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Items: 1 to 50 of 328

1.

Parathyroid carcinoma.

Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC.

Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):877-889. doi: 10.1016/j.beem.2018.11.002. Epub 2018 Dec 1. Review.

PMID:
30551989
2.

Stage Dependence, Cell-Origin Independence, and Prognostic Capacity of Serum Glycan Fucosylation, β1-4 Branching, β1-6 Branching, and α2-6 Sialylation in Cancer.

Ferdosi S, Rehder DS, Maranian P, Castle EP, Ho TH, Pass HI, Cramer DW, Anderson KS, Fu L, Cole DEC, Le T, Wu X, Borges CR.

J Proteome Res. 2018 Jan 5;17(1):543-558. doi: 10.1021/acs.jproteome.7b00672. Epub 2017 Nov 21.

3.

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

Cinque L, Sparaneo A, Salcuni AS, de Martino D, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy GN, Cole DEC, Scillitani A, Guarnieri V.

Endocr Connect. 2017 Nov;6(8):886-891. doi: 10.1530/EC-17-0207. Epub 2017 Nov 2.

4.

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC.

BMC Med Genet. 2017 Sep 13;18(1):99. doi: 10.1186/s12881-017-0459-7. No abstract available.

5.

Variance Formulae for Correlation Measures of Linkage Disequilibrium.

Roop ML, Cole DEC, Hamilton DC.

Hum Hered. 2016;82(1-2):75-85. doi: 10.1159/000479428. Epub 2017 Sep 8.

PMID:
28881353
6.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC.

BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0. Erratum in: BMC Med Genet. 2017 Sep 13;18(1):99.

7.

Novel association of MEN1 gene mutations with parathyroid carcinoma.

Cinque L, Sparaneo A, Cetani F, Coco M, Clemente C, Chetta M, Balsamo T, Battista C, Sanpaolo E, Pardi E, D'Agruma L, Marcocci C, Maiello E, Hendy GN, Cole DEC, Scillitani A, Guarnieri V.

Oncol Lett. 2017 Jul;14(1):23-30. doi: 10.3892/ol.2017.6162. Epub 2017 May 12.

8.

Association of Directly Measured Plasma Free 25(OH)D With Insulin Sensitivity and Secretion: The IRAS Family Study.

Lee CC, Young KA, Norris JM, Rotter JI, Liu Y, Lorenzo C, Wagenknecht LE, Cole DE, Haffner SM, Chen YI, Hanley AJ.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):2781-2788. doi: 10.1210/jc.2017-00039.

9.

Inhibition of B Cell Receptor Signaling by Ibrutinib in Primary CNS Lymphoma.

Lionakis MS, Dunleavy K, Roschewski M, Widemann BC, Butman JA, Schmitz R, Yang Y, Cole DE, Melani C, Higham CS, Desai JV, Ceribelli M, Chen L, Thomas CJ, Little RF, Gea-Banacloche J, Bhaumik S, Stetler-Stevenson M, Pittaluga S, Jaffe ES, Heiss J, Lucas N, Steinberg SM, Staudt LM, Wilson WH.

Cancer Cell. 2017 Jun 12;31(6):833-843.e5. doi: 10.1016/j.ccell.2017.04.012. Epub 2017 May 25.

10.

Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population.

Knight JA, Wong J, Cole DEC, Lee TK, Parra EJ.

Am J Epidemiol. 2017 Nov 15;186(10):1180-1193. doi: 10.1093/aje/kwx180.

11.

Traditional foods and 25(OH)D concentrations in a subarctic First Nations community.

Mansuri S, Badawi A, Kayaniyil S, Cole DE, Harris SB, Mamakeesick M, Wolever T, Gittelsohn J, Maguire JL, Connelly PW, Zinman B, Hanley AJ.

Int J Circumpolar Health. 2016 Jan;75(1):31956. doi: 10.3402/ijch.v75.31956.

12.

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

Thompson MD, Cole DE.

Hum Mutat. 2016 Jul;37(7):621. doi: 10.1002/humu.23016. No abstract available.

PMID:
27300081
13.

Vitamin D status in primary hyperparathyroidism: effect of genetic background.

Battista C, Guarnieri V, Carnevale V, Baorda F, Pileri M, Garrubba M, Salcuni AS, Chiodini I, Minisola S, Romagnoli E, Eller-Vainicher C, Santini SA, Parisi S, Frusciante V, Fontana A, Copetti M, Hendy GN, Scillitani A, Cole DE.

Endocrine. 2017 Jan;55(1):266-272. doi: 10.1007/s12020-016-0974-x. Epub 2016 May 6.

PMID:
27154872
14.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM.

Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19.

15.

Characterization of additional vitamin D binding protein variants.

Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE.

J Steroid Biochem Mol Biol. 2016 May;159:54-9. doi: 10.1016/j.jsbmb.2016.02.022. Epub 2016 Feb 23.

PMID:
26924582
16.

Vincristine Sulfate Liposomes Injection (VSLI, Marqibo®): Results From a Phase I Study in Children, Adolescents, and Young Adults With Refractory Solid Tumors or Leukemias.

Shah NN, Merchant MS, Cole DE, Jayaprakash N, Bernstein D, Delbrook C, Richards K, Widemann BC, Wayne AS.

Pediatr Blood Cancer. 2016 Jun;63(6):997-1005. doi: 10.1002/pbc.25937. Epub 2016 Feb 17.

PMID:
26891067
17.

Plasma and cerebrospinal fluid pharmacokinetics of vincristine and vincristine sulfate liposomes injection (VSLI, marqibo®) after intravenous administration in Non-human primates.

Shah NN, Cole DE, Lester-McCully CM, Wayne AS, Warren KE, Widemann BC.

Invest New Drugs. 2016 Feb;34(1):61-5. doi: 10.1007/s10637-015-0311-x. Epub 2015 Dec 10.

18.

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.

Cole DE, Thompson MD.

Subcell Biochem. 2015;76:343-61. doi: 10.1007/978-94-017-7197-9_16. Review.

PMID:
26219719
19.

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

Tenhola S, Hendy GN, Valta H, Canaff L, Lee BS, Wong BY, Välimäki MJ, Cole DE, Mäkitie O.

J Clin Endocrinol Metab. 2015 Jul;100(7):2515-8. doi: 10.1210/jc.2015-1518. Epub 2015 May 20.

PMID:
25993639
20.

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

Mansuri S, Badawi A, Kayaniyil S, Cole DE, Harris SB, Mamakeesick M, Maguire J, Zinman B, Connelly PW, Hanley AJ.

Diabetes Res Clin Pract. 2015 Aug;109(2):440-9. doi: 10.1016/j.diabres.2015.04.017. Epub 2015 Apr 20.

PMID:
25944538
21.

Hypoparathyroidism and Pseudohypoparathyroidism.

Hendy GN, Cole DEC, Bastepe M.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2017 Feb 19.

22.

Plasma and cerebrospinal fluid pharmacokinetics of the Akt inhibitor, perifosine, in a non-human primate model.

Cole DE, Lester-McCully CM, Widemann BC, Warren KE.

Cancer Chemother Pharmacol. 2015 May;75(5):923-8. doi: 10.1007/s00280-015-2711-1. Epub 2015 Mar 5.

23.

Serum voriconazole level variability in patients with hematological malignancies receiving voriconazole therapy.

Saini L, Seki JT, Kumar D, Atenafu EG, Cole DE, Wong BY, Božović A, Brandwein JM.

Can J Infect Dis Med Microbiol. 2014 Sep;25(5):271-6.

24.

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

Leong A, Rehman W, Dastani Z, Greenwood C, Timpson N, Langsetmo L, Berger C; METASTROKE, Fu L, Wong BY, Malik S, Malik R, Hanley DA, Cole DE, Goltzman D, Richards JB.

PLoS Med. 2014 Oct 28;11(10):e1001751. doi: 10.1371/journal.pmed.1001751. eCollection 2014 Oct.

25.

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

D'Agruma L, Coco M, Guarnieri V, Battista C, Canaff L, Salcuni AS, Corbetta S, Cetani F, Minisola S, Chiodini I, Eller-Vainicher C, Spada A, Marcocci C, Guglielmi G, Zini M, Clemente R, Wong BY, de Martino D, Scillitani A, Hendy GN, Cole DE.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2794-8. doi: 10.1210/jc.2014-2857.

PMID:
25279501
26.

Quantitative determination of mithramycin in human plasma by a novel, sensitive ultra-HPLC-MS/MS method for clinical pharmacokinetic application.

Roth J, Peer CJ, Widemann B, Cole DE, Ershler R, Helman L, Schrump D, Figg WD.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Nov 1;970:95-101. doi: 10.1016/j.jchromb.2014.08.021. Epub 2014 Sep 6.

27.

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

Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J.

Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.

28.

Pharmacogenetics of the G protein-coupled receptors.

Thompson MD, Cole DE, Capra V, Siminovitch KA, Rovati GE, Burnham WM, Rana BK.

Methods Mol Biol. 2014;1175:189-242. doi: 10.1007/978-1-4939-0956-8_9. Review.

PMID:
25150871
29.

G protein-coupled receptor mutations and human genetic disease.

Thompson MD, Hendy GN, Percy ME, Bichet DG, Cole DE.

Methods Mol Biol. 2014;1175:153-87. doi: 10.1007/978-1-4939-0956-8_8. Review.

PMID:
25150870
30.

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

Thompson MD, Cole DE, Jose PA, Chidiac P.

Methods Mol Biol. 2014;1175:121-52. doi: 10.1007/978-1-4939-0956-8_7. Review.

PMID:
25150869
31.

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

Eller-Vainicher C, Battista C, Guarnieri V, Muscarella S, Palmieri S, Salcuni AS, Guglielmi G, Corbetta S, Minisola S, Spada A, Hendy GN, Cole DE, Chiodini I, Scillitani A.

Eur J Endocrinol. 2014 Sep;171(3):399-406. doi: 10.1530/EJE-14-0343. Epub 2014 Jun 25.

PMID:
24966175
32.

Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.

Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Macrina L, Mingione A, Brasacchio C, Eller-Vainicher C, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L.

J Nephrol. 2015 Feb;28(1):67-72. doi: 10.1007/s40620-014-0106-8. Epub 2014 May 16.

PMID:
24832896
33.

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

Navas-Nazario A, Li FY, Shabanova V, Weiss P, Cole DE, Carpenter TO, Bazzy-Asaad A.

Ann Allergy Asthma Immunol. 2014 Jun;112(6):519-24. doi: 10.1016/j.anai.2014.03.017. Epub 2014 Apr 16.

34.

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Atay Z, Bereket A, Haliloglu B, Abali S, Ozdogan T, Altuncu E, Canaff L, Vilaça T, Wong BY, Cole DE, Hendy GN, Turan S.

Bone. 2014 Jul;64:102-7. doi: 10.1016/j.bone.2014.04.010. Epub 2014 Apr 13.

PMID:
24735972
35.

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

Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1311-5. doi: 10.1210/jc.2014-1120. Epub 2014 Apr 14.

PMID:
24731014
36.

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V.

PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013.

37.

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

Hendy GN, Cole DE.

J Clin Endocrinol Metab. 2013 Dec;98(12):4666-9. doi: 10.1210/jc.2013-3616. No abstract available.

38.

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

Dastani Z, Berger C, Langsetmo L, Fu L, Wong BY, Malik S, Goltzman D, Cole DE, Richards JB.

J Bone Miner Res. 2014 Feb;29(2):494-9. doi: 10.1002/jbmr.2042.

39.

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

Hendy GN, Canaff L, Cole DE.

Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):285-301. doi: 10.1016/j.beem.2013.02.009. Epub 2013 Mar 27. Review.

PMID:
23856260
40.

Genetic defects associated with familial and sporadic hyperparathyroidism.

Hendy GN, Cole DE.

Front Horm Res. 2013;41:149-65. doi: 10.1159/000345675. Epub 2013 Mar 19.

PMID:
23652676
41.

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

Malik S, Fu L, Juras DJ, Karmali M, Wong BY, Gozdzik A, Cole DE.

Crit Rev Clin Lab Sci. 2013 Jan-Feb;50(1):1-22. doi: 10.3109/10408363.2012.750262. Epub 2013 Feb 22. Review.

42.

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

Grover VK, Cole DE, Hamilton DC.

Ann Hum Genet. 2013 Mar;77(2):137-46. doi: 10.1111/ahg.12002. Epub 2013 Jan 31.

43.

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V, Battista C, Muscarella LA, Bisceglia M, de Martino D, Baorda F, Maiello E, D'Agruma L, Chiodini I, Clemente C, Minisola S, Romagnoli E, Corbetta S, Viti R, Eller-Vainicher C, Spada A, Iacobellis M, Malavolta N, Carella M, Canaff L, Hendy GN, Cole DE, Scillitani A.

Cell Oncol (Dordr). 2012 Dec;35(6):411-22. doi: 10.1007/s13402-012-0100-x. Epub 2012 Sep 18.

PMID:
22987117
44.

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

Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong BY, Cole DE.

J Bone Miner Res. 2013 Jan;28(1):213-21. doi: 10.1002/jbmr.1735.

45.

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE.

Am J Med Genet A. 2012 Mar;158A(3):553-8. doi: 10.1002/ajmg.a.35202. Epub 2012 Feb 7.

PMID:
22315194
46.

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

Shuen AY, Wong BY, Fu L, Selby R, Cole DE.

Clin Biochem. 2012 Apr;45(6):397-401. doi: 10.1016/j.clinbiochem.2012.01.002. Epub 2012 Jan 13.

PMID:
22266406
47.

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

Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole DE.

Am J Clin Nutr. 2012 Jan;95(1):137-46. doi: 10.3945/ajcn.111.018721. Epub 2011 Dec 14.

48.

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

Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN.

J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74. doi: 10.1210/jc.2011-1972. Epub 2011 Nov 23.

49.

A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.

Guarnieri V, Baorda F, Battista C, Bisceglia M, Balsamo T, Gruppioni E, Fiorentino M, Muscarella LA, Coco M, Barbano R, Corbetta S, Spada A, Cole DE, Canaff L, Hendy GN, Carella M, Scillitani A.

Endocrine. 2012 Feb;41(1):152-5. doi: 10.1007/s12020-011-9558-y. Epub 2011 Nov 18. No abstract available.

PMID:
22095489
50.

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

Anderson LN, Cotterchio M, Cole DE, Knight JA.

Cancer Epidemiol Biomarkers Prev. 2011 Aug;20(8):1708-17. doi: 10.1158/1055-9965.EPI-11-0300. Epub 2011 Jun 21. Erratum in: Cancer Epidemiol Biomarkers Prev. 2014 Jul;23(7):1440-2.

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