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Lista de obras de Michael J Econs

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells

artículo científico publicado en 2012

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

artículo científico publicado en 2007

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

artículo científico publicado en 2007

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

artículo científico publicado en 2005

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression

artículo científico publicado en 2009

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes

artículo científico publicado en 2005

Approach to the hypophosphatemic patient

artículo científico publicado en 2012

Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults

artículo científico publicado en 2008

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

artículo científico publicado en 2018

Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

scientific article published on 01 June 2003

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

artículo científico publicado en 2006

Bone loss at the femoral neck in premenopausal white women: effects of weight change and sex-hormone levels

artículo científico publicado en 2002

Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

artículo científico publicado en 1999

Bone mineral density variation in men is influenced by sex-specific and non sex-specific quantitative trait loci

artículo científico publicado en 2009

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

artículo científico publicado en 2008

Case 29-2001: Oncogenic Hypophosphatemic Osteomalacia

artículo científico publicado en 2002

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

artículo científico publicado en 2003

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

artículo científico publicado en 2010

Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women

artículo científico publicado en 2004

Contribution of the LRP5 gene to normal variation in peak BMD in women

artículo científico publicado en 2004

Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy

artículo científico publicado en 2015

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis

artículo científico publicado en 2011

Discordance for X-linked hypophosphataemic rickets in identical twin girls

artículo científico publicado en 2009

Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties

artículo científico publicado en 2006

Disentangling the genetics of lean mass

article

Disorders of phosphate metabolism.

artículo científico publicado en 2000

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia

scientific article published on 23 May 2013

Effect of raloxifene after recombinant teriparatide [hPTH(1-34)] treatment in postmenopausal women with osteoporosis

artículo científico publicado en 2007

Efficient and stable gene expression into human osteoclasts using an HIV-1-based lentiviral vector

artículo científico publicado en 2008

Epistasis between QTLs for bone density variation in Copenhagen x dark agouti F2 rats

artículo científico publicado en 2009

Epistatic effects contribute to variation in BMD in Fischer 344 x Lewis F2 rats

scientific article published on January 2008

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

artículo científico publicado en 2017

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

artículo científico publicado en 2010

Evaluation of vertebral fracture assessment by dual X-ray absorptiometry in a multicenter setting

artículo científico publicado en 2008

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

artículo científico publicado en 2003

FGF-23 is elevated by chronic hyperphosphatemia

artículo científico publicado en 2004

FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets

artículo científico publicado en 2007

FGF23 is processed by proprotein convertases but not by PHEX.

artículo científico publicado en 2004

False positive rates in association studies as a function of degree of stratification

artículo científico publicado en 2004

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

artículo científico publicado en 2003

Fibroblast growth factor 23: roles in health and disease

artículo científico publicado en 2005

Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23.

artículo científico publicado en 2007

Fine mapping of bone structure and strength QTLs in heterogeneous stock rat.

artículo científico publicado en 2015

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

artículo científico publicado en 2013

Genetic Variants Associated with Circulating Parathyroid Hormone

artículo científico publicado en 2016

Genetic diseases resulting from disordered FGF23/klotho biology

artículo científico publicado en 2016

Genetic loci affecting bone structure and strength in inbred COP and DA rats

artículo científico publicado en 2007

Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse

artículo científico publicado en 2014

Genetics of familial tumoral calcinosis

artículo científico publicado en 2009

Genetics of osteoporosis

scientific article published on 01 June 2002

Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis

artículo científico publicado en 2000

Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains.

artículo científico publicado en 2005

Genome screen for quantitative trait loci underlying normal variation in femoral structure

artículo científico publicado en 2001

Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women

artículo científico publicado en 2010

Genome-wide association study of serum iron phenotypes in premenopausal women of European descent

artículo científico publicado en 2015

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

artículo científico publicado en 2012

Genomic expression analysis of rat chromosome 4 for skeletal traits at femoral neck

artículo científico publicado en 2008

Heritability of changes in bone size and bone mass with age in premenopausal white sisters

artículo científico publicado en 2006

Heterogeneity in Paget disease of the bone

scientific article published on 01 June 2000

Heterogeneous stock rat: a unique animal model for mapping genes influencing bone fragility

artículo científico publicado en 2011

High-resolution genome screen for bone mineral density in heterogeneous stock rat.

artículo científico publicado en 2014

Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women

article

Hypophosphatemia, osteomalacia and proximal muscle weakness treated by surgery

scientific article published on 01 June 2003

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis

scientific article published on 09 October 2009

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis

artículo científico publicado en 2014

Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women

artículo científico publicado en 2008

Identification of a quantitative trait locus on rat chromosome 4 that is strongly linked to femoral neck structure and strength

artículo científico publicado en 2006

Identification of genes influencing skeletal phenotypes in congenic P/NP rats

artículo científico publicado en 2010

Interferon Gamma, but not Calcitriol Improves the Osteopetrotic Phenotypes in ADO2 Mice

artículo científico publicado en 2015

Introduction to skeletal genetics

artículo científico publicado en 2008

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

artículo científico publicado en 2006

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

artículo científico publicado en 2013

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia

artículo científico publicado en 2013

Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans

artículo científico publicado en 2011

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

artículo científico publicado en 2017

Linkage of structure at the proximal femur to chromosomes 3, 7, 8, and 19

scientific article published on 01 June 2003

Linkage screen for BMD phenotypes in male and female COP and DA rat strains

artículo científico publicado en 2008

MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia

artículo científico publicado en 2000

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

artículo científico publicado en 2002

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

artículo científico publicado en 2007

Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women

artículo científico publicado en 2013

Meta‐Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

artículo científico publicado en 2019

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

scientific journal article

Mosaicism in osteopathia striata with cranial sclerosis

artículo científico publicado en 2010

Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature

artículo científico publicado en 2004

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

artículo científico publicado en 2008

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

artículo científico publicado en 2004

New insights into the pathogenesis of inherited phosphate wasting disorders.

artículo científico publicado en 1999

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

article

NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

artículo científico publicado en 2007

Osteoblast-Specific Overexpression of Human WNT16 Increases Both Cortical and Trabecular Bone Mass and Structure in Mice

artículo científico publicado en 2015

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

artículo científico publicado en 2004

Osteopetroses, emphasizing potential approaches to treatment

artículo científico publicado en 2017

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Peak bone mineral density at the hip is linked to chromosomes 14q and 15q

scientific article published on 16 March 2004

Persistent tumor-induced osteomalacia confirmed by elevated postoperative levels of serum fibroblast growth factor-23 and 5-year follow-up of bone density changes

artículo científico publicado en 2005

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

artículo científico publicado en 2016

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature

scientific article published on 14 October 2009

Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women

artículo científico publicado en 2006

Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women

artículo científico publicado en 2005

Renal phosphate wasting disorders: clinical features and pathogenesis

artículo científico publicado en 2004

Replication of previous genome-wide association studies of bone mineral density in premenopausal American women

artículo científico publicado en 2010

Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna

artículo científico publicado en 2004

SIBLING family genes and bone mineral density: association and allele-specific expression in humans

artículo científico publicado en 2014

Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

artículo científico publicado en 2006

Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women

artículo científico publicado en 2016

Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men

artículo científico publicado en 2005

Sex-specific genetic loci for femoral neck bone mass and strength identified in inbred COP and DA rats

artículo científico publicado en 2008

Sex-specific quantitative trait loci contribute to normal variation in bone structure at the proximal femur in men

artículo científico publicado en 2005

Sib pair linkage and association studies between bone mineral density and the interleukin-6 gene locus

scientific article published on 01 July 2000

Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus

artículo científico publicado en 1999

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

artículo científico publicado en 2002

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

artículo científico publicado en 2001

The genetics of absorptive hypercalciuria--a note of caution

artículo científico publicado en 2002

The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

artículo científico publicado en 2006

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

artículo científico publicado en 2010

Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations

artículo científico publicado en 2010

Tumor-induced rickets: usefulness of MR gradient echo recall imaging for tumor localization

artículo científico publicado en 2004

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

artículo científico publicado en 2006

Whole-genome scan for linkage to bone strength and structure in inbred Fischer 344 and Lewis rats

artículo científico publicado en 2005

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

artículo científico publicado en 2012

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