Publications by authors named "David E Cole"

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50 Years Ago in TheJournal ofPediatrics: Familial Hyperphosphatasia with Mental Retardation, Seizures, and Neurologic Deficits.
Miles D Thompson, David E Cole, C Charlton Mabry

J Pediatr· July 2020

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Miles D Thompson, Alexej A Knaus, Bruce A Barshop, Almuth Caliebe, Hiltrud Muhle, David E Cole

Eur J Med Genet· April 2020

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Association of Directly Measured Plasma Free 25(OH)D With Insulin Sensitivity and Secretion: The IRAS Family Study.
C Christine Lee, Kendra A Young, Jill M Norris, Jerome I Rotter, Yeheng Liu, David E Cole

J Clin Endocrinol Metab· August 2017

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Vitamin D status in primary hyperparathyroidism: effect of genetic background.
Claudia Battista, Vito Guarnieri, Vincenzo Carnevale, Filomena Baorda, Mauro Pileri, David E C Cole

Endocrine· January 2017

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, David E Cole

Hum Mutat· August 2016

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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Miles D Thompson, David E Cole

Hum Mutat· July 2016

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Characterization of additional vitamin D binding protein variants.
Lei Fu, Chad R Borges, Douglas S Rehder, Betty Y L Wong, Rashida Williams, David E C Cole

J Steroid Biochem Mol Biol· May 2016

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Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
David E C Cole, Miles D Thompson

Subcell Biochem· January 2016

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Traditional foods and 25(OH)D concentrations in a subarctic First Nations community.
Sudaba Mansuri, Alaa Badawi, Sheena Kayaniyil, David E Cole, Stewart B Harris

Int J Circumpolar Health· January 2016

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Associations of circulating 25(OH)D with cardiometabolic disorders underlying type 2 diabetes mellitus in an Aboriginal Canadian community.
Sudaba Mansuri, Alaa Badawi, Sheena Kayaniyil, David E Cole, Stewart B Harris

Diabetes Res Clin Pract· August 2015

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Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.
Sirpa Tenhola, Geoffrey N Hendy, Helena Valta, Lucie Canaff, Bonnie S P Lee, David E C Cole

J Clin Endocrinol Metab· July 2015

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G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights.
Miles D Thompson, David E C Cole, Pedro A Jose, Peter Chidiac

Methods Mol Biol· May 2015

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G protein-coupled receptor mutations and human genetic disease.
Miles D Thompson, Geoffrey N Hendy, Maire E Percy, Daniel G Bichet, David E C Cole

Methods Mol Biol· May 2015

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Pharmacogenetics of the G protein-coupled receptors.
Miles D Thompson, David E C Cole, Valerie Capra, Katherine A Siminovitch, G Enrico Rovati

Methods Mol Biol· May 2015

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Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.
Giuseppe Vezzoli, Alfredo Scillitani, Sabrina Corbetta, Annalisa Terranegra, Elena Dogliotti, David E C Cole

J Nephrol· February 2015

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Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.
Leonardo D'Agruma, Michela Coco, Vito Guarnieri, Claudia Battista, Lucie Canaff, David E C Cole

J Clin Endocrinol Metab· December 2014

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The causal effect of vitamin D binding protein (DBP) levels on calcemic and cardiometabolic diseases: a Mendelian randomization study.
Aaron Leong, Waheed Rehman, Zari Dastani, Celia Greenwood, Nicholas Timpson, David E C Cole

PLoS Med· October 2014

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Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, David E C Cole

PLoS One· September 2014

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Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism.
Cristina Eller-Vainicher, Claudia Battista, Vito Guarnieri, Silvana Muscarella, Serena Palmieri, David E C Cole

Eur J Endocrinol· September 2014

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Serum voriconazole level variability in patients with hematological malignancies receiving voriconazole therapy.
Lalit Saini, Jack T Seki, Deepali Kumar, Eshetu G Atenafu, David Ec Cole

Can J Infect Dis Med Microbiol· September 2014

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Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
Geoffrey N Hendy, Lucie Canaff, Ron S Newfield, Liana Tripto-Shkolnik, Betty Y L Wong, David E C Cole

J Clin Endocrinol Metab· July 2014

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Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.
Zeynep Atay, Abdullah Bereket, Belma Haliloglu, Saygin Abali, Tutku Ozdogan, David E C Cole

Bone· July 2014

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Effect of vitamin D-binding protein genotype on the development of asthma in children.
Aledie Navas-Nazario, Fang Yong Li, Veronika Shabanova, Pnina Weiss, David E C Cole

Ann Allergy Asthma Immunol· June 2014

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Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Geoffrey N Hendy, David E C Cole

J Clin Endocrinol Metab· December 2013

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