Alexander J. Hamilton et al.
JOURNAL OF MEDICAL GENETICS (2014)
The Case Renal tubular acidosis and eye findings Proximal renal tubular acidosis with ocular abnormalities The Diagnosis Proximal renal tubular acidosis with ocular abnormalities
Jameela A. Kari et al.
KIDNEY INTERNATIONAL (2014)
Rare inherited kidney diseases: challenges, opportunities, and perspectives
Olivier Devuyst et al.
LANCET (2014)
Nephropathic cystinosis: an international consensus document
Francesco Emma et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2014)
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
Enriko D. Klootwijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
Asaf Vivante et al.
PEDIATRIC NEPHROLOGY (2014)
Lysinuric protein intolerance presenting with multiple fractures
Jennifer E. Posey et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2014)
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Fatemeh Shams et al.
CLINICAL OPHTHALMOLOGY (2014)
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
M. Andrew Nesbit et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
The blind kidney: disorders affecting kidneys and eyes
Isabelle Russell-Eggitt et al.
PEDIATRIC NEPHROLOGY (2013)
Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
Felix Claverie-Martin et al.
PLOS ONE (2013)
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype-Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations
Astrid Godron et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome
Bob Glaudemans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Renal involvement in mitochondrial cytopathies
Francesco Emma et al.
PEDIATRIC NEPHROLOGY (2012)
Understanding Bartter syndrome and Gitelman syndrome
Oliver T. Fremont et al.
WORLD JOURNAL OF PEDIATRICS (2012)
Novel OCRL mutations in patients with Dent-2 disease
Detlef Boeckenhauer et al.
JOURNAL OF PEDIATRIC GENETICS (2012)
CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
Marchel Stuiver et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
From Lowe Syndrome to Dent Disease: Correlations between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes
Haifa Hichri et al.
HUMAN MUTATION (2011)
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria
Charles G. Bailey et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Retinal Abnormalities Characteristic of Inherited Renal Disease
Judy Savige et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome
Bernard Freudenthal et al.
NEPHRON PHYSIOLOGY (2011)
Claudin-19 and the Barrier Properties of the Human Retinal Pigment Epithelium
Shaomin Peng et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
CONGENITAL, PERSISTENT PROXIMAL TYPE RENAL TUBULAR ACIDOSIS IN TWO BROTHERS1
ARNT WINSNES et al.
ACTA PAEDIATRICA (2010)
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Bettina Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Lysinuric protein intolerance, an autosomal recessive disease
R. Norio et al.
CLINICAL GENETICS (2010)
Isolated autosomal recessive renal magnesium loss in two sisters
W. B. Geven et al.
CLINICAL GENETICS (2010)
Hereditary disorders of renal phosphate wasting
Amir S. Alizadeh Naderi et al.
NATURE REVIEWS NEPHROLOGY (2010)
BRIEF REPORT A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome
Daniella Magen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family
Mohammad Al-Haggar et al.
CLINICAL AND EXPERIMENTAL NEPHROLOGY (2009)
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
Celine Gaucher et al.
HUMAN GENETICS (2009)
Dent-2 Disease: A Mild Variant of Lowe Syndrome
Arend Bokenkamp et al.
JOURNAL OF PEDIATRICS (2009)
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations.
Detlef Bockenhauer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches
Robert P. Finger et al.
SURVEY OF OPHTHALMOLOGY (2009)
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules
C. Auray-Blais et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis
Loreta Cimbalistiene et al.
JOURNAL OF APPLIED GENETICS (2007)
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: Report of a case and review of the literature
Ekaterini Tsilou et al.
SURVEY OF OPHTHALMOLOGY (2007)
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
Martin Konrad et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Nephropathic cystinosis - Posterior segment manifestations and effects of cysteamine therapy
Ekaterini T. Tsilou et al.
OPHTHALMOLOGY (2006)
Genetic investigation of autosomal recessive distal renal tubular acidosis:: Evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene
Rosa Vargas-Poussou et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2006)
Bartter-like phenotype in Kearns-Sayre syndrome
F Emma et al.
PEDIATRIC NEPHROLOGY (2006)
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
M Feldman et al.
CLINICAL GENETICS (2006)
Renal pathology in children with mitochondrial diseases
E Martín-Hernández et al.
PEDIATRIC NEPHROLOGY (2005)
Sclerochoroidal calcification in a patient with classic Bartter's syndrome
H Sun et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2005)
Dent disease with mutations in OCRL1
RR Hoopes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Salt wasting and deafness resulting from mutations in two chloride channels
KP Schlingmann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification
TA Hough et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis
S Sritippayawan et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2004)
Cataracts and glaucoma in patients with oculocerebrorenal syndrome
SJ Kruger et al.
ARCHIVES OF OPHTHALMOLOGY (2003)
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the β-subunit for CIC-Ka and CIC-Kb chloride channels, Barttin
N Miyamura et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Responsiveness of hypercalciuria to thiazide in Dent's disease
KA Raja et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2002)
Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis
T Igarashi et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2002)
Cystinosis
WA Gahl et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Review: Sclerochoroidal calcification - The 2001 Harold Gifford Lecture
JA Shields et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2002)
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
N Jeck et al.
PEDIATRICS (2001)
Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle
A Blanchard et al.
KIDNEY INTERNATIONAL (2001)
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
DN Cruz et al.
KIDNEY INTERNATIONAL (2001)
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3
U Lichter-Konecki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Choroidal calcifications in patients with Gitelman's syndrome
G Vezzoli et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2000)
Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops
WA Gahl et al.
MOLECULAR GENETICS AND METABOLISM (2000)
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
S Weber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
