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Items: 1 to 50 of 101

1.

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.

Brown MA, Duncan EL, Evans DM.

N Engl J Med. 2019 Jun 27;380(26):2583. doi: 10.1056/NEJMc1905282. No abstract available.

PMID:
31242373
2.

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life. Diabetes Care 2019;42:69-76.

Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL.

Diabetes Care. 2019 May;42(5):e79-e80. doi: 10.2337/dci19-0010. No abstract available.

PMID:
31010948
3.

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA.

J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1.

4.

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.

Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL.

Diabetes Care. 2019 Jan;42(1):69-76. doi: 10.2337/dc18-0261. Epub 2018 Dec 6.

PMID:
30523035
5.

Atypical Femoral Fracture: A Fascinating Story in Evolution.

Duncan EL.

J Bone Miner Res. 2018 Dec;33(12):2089-2090. doi: 10.1002/jbmr.3629. Epub 2018 Nov 29. No abstract available.

PMID:
30496611
6.

Bayesian approach to determining penetrance of pathogenic SDH variants.

Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, Field M, Clifton-Bligh RJ.

J Med Genet. 2018 Nov;55(11):729-734. doi: 10.1136/jmedgenet-2018-105427. Epub 2018 Sep 10.

7.

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL.

Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14.

PMID:
30191644
8.

HLA and KIR Associations of Cervical Neoplasia.

Bao X, Hanson AL, Madeleine MM, Wang SS, Schwartz SM, Newell F, Pettersson-Kymmer U, Hemminki K, Tiews S, Steinberg W, Rader JS, Castro F, Safaeian M, Franco EL, Coutlée F, Ohlsson C, Cortes A, Marshall M, Mukhopadhyay P, Cremin K, Johnson LG, Garland SM, Tabrizi SN, Wentzensen N, Sitas F, Trimble C, Little J, Cruickshank M, Frazer IH, Hildesheim A, Brown MA, Duncan EL, Sun YP, Leo PJ.

J Infect Dis. 2018 Nov 5;218(12):2006-2015. doi: 10.1093/infdis/jiy483.

PMID:
30099516
9.

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC, Pederson S, Singhal D, Samaraweera SE, Nguyen T, Cildir G, Marshall M, Ewing A, Duncan EL, Brown MA, Saal R, Tergaonkar V, To LB, Marlton P, Gill D, Lewis I, Deans AJ, Brown AL, D'Andrea RJ, Gonda TJ.

Blood Cancer J. 2018 Jun 1;8(6):50. doi: 10.1038/s41408-018-0090-7. No abstract available.

10.

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.

Gregson CL, Newell F, Leo PJ, Clark GR, Paternoster L, Marshall M, Forgetta V, Morris JA, Ge B, Bao X, Duncan Bassett JH, Williams GR, Youlten SE, Croucher PI, Davey Smith G, Evans DM, Kemp JP, Brown MA, Tobias JH, Duncan EL.

Bone. 2018 Sep;114:62-71. doi: 10.1016/j.bone.2018.06.001. Epub 2018 Jun 5.

11.

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family.

Johnson SR, Leo P, Conwell LS, Harris M, Brown MA, Duncan EL.

J Diabetes. 2018 Sep;10(9):764-767. doi: 10.1111/1753-0407.12778. Epub 2018 Jun 13. No abstract available.

PMID:
29726111
12.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH.

J Bone Miner Res. 2018 Jul;33(7):1260-1271. doi: 10.1002/jbmr.3424. Epub 2018 Apr 18.

13.

A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms.

Johnson SR, McGown I, Oppermann U, Conwell LS, Harris M, Duncan EL.

Pediatr Diabetes. 2018 Aug;19(5):905-909. doi: 10.1111/pedi.12679. Epub 2018 May 22.

PMID:
29633446
14.

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Szot JO, Cuny H, Blue GM, Humphreys DT, Ip E, Harrison K, Sholler GF, Giannoulatou E, Leo P, Duncan EL, Sparrow DB, Ho JWK, Graham RM, Pachter N, Chapman G, Winlaw DS, Dunwoodie SL.

Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978.

PMID:
29555671
15.

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

Johnson SR, Leo PJ, McInerney-Leo AM, Anderson LK, Marshall M, McGown I, Newell F, Brown MA, Conwell LS, Harris M, Duncan EL.

Pediatr Diabetes. 2018 Jun;19(4):656-662. doi: 10.1111/pedi.12638. Epub 2018 Feb 8.

PMID:
29417725
16.

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

McInerney-Leo AM, Wheeler L, Sturm RA, Tan JM, Harris JE, Anderson L, Jagirdar K, Brown MA, Leo PJ, Soyer HP, Duncan EL.

Br J Dermatol. 2018 Apr;178(4):e263-e264. doi: 10.1111/bjd.16275. Epub 2018 Feb 19. No abstract available.

PMID:
29278422
17.

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.

Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH.

Ann Rheum Dis. 2018 Mar;77(3):378-385. doi: 10.1136/annrheumdis-2017-212469. Epub 2017 Nov 23.

18.

The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus.

Achong N, Duncan EL, McIntyre HD, Callaway L.

Diabetes Res Clin Pract. 2018 Jan;135:93-101. doi: 10.1016/j.diabres.2017.11.005. Epub 2017 Nov 14. Review.

PMID:
29154913
19.

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery.

English K, Inder WJ, Weedon Z, Dimeski G, Sorbello J, Russell AW, Duncan EL, Cuneo R.

Clin Endocrinol (Oxf). 2017 Sep;87(3):312. doi: 10.1111/cen.13428. No abstract available.

PMID:
28815741
20.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL.

N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361.

21.

Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders.

Lazarus S, Tseng HW, Lawrence F, Woodruff MA, Duncan EL, Pettit AR.

Am J Pathol. 2017 Sep;187(9):1923-1934. doi: 10.1016/j.ajpath.2017.05.007. Epub 2017 Jul 1.

PMID:
28675805
22.

Is there a role or target value for nutritional vitamin D in chronic kidney disease?

Lim WH, Duncan EL.

Nephrology (Carlton). 2017 Mar;22 Suppl 2:57-64. doi: 10.1111/nep.13027. Review.

23.

Conclusions and future directions: 'The known unknowns ….'

Duncan EL.

Nephrology (Carlton). 2017 Mar;22 Suppl 2:70-71. doi: 10.1111/nep.13035. No abstract available.

PMID:
28429553
24.

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL.

Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19.

PMID:
28422394
25.

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.

Flynn A, Dwight T, Benn D, Deb S, Colebatch AJ, Fox S, Harris J, Duncan EL, Robinson B, Hogg A, Ellul J, To H, Duong C, Miller JA, Yates C, James P, Trainer A, Gill AJ, Clifton-Bligh R, Hicks RJ, Tothill RW.

J Pathol. 2017 Jul;242(3):273-283. doi: 10.1002/path.4900. Epub 2017 May 13.

PMID:
28369925
26.

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery.

English K, Inder WJ, Weedon Z, Dimeski G, Sorbello J, Russell AW, Duncan EL, Cuneo R.

Clin Endocrinol (Oxf). 2017 Jul;87(1):35-43. doi: 10.1111/cen.13334. Epub 2017 Apr 19. Erratum in: Clin Endocrinol (Oxf). 2017 Sep;87(3):312.

PMID:
28329436
27.

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE.

Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22.

28.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

29.

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.

Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA, Stebbings S, Harrison AA; Australian Osteoporosis Genetics Consortium; Wellcome Trust Case Control Consortium; Management Committee; Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee, Duncan EL, Evans DM, Wordsworth PB, Brown MA.

NPJ Genom Med. 2016 May 4;1:16008. doi: 10.1038/npjgenmed.2016.8. eCollection 2016.

30.

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C.

Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.

31.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V.

J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.

PMID:
27068007
32.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL.

Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6.

PMID:
27038415
33.

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma.

Flynn A, Dwight T, Harris J, Benn D, Zhou L, Hogg A, Catchpoole D, James P, Duncan EL, Trainer A, Gill AJ, Clifton-Bligh R, Hicks RJ, Tothill RW.

J Clin Endocrinol Metab. 2016 Mar;101(3):1034-43. doi: 10.1210/jc.2015-3889. Epub 2016 Jan 21.

PMID:
26796762
34.

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.

Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA; Wellcome Trust Case Control Consortium; Australasian Osteoporosis Genetics Consortium (AOGC), Stebbings S, Harrison AA, Evans DM, Duncan EL, Wordsworth BP, Brown MA; Australasian Osteoporosis Genetics Consortium AOGC.

Genes Immun. 2016 Jan-Feb;17(1):46-51. doi: 10.1038/gene.2015.49. Epub 2015 Nov 26.

PMID:
26610302
35.

Glycaemic behaviour during breastfeeding in women with Type 1 diabetes.

Achong N, McIntyre HD, Callaway L, Duncan EL.

Diabet Med. 2016 Jul;33(7):947-55. doi: 10.1111/dme.12993. Epub 2015 Nov 14.

PMID:
26479263
36.

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB.

Nature. 2015 Oct 1;526(7571):112-7. doi: 10.1038/nature14878. Epub 2015 Sep 14.

37.

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Williams KL, McCann EP, Fifita JA, Zhang K, Duncan EL, Leo PJ, Marshall M, Rowe DB, Nicholson GA, Blair IP.

Neurobiol Aging. 2015 Dec;36(12):3334.e1-3334.e5. doi: 10.1016/j.neurobiolaging.2015.08.013. Epub 2015 Aug 18.

PMID:
26350399
38.

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.

Gregson CL, Wheeler L, Hardcastle SA, Appleton LH, Addison KA, Brugmans M, Clark GR, Ward KA, Paggiosi M, Stone M, Thomas J, Agarwal R, Poole KE, McCloskey E, Fraser WD, Williams E, Bullock AN, Davey Smith G, Brown MA, Tobias JH, Duncan EL.

J Bone Miner Res. 2016 Mar;31(3):640-9. doi: 10.1002/jbmr.2706. Epub 2015 Oct 6.

39.

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.

Niu T, Liu N, Yu X, Zhao M, Choi HJ, Leo PJ, Brown MA, Zhang L, Pei YF, Shen H, He H, Fu X, Lu S, Chen XD, Tan LJ, Yang TL, Guo Y, Cho NH, Shen J, Guo YF, Nicholson GC, Prince RL, Eisman JA, Jones G, Sambrook PN, Tian Q, Zhu XZ, Papasian CJ, Duncan EL, Uitterlinden AG, Shin CS, Xiang S, Deng HW.

J Bone Miner Res. 2016 Feb;31(2):358-68. doi: 10.1002/jbmr.2687. Epub 2015 Sep 11.

40.

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.

Niu T, Liu N, Zhao M, Xie G, Zhang L, Li J, Pei YF, Shen H, Fu X, He H, Lu S, Chen XD, Tan LJ, Yang TL, Guo Y, Leo PJ, Duncan EL, Shen J, Guo YF, Nicholson GC, Prince RL, Eisman JA, Jones G, Sambrook PN, Hu X, Das PM, Tian Q, Zhu XZ, Papasian CJ, Brown MA, Uitterlinden AG, Wang YP, Xiang S, Deng HW.

Hum Mol Genet. 2015 Aug 15;24(16):4710-27. doi: 10.1093/hmg/ddv144. Epub 2015 May 4.

41.

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

Loh NY, Neville MJ, Marinou K, Hardcastle SA, Fielding BA, Duncan EL, McCarthy MI, Tobias JH, Gregson CL, Karpe F, Christodoulides C.

Cell Metab. 2015 Feb 3;21(2):262-273. doi: 10.1016/j.cmet.2015.01.009.

42.

The genetics of osteoporosis.

Clark GR, Duncan EL.

Br Med Bull. 2015 Mar;113(1):73-81. doi: 10.1093/bmb/ldu042. Epub 2015 Jan 29. Review.

PMID:
25634850
43.

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL.

Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17.

PMID:
25492405
44.

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL.

Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24.

PMID:
25343988
45.

Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy.

Peeters G, Tett SE, Duncan EL, Mishra GD, Dobson AJ.

Pharmacoepidemiol Drug Saf. 2014 Dec;23(12):1303-11. doi: 10.1002/pds.3703. Epub 2014 Aug 30.

PMID:
25174626
46.

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo AM, Duncan EL, Leo PJ, Gardiner B, Bradbury LA, Harris JE, Clark GR, Brown MA, Zankl A.

Clin Genet. 2015 Jul;88(1):49-55. doi: 10.1111/cge.12440. Epub 2014 Aug 15.

PMID:
24891183
47.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.

Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL.

BMC Musculoskelet Disord. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107.

48.

Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations.

Gregson CL, Poole KE, McCloskey EV, Duncan EL, Rittweger J, Fraser WD, Smith GD, Tobias JH.

J Clin Endocrinol Metab. 2014 Aug;99(8):2897-907. doi: 10.1210/jc.2013-3958. Epub 2014 Feb 25. Erratum in: J Clin Endocrinol Metab. 2015 Aug;100(8):3219. J Clin Endocrinol Metab. 2015 Aug;100(8):3219.

49.

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus.

Oei L, Estrada K, Duncan EL, Christiansen C, Liu CT, Langdahl BL, Obermayer-Pietsch B, Riancho JA, Prince RL, van Schoor NM, McCloskey E, Hsu YH, Evangelou E, Ntzani E, Evans DM, Alonso N, Husted LB, Valero C, Hernandez JL, Lewis JR, Kaptoge SK, Zhu K, Cupples LA, Medina-Gómez C, Vandenput L, Kim GS, Hun Lee S, Castaño-Betancourt MC, Oei EH, Martinez J, Daroszewska A, van der Klift M, Mellström D, Herrera L, Karlsson MK, Hofman A, Ljunggren Ö, Pols HA, Stolk L, van Meurs JB, Ioannidis JP, Zillikens MC, Lips P, Karasik D, Uitterlinden AG, Styrkarsdottir U, Brown MA, Koh JM, Richards JB, Reeve J, Ohlsson C, Ralston SH, Kiel DP, Rivadeneira F.

Bone. 2014 Feb;59:20-7.

50.

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL.

Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013.

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