Published in Pediatr Nephrol on April 30, 2008
Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol (2013) 1.64
Composition and morphology of phosphate stones and their relation with etiology. Urol Res (2010) 1.07
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol (2010) 1.05
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J Am Soc Nephrol (2014) 0.92
Drosophila melanogaster as an emerging translational model of human nephrolithiasis. J Urol (2013) 0.91
Calcium-sensing receptor and aquaporin 2 interplay in hypercalciuria-associated renal concentrating defect in humans. An in vivo and in vitro study. PLoS One (2012) 0.90
Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. Nephron Extra (2012) 0.88
Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review. Hepat Mon (2012) 0.86
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One (2013) 0.85
Epidemiology of pediatric urolithiasis. Indian J Urol (2010) 0.80
Pediatric urolithiasis: metabolic risk factors and follow-up results in a Turkish region with endemic stone disease. Urolithiasis (2014) 0.77
Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese population. Urolithiasis (2014) 0.77
NaPi-IIa interacting proteins and regulation of renal reabsorption of phosphate. Urol Res (2010) 0.77
Challenges for epidemiologic research on the verge of a new era. Eur J Epidemiol (2011) 0.76
Prostaglandin-E2 Mediated Increase in Calcium and Phosphate Excretion in a Mouse Model of Distal Nephron Salt Wasting. PLoS One (2016) 0.75
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. Bone (2016) 0.75
The low levels of circulating hepatocyte growth factor in nephrolithiasis cases: independent from gene polymorphism. Urolithiasis (2015) 0.75
Time trends in reported prevalence of kidney stones in the United States: 1976-1994. Kidney Int (2003) 9.11
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science (1999) 6.04
A prospective study of dietary calcium and other nutrients and the risk of symptomatic kidney stones. N Engl J Med (1993) 5.87
A common molecular basis for three inherited kidney stone diseases. Nature (1996) 4.26
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet (1996) 3.84
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet (1999) 3.73
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet (1996) 3.71
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature (2001) 3.69
Claudins create charge-selective channels in the paracellular pathway between epithelial cells. Am J Physiol Cell Physiol (2002) 3.59
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med (2002) 3.24
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A (1998) 3.24
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med (1996) 3.20
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet (2006) 2.96
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature (2000) 2.79
Twenty-four-hour urine chemistries and the risk of kidney stones among women and men. Kidney Int (2001) 2.62
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet (2005) 2.42
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci U S A (1998) 2.34
Urolithiasis in pediatric patients. Mayo Clin Proc (1993) 2.28
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet (1994) 2.23
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet (2005) 2.21
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet (2002) 2.11
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab (2002) 1.92
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet (2002) 1.89
Family history and risk of kidney stones. J Am Soc Nephrol (1997) 1.82
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest (1997) 1.81
Dent Disease with mutations in OCRL1. Am J Hum Genet (2004) 1.81
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol (2002) 1.75
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol (2001) 1.73
Bartter syndrome. Curr Opin Nephrol Hypertens (2003) 1.72
A simple test for the diagnosis of absorptive, resorptive and renal hypercalciurias. N Engl J Med (1975) 1.71
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab (2000) 1.71
Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells. Proc Natl Acad Sci U S A (1992) 1.69
Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics (1968) 1.66
Structure and function of the Lowe syndrome protein OCRL1. Traffic (2005) 1.65
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet (1993) 1.63
Familial idiopathic hypercalciuria. N Engl J Med (1979) 1.61
Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med (1985) 1.59
A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry. Kidney Int (2005) 1.57
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem (1998) 1.56
The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease. Pflugers Arch (2002) 1.56
Cloning and characterization of the human soluble adenylyl cyclase. Am J Physiol Cell Physiol (2005) 1.54
CLC chloride channels and transporters. Curr Opin Neurobiol (2005) 1.53
Molecular and cellular biology of the erythrocyte anion exchanger (AE1). Semin Hematol (1993) 1.49
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet (2003) 1.47
Insights into the molecular nature of magnesium homeostasis. Am J Physiol Renal Physiol (2004) 1.43
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet (1999) 1.38
Molecular biology of the anion exchanger gene family. Int Rev Cytol (1990) 1.36
Molecular mechanisms of primary hypercalciuria. J Am Soc Nephrol (2003) 1.33
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int (2003) 1.31
Localization of pH regulating proteins H+ATPase and Cl-/HCO3- exchanger in the guinea pig inner ear. Hear Res (1997) 1.29
Pediatric urolithiasis. Urol Clin North Am (1997) 1.24
Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) (2002) 1.24
Genetic hypercalciuria. J Am Soc Nephrol (2005) 1.23
Genetic predisposition to formation of calcium oxalate renal calculi. N Engl J Med (1968) 1.22
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet (1996) 1.21
Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab (2000) 1.16
Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney. Am J Physiol (1987) 1.15
Familial aggregation of renal calcium stone disease. J Urol (1988) 1.15
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat (2000) 1.14
Epidemiology of nephrolithiasis. Nephron (1999) 1.12
Nephrolithiasis in children. Pediatr Nephrol (2005) 1.12
Seasonal variations in the composition of urine in relation to calcium stone-formation. Clin Sci Mol Med (1975) 1.11
Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24. J Clin Endocrinol Metab (1999) 1.10
Childhood urolithiasis: experiences and advances. Pediatrics (1991) 1.09
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int (2002) 1.09
Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. J Clin Endocrinol Metab (2004) 1.09
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J (2000) 1.05
Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome. Proc Natl Acad Sci U S A (1999) 0.99
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet (2004) 0.97
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. J Bone Miner Res (2003) 0.96
Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism. Endocrinol Metab Clin North Am (1989) 0.96
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. J Am Soc Nephrol (2001) 0.95
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J Urol (1995) 0.95
Pediatric kidney stones: long-term outcomes. Urology (2006) 0.95
Heredity in renal stone disease. Clin Sci (1960) 0.94
Idiopathic hypercalciuria and hyperuricosuria: family prevalence of nephrolithiasis. Pediatr Nephrol (2000) 0.93
Sunlight and hypercalciuria. Lancet (1975) 0.93
Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. J Am Soc Nephrol (1999) 0.92
Hypercalciuria. Joint Bone Spine (2000) 0.92
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res (1994) 0.91
Nephrolithiasis. Semin Nephrol (1999) 0.91
Childhood stones. Endocrinol Metab Clin North Am (2002) 0.89
Familial absorptive hypercalciuria in a large kindred. J Urol (1981) 0.88
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. Nephrol Dial Transplant (2005) 0.85
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). Biochem Soc Symp (2005) 0.83
Urolithiasis in childhood: current management. J Pediatr Surg (1987) 0.79
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. Exp Nephrol (2000) 0.79
Pediatric urolithiasis: medical and surgical management. Urology (1996) 0.79
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant (2005) 0.77
Nephrolithiasis. Curr Ther Endocrinol Metab (1997) 0.76
Gastroenteropancreatic neuroendocrine tumours. Lancet Oncol (2008) 7.65
Guidelines for the management of thyroid cancer. Clin Endocrinol (Oxf) (2014) 2.56
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J Clin Endocrinol Metab (2014) 2.38
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genet (2011) 2.34
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat (2008) 2.27
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol (2006) 1.73
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet (2012) 1.53
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet (2012) 1.51
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem (2004) 1.47
Anatomic and functional imaging of metastatic carcinoid tumors. Radiographics (2007) 1.47
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36
Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. Mol Cell Biol (2008) 1.32
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Proc Natl Acad Sci U S A (2004) 1.29
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet (2009) 1.24
Genetic contribution to renal function and electrolyte balance: a twin study. Clin Sci (Lond) (2002) 1.24
Dent's disease. Orphanet J Rare Dis (2010) 1.23
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab (2005) 1.22
Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia. Endocr Relat Cancer (2009) 1.21
Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J Am Soc Nephrol (2002) 1.14
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest (2005) 1.14
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab (2012) 1.12
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol (2009) 1.09
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat (2010) 1.08
Establishing normal plasma and 24-hour urinary biochemistry ranges in C3H, BALB/c and C57BL/6J mice following acclimatization in metabolic cages. Lab Anim (2010) 1.07
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). J Clin Invest (2005) 1.07
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism. Best Pract Res Clin Endocrinol Metab (2013) 1.07
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease. Am J Physiol Renal Physiol (2009) 1.06
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. Am J Physiol Renal Physiol (2008) 1.05
Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1. Eur J Endocrinol (2008) 1.05
Genetics of hypercalciuric nephrolithiasis: renal stone disease. Ann N Y Acad Sci (2007) 1.04
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Audiol Neurootol (2006) 1.02
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. Hum Mutat (2014) 1.02
Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. Endocr Pract (2011) 1.00
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. PLoS One (2010) 0.99
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet (2002) 0.97
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). Hum Mutat (2010) 0.96
Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. J Clin Invest (2010) 0.95
Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease. J Am Soc Nephrol (2003) 0.95
The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. J Bone Miner Res (2003) 0.94
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. J Bone Miner Res (2012) 0.94
Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int (2003) 0.94
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density. Clin Endocrinol (Oxf) (2006) 0.93
Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. J Clin Endocrinol Metab (2009) 0.92
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. Nephron Physiol (2009) 0.91
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. Proc Natl Acad Sci U S A (2013) 0.91
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. J Clin Endocrinol Metab (2010) 0.90
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin Endocrinol (Oxf) (2010) 0.90
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab (2014) 0.90
Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol (2013) 0.90
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab (2009) 0.89
Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. J Clin Endocrinol Metab (2003) 0.89
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. J Clin Endocrinol Metab (2010) 0.89
Whole-exome sequencing studies of nonfunctioning pituitary adenomas. J Clin Endocrinol Metab (2013) 0.89
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet (2010) 0.88
Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers. J Endocrinol (2009) 0.88
Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging. J Bone Miner Res (2012) 0.88
Mouse models for inherited endocrine and metabolic disorders. J Endocrinol (2011) 0.86
A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. J Clin Endocrinol Metab (2005) 0.86
Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab (2008) 0.86
GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness. Horm Cancer (2013) 0.86
Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int (2004) 0.86
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One (2013) 0.85
Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumors. Endocrinology (2012) 0.84
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. Genomics (2004) 0.84
CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma. J Clin Endocrinol Metab (2014) 0.84
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra (2012) 0.84
MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas. Cancer Res (2012) 0.83
Molecular and functional characterization of the extracellular calcium-sensing receptor in human colon cancer cells. Oncol Res (2003) 0.83
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet (2010) 0.83
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship. Kidney Int (2003) 0.83
Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. Radiographics (2006) 0.82
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3. Eur J Hum Genet (2009) 0.82
Investigating hypocalcaemia. BMJ (2013) 0.82
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab (2004) 0.82
Transcription factors in parathyroid development: lessons from hypoparathyroid disorders. Ann N Y Acad Sci (2011) 0.81
Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion. J Clin Endocrinol Metab (2014) 0.81
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). J Clin Endocrinol Metab (2014) 0.81
An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess. Endocrinology (2013) 0.80
A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. PLoS One (2012) 0.78
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. PLoS One (2012) 0.78
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab (2002) 0.78
A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf) (2007) 0.77
In memoriam: Oliver M. Wrong. Kidney Int (2012) 0.77
Mutant prolactin receptor and familial hyperprolactinemia. N Engl J Med (2014) 0.75
Kidney stones: a fetal origins hypothesis. J Bone Miner Res (2013) 0.75
Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome. Kidney Int (2002) 0.75
A legacy of tinnitus: multiple head and neck paragangliomas. Rare Tumors (2009) 0.75
Dent's disease. Nephrol Dial Transplant (2005) 0.75
Clinically relevant genetic advances in endocrinology. Clin Med (2013) 0.75
Hypoparathyroidism. Nat Rev Dis Prim (2017) 0.75