David E Cole

David E Cole

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Relationship of total and free 25-hydroxyvitamin D to biomarkers and metabolic indices in healthy children.

J Clin Endocrinol Metab 2019 Nov 27. Epub 2019 Nov 27.

Pediatrics (Endocrinology), Yale University School of Medicine, New Haven, CT.

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http://dx.doi.org/10.1210/clinem/dgz230DOI Listing
November 2019

Parathyroid carcinoma.

Best Pract Res Clin Endocrinol Metab 2018 12 1;32(6):877-889. Epub 2018 Dec 1.

Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2018.11.002DOI Listing
December 2018

Variance Formulae for Correlation Measures of Linkage Disequilibrium.

Hum Hered 2016 8;82(1-2):75-85. Epub 2017 Sep 8.

Department of Mathematics and Statistics, Dalhousie University, Halifax, NS, Canada.

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http://dx.doi.org/10.1159/000479428DOI Listing
September 2017

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

Hum Mutat 2016 07;37(7):621

Department of Pediatrics (Genetics), University of Toronto, Canada.

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http://dx.doi.org/10.1002/humu.23016DOI Listing
July 2016

Characterization of additional vitamin D binding protein variants.

J Steroid Biochem Mol Biol 2016 May 23;159:54-9. Epub 2016 Feb 23.

Department of Clinical Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pediatrics (Genetics), University of Toronto, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2016.02.022DOI Listing
May 2016

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.

Subcell Biochem 2015 ;76:343-61

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada,

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http://dx.doi.org/10.1007/978-94-017-7197-9_16DOI Listing
January 2016

Associations of circulating 25(OH)D with cardiometabolic disorders underlying type 2 diabetes mellitus in an Aboriginal Canadian community.

Diabetes Res Clin Pract 2015 Aug 20;109(2):440-9. Epub 2015 Apr 20.

Department of Nutritional Sciences, University of Toronto, Toronto, ON, Canada; Division of Endocrinology, University of Toronto, Toronto, ON, Canada; Leadership Sinai Centre for Diabetes, Mount Sinai Hospital, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.diabres.2015.04.017DOI Listing
August 2015

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.

J Clin Endocrinol Metab 2015 Jul 20;100(7):2515-8. Epub 2015 May 20.

Department of Pediatrics (S.T.), Kymenlaakso Central Hospital, Kotka and Kuopio University Hospital, 70210 Kuopio, Finland; Departments of Medicine, Physiology, and Human Genetics (G.N.H., L.C.), McGill University, and Experimental Therapeutics and Metabolism, McGill University Hospital Centre-Research Institute, Montreal, Quebec, H3H 2R9 Canada; Children's Hospital (H.V., O.M.), Helsinki University Central Hospital and University of Helsinki, 00100 Helsinki, Finland; Departments of Laboratory Medicine and Pathobiology, Medicine, and Genetics (B.S.P.L., B.Y.L.W., D.E.C.C.), University of Toronto, Toronto, Ontario M5S 2J7, Canada; Division of Endocrinology (M.J.V.), Department of Medicine, Helsinki University Central Hospital, 00029 Helsinki, Finland; Folkhälsan Institute of Genetics (O.M.), 00014 Helsinki, Finland; and Department of Molecular Medicine and Surgery (O.M.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.

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http://dx.doi.org/10.1210/jc.2015-1518DOI Listing
July 2015

G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights.

Methods Mol Biol 2014 ;1175:121-52

Department of Pharmacology, University of Toronto, 1 King's College Circle, Toronto, ON, Canada, M5S 1A8,

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http://link.springer.com/10.1007/978-1-4939-0956-8_7
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http://dx.doi.org/10.1007/978-1-4939-0956-8_7DOI Listing
May 2015

G protein-coupled receptor mutations and human genetic disease.

Methods Mol Biol 2014 ;1175:153-87

Department of Pharmacology, University of Toronto, 1 King's College Circle, Toronto, ON, Canada, M5S 1A8,

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http://dx.doi.org/10.1007/978-1-4939-0956-8_8DOI Listing
May 2015

Pharmacogenetics of the G protein-coupled receptors.

Methods Mol Biol 2014 ;1175:189-242

Department of Pharmacology and Toxicology, Faculty of Medicine, University of Toronto, 1 King's College Circle, Toronto, ON, Canada, M5S 1A8,

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http://dx.doi.org/10.1007/978-1-4939-0956-8_9DOI Listing
May 2015

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

J Clin Endocrinol Metab 2014 Dec;99(12):E2794-8

Medical Genetics, Endocrinology, Pathology and Radiology (L.D., M.C., V.G., C.B., A.S.S. G.G., R.C., D.d.M., A.Sc.), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) "Casa Sollievo della Sofferenza," 71013 San Giovanni Rotondo (FG), Italy; Endocrine and Diabetology Unit (I.C., C.E.-V., A.Sp.) Department of Medical Sciences, University of Milan and IRCCS Policlinico San Donato (S.C.), San Donato Milanese, Milan, Italy; Departments of Endocrinology and Metabolism (F.C., C.M.), University of Pisa, Pisa, Italy; Department of Internal Medicine and Medical Disciplines (S.M.), "Sapienza" Rome University, Rome, Italy; Endocrine Unit (M.Z.), Arcispedale S. Maria Nuova IRCCS, Reggio Emilia, Italy; Departments of Medicine, Physiology and Human Genetics (L.C., G.N.H.), McGill University, and Calcium Research Laboratory, and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, H3A 1A1 Canada; and Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics (B.Y.L.W., D.E.C.C.), University of Toronto, Ontario, M4N 3M5 Canada.

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http://dx.doi.org/10.1210/jc.2014-2857DOI Listing
December 2014

The causal effect of vitamin D binding protein (DBP) levels on calcemic and cardiometabolic diseases: a Mendelian randomization study.

PLoS Med 2014 Oct 28;11(10):e1001751. Epub 2014 Oct 28.

Centre for Clinical Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, Quebec, Canada; Department of Medicine, McGill University, Montreal, Quebec, Canada; Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pmed.1001751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211663PMC
October 2014

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism.

Eur J Endocrinol 2014 Sep 25;171(3):399-406. Epub 2014 Jun 25.

Unit of Endocrinology and Metabolic DiseasesFondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Padiglione Granelli, Via Francesco Sforza 35, 20122 Milan, ItalyUnit of Endocrinology'Casa Sollievo della Sofferenza', IRCCS, San Giovanni Rotondo, Foggia, ItalyUnit of Radiology'Fatebenefratelli and Oftalmico' Hospital, Milan, ItalyUnit of Radiology'Casa Sollievo della Sofferenza', IRCCS, San Giovanni Rotondo, Foggia, ItalyUnit of Endocrinology and DiabetologyDepartment of Biomedical Sciences for Health, IRCCS Policlinico San Donato, University of Milan, San Donato Milanese, Milan, ItalyDepartment of Internal Medicine and Medical Disciplines'Sapienza' Rome University, Rome, ItalyDepartments of MedicinePhysiology, and Human Genetics, McGill University, Montreal, Quebec, CanadaDepartments of Laboratory Medicine and PathobiologyMedicine and Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://www.eje-online.org/content/171/3/399.full.pdf
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http://www.eje-online.org/cgi/doi/10.1530/EJE-14-0343
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http://dx.doi.org/10.1530/EJE-14-0343DOI Listing
September 2014

Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:
Iosif Lazaridis Nick Patterson Alissa Mittnik Gabriel Renaud Swapan Mallick Karola Kirsanow Peter H Sudmant Joshua G Schraiber Sergi Castellano Mark Lipson Bonnie Berger Christos Economou Ruth Bollongino Qiaomei Fu Kirsten I Bos Susanne Nordenfelt Heng Li Cesare de Filippo Kay Prüfer Susanna Sawyer Cosimo Posth Wolfgang Haak Fredrik Hallgren Elin Fornander Nadin Rohland Dominique Delsate Michael Francken Jean-Michel Guinet Joachim Wahl George Ayodo Hamza A Babiker Graciela Bailliet Elena Balanovska Oleg Balanovsky Ramiro Barrantes Gabriel Bedoya Haim Ben-Ami Judit Bene Fouad Berrada Claudio M Bravi Francesca Brisighelli George B J Busby Francesco Cali Mikhail Churnosov David E C Cole Daniel Corach Larissa Damba George van Driem Stanislav Dryomov Jean-Michel Dugoujon Sardana A Fedorova Irene Gallego Romero Marina Gubina Michael Hammer Brenna M Henn Tor Hervig Ugur Hodoglugil Aashish R Jha Sena Karachanak-Yankova Rita Khusainova Elza Khusnutdinova Rick Kittles Toomas Kivisild William Klitz Vaidutis Kučinskas Alena Kushniarevich Leila Laredj Sergey Litvinov Theologos Loukidis Robert W Mahley Béla Melegh Ene Metspalu Julio Molina Joanna Mountain Klemetti Näkkäläjärvi Desislava Nesheva Thomas Nyambo Ludmila Osipova Jüri Parik Fedor Platonov Olga Posukh Valentino Romano Francisco Rothhammer Igor Rudan Ruslan Ruizbakiev Hovhannes Sahakyan Antti Sajantila Antonio Salas Elena B Starikovskaya Ayele Tarekegn Draga Toncheva Shahlo Turdikulova Ingrida Uktveryte Olga Utevska René Vasquez Mercedes Villena Mikhail Voevoda Cheryl A Winkler Levon Yepiskoposyan Pierre Zalloua Tatijana Zemunik Alan Cooper Cristian Capelli Mark G Thomas Andres Ruiz-Linares Sarah A Tishkoff Lalji Singh Kumarasamy Thangaraj Richard Villems David Comas Rem Sukernik Mait Metspalu Matthias Meyer Evan E Eichler Joachim Burger Montgomery Slatkin Svante Pääbo Janet Kelso David Reich Johannes Krause

Nature 2014 Sep;513(7518):409-13

1] Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany. [3] Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.

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https://genetics.med.harvard.edu/reich/Reich_Lab/Welcome_fil
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http://biorxiv.org/content/biorxiv/early/2013/12/23/001552.f
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http://www.geo.uni-tuebingen.de/fileadmin/website/arbeitsber
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http://www.nature.com/doifinder/10.1038/nature13673
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http://dx.doi.org/10.1038/nature13673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574PMC
September 2014

Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.

J Clin Endocrinol Metab 2014 Jul 14;99(7):E1311-5. Epub 2014 Apr 14.

Departments of Medicine, Physiology, and Human Genetics (G.N.H., L.C.), McGill University, and Calcium Research Laboratory and Hormones and Cancer Research Unit (G.N.H., L.C.), Royal Victoria Hospital, Montreal, Québec, Canada H3A 1A1; Department of Pediatrics (R.S.N.), University of California, San Diego, and Rady Children's Hospital San Diego, San Diego, California 92123; Diabetes and Endocrinology Unit (L.T.-S.), Hillel Yaffe Medical Center, Hadera 38100, Israel; and Departments of Laboratory Medicine and Pathobiology, Medicine, and Genetics (B.Y.L.W, B.S.P.L., D.E.C.C.), University of Toronto, Toronto, Ontario, Canada M4N 3M5.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-1120DOI Listing
July 2014

Effect of vitamin D-binding protein genotype on the development of asthma in children.

Ann Allergy Asthma Immunol 2014 Jun 16;112(6):519-24. Epub 2014 Apr 16.

Section of Respiratory Medicine, Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut. Electronic address:

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http://dx.doi.org/10.1016/j.anai.2014.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070170PMC
June 2014

In healthy adults, biological activity of vitamin D, as assessed by serum PTH, is largely independent of DBP concentrations.

J Bone Miner Res 2014 Feb;29(2):494-9

Department of Human Genetics and Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/jbmr.2042
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http://dx.doi.org/10.1002/jbmr.2042DOI Listing
February 2014

Genetic defects associated with familial and sporadic hyperparathyroidism.

Front Horm Res 2013 19;41:149-65. Epub 2013 Mar 19.

Departments of Medicine, Physiology and Human Genetics, McGill University, and Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada. geoffrey.hendy @ mcgill.ca

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http://dx.doi.org/10.1159/000345675DOI Listing
December 2013

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

J Clin Endocrinol Metab 2013 Dec;98(12):4666-9

PhD, Calcium Research Laboratory, Room H4.67, Royal Victoria Hospital, 687 Pine Avenue West, Montreal, H3A 1A1, Canada.

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http://dx.doi.org/10.1210/jc.2013-3616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849666PMC
December 2013

Common variants of the vitamin D binding protein gene and adverse health outcomes.

Crit Rev Clin Lab Sci 2013 Jan-Feb;50(1):1-22. Epub 2013 Feb 22.

Office of Biotechnology, Genomics and Population Health, Public Health Agency of Canada, Toronto, ON, Canada.

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http://dx.doi.org/10.3109/10408363.2012.750262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613945PMC
September 2013

The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.

Best Pract Res Clin Endocrinol Metab 2013 Jun 27;27(3):285-301. Epub 2013 Mar 27.

Calcium Research Laboratory, and Hormones and Cancer Research Unit, Royal Victoria Hospital and McGill University Health Centre, Montreal, QC H3A 1A1, Canada.

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http://dx.doi.org/10.1016/j.beem.2013.02.009DOI Listing
June 2013

Genotype-based association analysis using discordant pairs: a penetrance odds ratio approach.

Ann Hum Genet 2013 Mar 31;77(2):137-46. Epub 2013 Jan 31.

Mathematics & Statistics, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://doi.wiley.com/10.1111/ahg.12002
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http://dx.doi.org/10.1111/ahg.12002DOI Listing
March 2013

Vitamin D binding protein is a key determinant of 25-hydroxyvitamin D levels in infants and toddlers.

J Bone Miner Res 2013 Jan;28(1):213-21

Department of Pediatrics (Endocrinology), Yale University School of Medicine, New Haven, CT 06520-8064, USA.

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http://dx.doi.org/10.1002/jbmr.1735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511814PMC
January 2013

Evaluation of the warfarin-resistance polymorphism, VKORC1 Asp36Tyr, and its effect on dosage algorithms in a genetically heterogeneous anticoagulant clinic.

Clin Biochem 2012 Apr 13;45(6):397-401. Epub 2012 Jan 13.

Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.01.002DOI Listing
April 2012

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

J Clin Endocrinol Metab 2012 Feb 23;97(2):E268-74. Epub 2011 Nov 23.

Division of Endocrinology, Children's Hospital Boston, Clinical Investigator Training Program, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1210/jc.2011-1972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275367PMC
February 2012

Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children.

Am J Clin Nutr 2012 Jan 14;95(1):137-46. Epub 2011 Dec 14.

Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520-8064, USA.

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http://dx.doi.org/10.3945/ajcn.111.018721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238457PMC
January 2012

Association of vitamin D binding protein (VDBP) polymorphisms and serum 25(OH)D concentrations in a sample of young Canadian adults of different ancestry.

J Steroid Biochem Mol Biol 2011 Nov 12;127(3-5):405-12. Epub 2011 Jun 12.

Department of Anthropology, University of Toronto at Mississauga, 3359 Mississauga Road North, Mississauga, Ontario L5L 1C6, Canada.

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http://dx.doi.org/10.1016/j.jsbmb.2011.05.009DOI Listing
November 2011

Mild infantile hypercalcemia: diagnostic tests and outcomes.

J Pediatr 2011 Aug 17;159(2):215-21.e1. Epub 2011 Mar 17.

Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2011.01.035DOI Listing
August 2011

Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario.

Cancer Epidemiol Biomarkers Prev 2011 Aug 21;20(8):1708-17. Epub 2011 Jun 21.

Prevention and Cancer Control, Cancer Care Ontario, Toronto, ON, Canada.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0300DOI Listing
August 2011

Neonatal severe hyperparathyroidism: further clinical and molecular delineation.

Eur J Pediatr 2011 May 23;170(5):625-31. Epub 2010 Oct 23.

Section of Pediatric Endocrinology, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1007/s00431-010-1335-zDOI Listing
May 2011

Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.

J Clin Endocrinol Metab 2011 Apr 2;96(4):E707-12. Epub 2011 Feb 2.

The Center for Endocrinology, Diabetes, and Metabolism at Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, California 90027, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2010-1306DOI Listing
April 2011

Serum 25-hydroxyvitamin D concentrations fluctuate seasonally in young adults of diverse ancestry living in Toronto.

J Nutr 2010 Dec 27;140(12):2213-20. Epub 2010 Oct 27.

Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada.

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https://academic.oup.com/jn/article/140/12/2213/4630630
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http://dx.doi.org/10.3945/jn.110.126284DOI Listing
December 2010

High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.

Bone 2010 Nov 30;47(5):975-81. Epub 2010 Jul 30.

Centre de Recherche de l'Hôpital St-François d'Assise du Centre hospitalier universitaire de Québec, Québec, Canada G1L 3L5.

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http://dx.doi.org/10.1016/j.bone.2010.06.030DOI Listing
November 2010

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

J Pediatr Endocrinol Metab 2010 Sep;23(9):975-9

Department of Paediatrics, University of Calgary, Alberta, Canada.

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http://dx.doi.org/10.1515/jpem.2010.156DOI Listing
September 2010

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

J Clin Endocrinol Metab 2010 Apr 17;95(4):1819-29. Epub 2010 Feb 17.

Departments of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada M5G 1L5.

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http://dx.doi.org/10.1210/jc.2008-2430DOI Listing
April 2010

Attributing Hardy-Weinberg disequilibrium to population stratification and genetic association in case-control studies.

Ann Hum Genet 2010 Jan 20;74(1):77-87. Epub 2009 Nov 20.

Department Mathematics and Statistics, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://doi.wiley.com/10.1111/j.1469-1809.2009.00552.x
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http://dx.doi.org/10.1111/j.1469-1809.2009.00552.xDOI Listing
January 2010

Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus.

Clin Chim Acta 2009 Nov 18;409(1-2):28-32. Epub 2009 Aug 18.

Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cca.2009.08.007DOI Listing
November 2009

Sporadic and MEN1-related primary hyperparathyroidism: differences in clinical expression and severity.

J Bone Miner Res 2009 Aug;24(8):1404-10

Unit of Endocrinology-Diabetology, Department of Medical Sciences, University of Milan, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS, Milan, Italy.

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http://dx.doi.org/10.1359/jbmr.090304DOI Listing
August 2009

The (mis) use of bone resorption markers in the context of bisphosphonate exposure, dental surgery and osteonecrosis of the jaw.

Clin Biochem 2009 Jul 2;42(10-11):1194-6. Epub 2009 Mar 2.

Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S000991200900101
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http://dx.doi.org/10.1016/j.clinbiochem.2009.02.014DOI Listing
July 2009

Common genetic variants of the vitamin D binding protein (DBP) predict differences in response of serum 25-hydroxyvitamin D [25(OH)D] to vitamin D supplementation.

Clin Biochem 2009 Jul 18;42(10-11):1174-7. Epub 2009 Mar 18.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada M5G 1L5.

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http://dx.doi.org/10.1016/j.clinbiochem.2009.03.008DOI Listing
July 2009

Altered calcium metabolism in patients on long-term bisphosphonate therapy for metastatic breast cancer.

Anticancer Res 2009 Jul;29(7):2707-11

Division of Medical Oncology Sunnybrook Health Sciences Centre Odette Cancer Centre Toronto, Ontario, Canada.

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July 2009

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

J Mol Endocrinol 2009 Apr 29;42(4):331-9. Epub 2009 Jan 29.

Departments of Laboratory Medicine and Pathobiology, Medicine, and Genetics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1677/JME-08-0164DOI Listing
April 2009

Vitamin B-12 and neural tube defects: the Canadian experience.

Am J Clin Nutr 2009 Feb 30;89(2):697S-701S. Epub 2008 Dec 30.

Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.3945/ajcn.2008.26947BDOI Listing
February 2009

Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.

Hum Mutat 2009 Jan;30(1):85-92

Department of Medicine, McGill University, and Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/humu.20827DOI Listing
January 2009

Pharmacogenomics of G protein-coupled receptor signaling: insights from health and disease.

Methods Mol Biol 2008 ;448:77-107

Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/978-1-59745-205-2_6DOI Listing
May 2008

G protein-coupled receptors disrupted in human genetic disease.

Methods Mol Biol 2008 ;448:109-37

Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, Toronto, Ontario, Canada.

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http://link.springer.com/10.1007/978-1-59745-205-2_7
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http://dx.doi.org/10.1007/978-1-59745-205-2_7DOI Listing
May 2008

G protein-coupled receptor pharmacogenetics.

Methods Mol Biol 2008 ;448:139-85

Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/978-1-59745-205-2_8DOI Listing
May 2008

Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant.

Pediatrics 2007 Nov;120(5):e1350-4

Department of Paediatrics and Child Health, Wellington Hospital, Capital and Coast District Health Board, Wellington, New Zealand.

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http://dx.doi.org/10.1542/peds.2006-3209DOI Listing
November 2007

Evaluation of bone and mineral disorders.

Pediatr Endocrinol Rev 2007 Oct;5 Suppl 1:584-98

Department of Pediatrics (Endocrinology), Yale University School of Medicine, New Haven, CT, USA.

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October 2007

Metabolic syndrome features and risk of neural tube defects.

BMC Pregnancy Childbirth 2007 Sep 19;7:21. Epub 2007 Sep 19.

Department of Medicine, St, Michael's Hospital, University of Toronto, 30 Bond Street, Toronto, Ontario, M5B 1W8, Canada.

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http://dx.doi.org/10.1186/1471-2393-7-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2039731PMC
September 2007

Urinary N-telopeptide is a rapid predictor of response to and palliative benefit from bisphosphonate therapy in patients with metastatic breast cancer.

Support Cancer Ther 2007 Sep;4(4):182-7

Division of Medical Oncology, Princess Margaret Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.3816/SCT.2007.n.013DOI Listing
September 2007

Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: critical update and emerging trends.

Med Res Rev 2007 Jul;27(4):469-527

Department of Pharmacological Sciences, University of Milan, Via Balzaretti 9, 20133 Milan, Italy.

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http://dx.doi.org/10.1002/med.20071DOI Listing
July 2007

Update on parathyroid hormone: new tests and new challenges for external quality assessment.

Clin Biochem 2007 Jun 6;40(9-10):585-90. Epub 2007 Apr 6.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.03.019DOI Listing
June 2007

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

Clin Biochem 2007 May 18;40(8):551-61. Epub 2007 Jan 18.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2006.12.011DOI Listing
May 2007

Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population.

Epidemiology 2007 May;18(3):362-6

Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/01.ede.0000257063.77411.e9DOI Listing
May 2007

Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density.

J Clin Endocrinol Metab 2007 Feb 7;92(2):725-8. Epub 2006 Nov 7.

Endocrine Research Laboratory, Room 415/1, McGill University Health Centre-Montreal Children's Hospital Research Institute, 4060 Ste Catherine Street West, Montreal, Quebec, Canada H3Z 2Z3.

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http://dx.doi.org/10.1210/jc.2006-1695DOI Listing
February 2007

G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective.

Mol Diagn Ther 2006 ;10(6):353-66

Department of Laboratory Medicine and Pathobiology, University of Toronto, and Department of Medical Genetics and Microbiology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/BF03256212DOI Listing
February 2007

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

Clin J Am Soc Nephrol 2007 Jan 25;2(1):31-7. Epub 2006 Oct 25.

Division of Nephrology, Toronto General Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada.

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http://cjasn.asnjournals.org/cgi/doi/10.2215/CJN.02690806
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http://dx.doi.org/10.2215/CJN.02690806DOI Listing
January 2007

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

J Natl Cancer Inst 2006 Dec;98(23):1694-706

Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College St., PO Box 208034, New Haven, CT 06520-8034, USA.

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http://academic.oup.com/jnci/article/98/23/1694/2521899/Popu
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http://dx.doi.org/10.1093/jnci/djj465DOI Listing
December 2006

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

J Clin Endocrinol Metab 2006 Aug 23;91(8):2827-32. Epub 2006 May 23.

Unit of Endocrinology, Casa Sollievo della Sofferenza Hospital, Instituto di Ricovero e Cura a Carattere Scientifico, 71013 San Giovanni Rotondo (FG), Italy.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2005-1239DOI Listing
August 2006

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

J Clin Endocrinol Metab 2006 Jul 11;91(7):2474-9. Epub 2006 Apr 11.

Division of Endocrinology, Diabetes, and Metabolism, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Mail Stop Number 61, Los Angeles, California 90027, USA.

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http://dx.doi.org/10.1210/jc.2005-2605DOI Listing
July 2006

Frequency of CYP2C9 polymorphisms affecting warfarin metabolism in a large anticoagulant clinic cohort.

Clin Biochem 2006 Jun 21;39(6):606-12. Epub 2006 Apr 21.

School of Pharmacy, Texas Tech University Health Sciences Center, Amarillo, TX 79106, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000991200600051
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http://dx.doi.org/10.1016/j.clinbiochem.2006.01.023DOI Listing
June 2006

Can bone markers guide more effective treatment of bone metastases from breast cancer?

Breast Cancer Res Treat 2006 May 1;97(1):81-90. Epub 2005 Dec 1.

Division of Medical Oncology, Sunnybrook and Women's College Health Sciences Centre, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/s10549-005-9094-7DOI Listing
May 2006

A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women.

Hum Genet 2006 May 1;119(4):416-21. Epub 2006 Mar 1.

Department of Endocrinology, Istituto di Ricovero, Ospedale Casa Sollievo della Soffrenza, San Giovanni Rotondo, Italy.

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http://link.springer.com/10.1007/s00439-006-0155-8
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http://dx.doi.org/10.1007/s00439-006-0155-8DOI Listing
May 2006

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

Pediatr Neurol 2006 Apr;34(4):303-7

Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.020DOI Listing
April 2006

The G protein-coupled receptors: pharmacogenetics and disease.

Crit Rev Clin Lab Sci 2005 ;42(4):311-92

Department of Laboratory Medicine and Pathobiology, Banting Institute, University of Toronto, ON, Canada.

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http://dx.doi.org/10.1080/10408360591001895DOI Listing
December 2005

Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing.

J Pediatr 2005 Sep;147(3):312-5

The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2005.06.043DOI Listing
September 2005