Published in J Clin Endocrinol Metab on December 12, 2006
Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet (2008) 1.06
Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis. Clin Orthop Relat Res (2008) 1.03
The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. PLoS One (2010) 1.02
A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series. J Med Case Rep (2013) 0.88
Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models. Bone (2013) 0.87
Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men. J Clin Endocrinol Metab (2013) 0.85
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. Osteoporos Int (2015) 0.85
Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management. Rheumatology (Oxford) (2013) 0.84
Dissociation of bone resorption and bone formation in adult mice with a non-functional V-ATPase in osteoclasts leads to increased bone strength. PLoS One (2011) 0.84
Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology. Lab Invest (2013) 0.83
Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report. Case Rep Dent (2013) 0.82
Osteopetrosis complicated by osteomyelitis of the maxilla and mandible: light and electron microscopic findings. Head Neck Pathol (2009) 0.82
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). J Bone Miner Metab (2009) 0.81
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families. J Bone Miner Metab (2011) 0.80
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR). BMC Med Genet (2015) 0.76
Can acetazolamide be used to treat diseases involving increased bone mineral density? Intractable Rare Dis Res (2016) 0.75
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. Am J Med Genet A (2016) 0.75
Osteopetrosis and Chiari type I malformation: a rare association. J Surg Case Rep (2015) 0.75
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2. Mol Pain (2016) 0.75
Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization. Cell Tissue Res (2015) 0.75
Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2. Mol Ther Nucleic Acids (2015) 0.75
Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7. Bone Res (2016) 0.75
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet (2010) 8.89
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med (2003) 8.87
Six-item screener to identify cognitive impairment among potential subjects for clinical research. Med Care (2002) 8.22
Effectiveness of collaborative care for older adults with Alzheimer disease in primary care: a randomized controlled trial. JAMA (2006) 5.53
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol (2004) 4.46
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest (2003) 3.60
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Implementing a screening and diagnosis program for dementia in primary care. J Gen Intern Med (2005) 3.26
Genetics of osteoporosis. Endocr Rev (2002) 2.91
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest (2007) 2.79
Computerized decision support to reduce potentially inappropriate prescribing to older emergency department patients: a randomized, controlled trial. J Am Geriatr Soc (2009) 2.32
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab (2005) 2.30
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A (2011) 2.24
Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects. Biochem Biophys Res Commun (2010) 2.20
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet (2004) 1.92
Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab (2006) 1.91
FGF23 is processed by proprotein convertases but not by PHEX. Bone (2004) 1.79
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab (2011) 1.75
NHANES monitoring of serum 25-hydroxyvitamin D: a roundtable summary. J Nutr (2010) 1.74
Racial differences in sensitivity of blood pressure to aldosterone. Hypertension (2014) 1.56
Impact and recognition of cognitive impairment among hospitalized elders. J Hosp Med (2010) 1.56
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab (2006) 1.49
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology (2009) 1.37
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res (2007) 1.36
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab (2010) 1.31
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A (2010) 1.30
Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women. J Clin Endocrinol Metab (2010) 1.30
Fibroblast growth factor 23: roles in health and disease. J Am Soc Nephrol (2005) 1.27
Vitamin D status and calcium metabolism in adolescent black and white girls on a range of controlled calcium intakes. J Clin Endocrinol Metab (2008) 1.26
Contribution of the LRP5 gene to normal variation in peak BMD in women. J Bone Miner Res (2004) 1.26
Efficiency, comprehensiveness and cost-effectiveness when comparing dictation and electronic templates for operative reports. AMIA Annu Symp Proc (2005) 1.25
Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men. J Clin Endocrinol Metab (2005) 1.23
Costimulation modulation with abatacept in patients with recent-onset type 1 diabetes: follow-up 1 year after cessation of treatment. Diabetes Care (2013) 1.21
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab (2007) 1.18
Risk of mortality for dementia in a developing country: the Yoruba in Nigeria. Int J Geriatr Psychiatry (2002) 1.18
Peak bone mineral density at the hip is linked to chromosomes 14q and 15q. Osteoporos Int (2004) 1.17
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab (2006) 1.17
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). Clin Chem (2004) 1.17
Enhancing care for hospitalized older adults with cognitive impairment: a randomized controlled trial. J Gen Intern Med (2012) 1.16
Ten-year rate of longitudinal change in neurocognitive and motor function in prediagnosis Huntington disease. Mov Disord (2008) 1.16
Approach to the hypophosphatemic patient. J Clin Endocrinol Metab (2012) 1.16
Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women. J Bone Miner Res (2013) 1.16
Apolipoprotein E and mortality in African-Americans and Yoruba. J Alzheimers Dis (2003) 1.16
Lower provider volume is associated with higher failure rates for endoscopic retrograde cholangiopancreatography. Med Care (2013) 1.10
Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains. Mamm Genome (2005) 1.10
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res (2003) 1.10
NIH consensus development conference statement: Lactose intolerance and health. NIH Consens State Sci Statements (2010) 1.05
Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. J Clin Endocrinol Metab (2002) 1.04
An effective computerized reminder for contact isolation of patients colonized or infected with resistant organisms. Int J Med Inform (2007) 1.04
Whole-genome scan for linkage to bone strength and structure in inbred Fischer 344 and Lewis rats. J Bone Miner Res (2005) 1.04
Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women. Am J Hum Genet (2004) 1.04
Analgesic prescribing for patients who are discharged from an emergency department. Pain Med (2010) 1.02
ISPAD Clinical Practice Consensus Guidelines 2014. Microvascular and macrovascular complications in children and adolescents. Pediatr Diabetes (2014) 1.01
Sex-specific quantitative trait loci contribute to normal variation in bone structure at the proximal femur in men. Bone (2005) 1.01
Parent and adolescent versions of the diabetes-specific parental support for adolescents' autonomy scale: development and initial testing. J Pediatr Psychol (2005) 1.00
Human ALOX12, but not ALOX15, is associated with BMD in white men and women. J Bone Miner Res (2006) 1.00
Mass media release of medical research results: an analysis of antihypertensive drug prescribing in the aftermath of the calcium channel blocker scare of March 1995. J Gen Intern Med (2003) 1.00
Computerized decision support for medication dosing in renal insufficiency: a randomized, controlled trial. Ann Emerg Med (2010) 0.99
Epistatic effects contribute to variation in BMD in Fischer 344 x Lewis F2 rats. J Bone Miner Res (2008) 0.98
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res (2012) 0.97
Gestational diabetes mellitus alters maternal and neonatal circulating endothelial progenitor cell subsets. Am J Obstet Gynecol (2010) 0.97
A computerized decision support system improves the accuracy of temperature capture from nursing personnel at the bedside. AMIA Annu Symp Proc (2006) 0.97
Renal phosphate wasting disorders: clinical features and pathogenesis. Semin Nephrol (2004) 0.96
Improving delirium care in the intensive care unit: the design of a pragmatic study. Trials (2011) 0.96
Association of hepatitis C virus infection with prevalence and development of kidney disease. Am J Kidney Dis (2008) 0.96
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. J Bone Miner Res (2006) 0.96
Pubertal onset in children with perinatal HIV infection in the era of combination antiretroviral treatment. AIDS (2013) 0.95
Low-intensity pulsed ultrasound and nonsteroidal anti-inflammatory drugs have opposing effects during stress fracture repair. J Orthop Res (2007) 0.94
Aggregate risk of cardiovascular disease among adolescents perinatally infected with the human immunodeficiency virus. Circulation (2013) 0.94
False positive rates in association studies as a function of degree of stratification. J Bone Miner Res (2004) 0.94
Heritability of changes in bone size and bone mass with age in premenopausal white sisters. J Bone Miner Res (2006) 0.93
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. Bone (2008) 0.92
Hospital resource utilization in childhood cancer. J Pediatr Hematol Oncol (2005) 0.92
Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2009) 0.92
Genetic loci affecting bone structure and strength in inbred COP and DA rats. Bone (2007) 0.92
Which experiences in the hidden curriculum teach students about professionalism? Acad Med (2011) 0.91
Persistent tumor-induced osteomalacia confirmed by elevated postoperative levels of serum fibroblast growth factor-23 and 5-year follow-up of bone density changes. Endocr Pract (2005) 0.91
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone (2005) 0.90
Bone mineral density variation in men is influenced by sex-specific and non sex-specific quantitative trait loci. Bone (2009) 0.90
Bone loss at the femoral neck in premenopausal white women: effects of weight change and sex-hormone levels. J Clin Endocrinol Metab (2002) 0.90
Effectiveness of implementing a wake up and breathe program on sedation and delirium in the ICU. Crit Care Med (2014) 0.90
Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study. J Clin Endocrinol Metab (2009) 0.89
Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13. J Clin Endocrinol Metab (2002) 0.89
Linkage screen for BMD phenotypes in male and female COP and DA rat strains. J Bone Miner Res (2008) 0.89
An illness-death stochastic model in the analysis of longitudinal dementia data. Stat Med (2003) 0.89
Using computerized provider order entry and clinical decision support to improve referring physicians' implementation of consultants' medical recommendations. J Am Med Inform Assoc (2008) 0.88
Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women. J Clin Endocrinol Metab (2005) 0.88