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ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, Swift M, Jung HM, Kaminski CN, Chiavacci R, Perkins JA, Levine MA, Sleiman PMA, Hicks PJ, Strausbaugh JT, Belasco JB, Dori Y, Hakonarson H.

Nat Med. 2019 Jul;25(7):1116-1122. doi: 10.1038/s41591-019-0479-2. Epub 2019 Jul 1.


Response to: Obesity and Vitamin D Metabolism Modifications.

Roizen JD, Levine MA.

J Bone Miner Res. 2019 May 29. doi: 10.1002/jbmr.3743. [Epub ahead of print] No abstract available.


Burosumab treatment of children with X-linked hypophosphataemic rickets.

Gordon RJ, Levine MA.

Lancet. 2019 Jun 15;393(10189):2364-2366. doi: 10.1016/S0140-6736(19)31054-2. Epub 2019 May 16. No abstract available.


Response to Letter to the Editor: Gestational Gigantomastia Complicated by PTHrP-Mediated Hypercalcemia.

Modarressi T, Levine MA, Khan AN.

J Clin Endocrinol Metab. 2019 Apr 12. pii: jc.2019-00820. doi: 10.1210/jc.2019-00820. [Epub ahead of print] No abstract available.


Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J.

J Hepatol. 2019 Apr 4. pii: S0168-8278(19)30220-X. doi: 10.1016/j.jhep.2019.03.026. [Epub ahead of print]


Obesity Decreases Hepatic 25-Hydroxylase Activity Causing Low Serum 25-Hydroxyvitamin D.

Roizen JD, Long C, Casella A, O'Lear L, Caplan I, Lai M, Sasson I, Singh R, Makowski AJ, Simmons R, Levine MA.

J Bone Miner Res. 2019 Feb 21:e3686. doi: 10.1002/jbmr.3686. [Epub ahead of print]


Pitfalls with Vitamin D Research in Musculoskeletal Disorders and Recommendations on How to Avoid Them

Kiebzak GM, Neal KM, Hossienzadeh P, Olney RC, Levine MA.

J Clin Res Pediatr Endocrinol. 2019 Feb 14. doi: 10.4274/jcrpe.galenos.2019.2019.0007. [Epub ahead of print]


The Coming of Age of Hypoparathyroidism: Novel Insights into Causation, Innovative Options for Management.

Levine MA.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):xv-xvi. doi: 10.1016/j.ecl.2018.09.001. No abstract available.



Linglart A, Levine MA, Jüppner H.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):865-888. doi: 10.1016/j.ecl.2018.07.011. Epub 2018 Oct 12. Review.


Genetic Disorders of Parathyroid Development and Function.

Gordon RJ, Levine MA.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):809-823. doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12. Review.


Does the medical literature remain inadequately described despite having reporting guidelines for 21 years? - A systematic review of reviews: an update.

Jin Y, Sanger N, Shams I, Luo C, Shahid H, Li G, Bhatt M, Zielinski L, Bantoto B, Wang M, Abbade LP, Nwosu I, Leenus A, Mbuagbaw L, Maaz M, Chang Y, Sun G, Levine MA, Adachi JD, Thabane L, Samaan Z.

J Multidiscip Healthc. 2018 Sep 27;11:495-510. doi: 10.2147/JMDH.S155103. eCollection 2018. Review.


Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

Li D, Gordon CT, Oufadem M, Amiel J, Kanwar HS, Bakay M, Wang T, Hakonarson H, Levine MA.

J Clin Endocrinol Metab. 2018 Nov 1;103(11):4023-4032. doi: 10.1210/jc.2018-01260.


Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J.

J Invest Dermatol. 2019 Feb;139(2):360-368. doi: 10.1016/j.jid.2018.07.030. Epub 2018 Aug 18.


Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ).

Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J.

Oncotarget. 2018 Jul 20;9(56):30721-30730. doi: 10.18632/oncotarget.10738. eCollection 2018 Jul 20.


Minimally important difference and predictors of change in quality of life in type 2 diabetes: A community-based survey in China.

Jin X, Liu GG, Gerstein HC, Levine MAH, Guan H, Li H, Xie F.

Diabetes Metab Res Rev. 2018 Nov;34(8):e3053. doi: 10.1002/dmrr.3053. Epub 2018 Aug 31.


Gestational Gigantomastia Complicated by PTHrP-Mediated Hypercalcemia.

Modarressi T, Levine MA, Tchou J, Khan AN.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3124-3130. doi: 10.1210/jc.2018-01181.


Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A.

Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review.


Decreased Serum 25-Hydroxyvitamin D in Aging Male Mice Is Associated With Reduced Hepatic Cyp2r1 Abundance.

Roizen JD, Casella A, Lai M, Long C, Tara Z, Caplan I, O'Lear L, Levine MA.

Endocrinology. 2018 Aug 1;159(8):3083-3089. doi: 10.1210/en.2017-03028.


Direct comparative effectiveness and safety between non-vitamin K antagonist oral anticoagulants for stroke prevention in nonvalvular atrial fibrillation: a systematic review and meta-analysis of observational studies.

Li G, Lip GYH, Holbrook A, Chang Y, Larsen TB, Sun X, Tang J, Mbuagbaw L, Witt DM, Crowther M, Thabane L, Levine MAH.

Eur J Epidemiol. 2019 Feb;34(2):173-190. doi: 10.1007/s10654-018-0415-7. Epub 2018 Jun 8.


Analysis of short-term treatment with the phosphodiesterase type 5 inhibitor tadalafil on long bone development in young rats.

Wang L, Jia H, Tower RJ, Levine MA, Qin L.

Am J Physiol Endocrinol Metab. 2018 Oct 1;315(4):E446-E453. doi: 10.1152/ajpendo.00130.2018. Epub 2018 Jun 19.


Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H.

Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218.


Global Health Engagement Playbooks: Aligning Tactics with Strategy Using Standardized Engagement Packages.

Levine MA, Lutz EA, Licina D.

Mil Med. 2018 Jun 13. doi: 10.1093/milmed/usy132. [Epub ahead of print] No abstract available.


Enhancing research publications and advancing scientific writing in health research collaborations: sharing lessons learnt from the trenches.

Li G, Jin Y, Mbuagbaw L, Dolovich L, Adachi JD, Levine MA, Cook D, Samaan Z, Thabane L.

J Multidiscip Healthc. 2018 May 17;11:245-254. doi: 10.2147/JMDH.S152681. eCollection 2018.


The impact of conjunctival flap method and drainage cannula diameter on bleb survival in the rabbit model.

Rodgers CD, Meyer AM, Rosenberg NC, Lukowski ZL, Schaefer JL, Martorana GM, Levine MA, Meyers CA, Sherwood MB.

PLoS One. 2018 May 24;13(5):e0196968. doi: 10.1371/journal.pone.0196968. eCollection 2018.


Item reduction and validation of the Chinese version of diabetes quality-of-life measure (DQOL).

Jin X, Liu GG, Gerstein HC, Levine MAH, Steeves K, Guan H, Li H, Xie F.

Health Qual Life Outcomes. 2018 Apr 27;16(1):78. doi: 10.1186/s12955-018-0905-z.


Aggregative Adherence and Intestinal Colonization by Enteroaggregative Escherichia coli Are Produced by Interactions among Multiple Surface Factors.

Blanton LV, Wang LT, Hofmann J, DuBow J, Lafrance A, Kwak S, Bowers L, Levine MA, Hale CO, Meneely PM, Okeke IN.

mSphere. 2018 Mar 21;3(2). pii: e00078-18. doi: 10.1128/mSphere.00078-18. eCollection 2018 Mar-Apr.


MR-assisted PET motion correction in simultaneous PET/MRI studies of dementia subjects.

Chen KT, Salcedo S, Chonde DB, Izquierdo-Garcia D, Levine MA, Price JC, Dickerson BC, Catana C.

J Magn Reson Imaging. 2018 Nov;48(5):1288-1296. doi: 10.1002/jmri.26000. Epub 2018 Mar 8.


CYP3A4 mutation causes vitamin D-dependent rickets type 3.

Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA.

J Clin Invest. 2018 May 1;128(5):1913-1918. doi: 10.1172/JCI98680. Epub 2018 Apr 3.


Exploring the characteristics, global distribution and reasons for retraction of published articles involving human research participants: a literature survey.

Li G, Kamel M, Jin Y, Xu MK, Mbuagbaw L, Samaan Z, Levine MA, Thabane L.

J Multidiscip Healthc. 2018 Jan 18;11:39-47. doi: 10.2147/JMDH.S151745. eCollection 2018.


A systematic review of comparisons between protocols or registrations and full reports in primary biomedical research.

Li G, Abbade LPF, Nwosu I, Jin Y, Leenus A, Maaz M, Wang M, Bhatt M, Zielinski L, Sanger N, Bantoto B, Luo C, Shams I, Shahid H, Chang Y, Sun G, Mbuagbaw L, Samaan Z, Levine MAH, Adachi JD, Thabane L.

BMC Med Res Methodol. 2018 Jan 11;18(1):9. doi: 10.1186/s12874-017-0465-7.


A scoping review of comparisons between abstracts and full reports in primary biomedical research.

Li G, Abbade LPF, Nwosu I, Jin Y, Leenus A, Maaz M, Wang M, Bhatt M, Zielinski L, Sanger N, Bantoto B, Luo C, Shams I, Shahid H, Chang Y, Sun G, Mbuagbaw L, Samaan Z, Levine MAH, Adachi JD, Thabane L.

BMC Med Res Methodol. 2017 Dec 29;17(1):181. doi: 10.1186/s12874-017-0459-5. Review.


Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings.

Li G, Jin Y, Levine MAH, Hoyer-Kuhn H, Ward L, Adachi JD.

Acta Paediatr. 2018 Mar;107(3):534-537. doi: 10.1111/apa.14154. Epub 2017 Dec 8. No abstract available.


Complications in the 90-day postoperative period following kidney transplant and the relationship of the Charlson Comorbidity Index.

Levine MA, Schuler T, Gourishankar S.

Can Urol Assoc J. 2017 Dec;11(12):388-393. doi: 10.5489/cuaj.4378. Epub 2017 Nov 1.


Recombinant Human Parathyroid Hormone Effect on Health-Related Quality of Life in Adults With Chronic Hypoparathyroidism.

Vokes TJ, Mannstadt M, Levine MA, Clarke BL, Lakatos P, Chen K, Piccolo R, Krasner A, Shoback DM, Bilezikian JP.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):722-731. doi: 10.1210/jc.2017-01471.


Disorders of GNAS Inactivation.

Haldeman-Englert CR, Hurst ACE, Levine MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Oct 26.


A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Vogiatzi MG, Li D, Tian L, Garifallou JP, Kim CE, Hakonarson H, Levine MA.

Osteoporos Int. 2018 Jan;29(1):247-251. doi: 10.1007/s00198-017-4229-3. Epub 2017 Oct 3.


Proteasome inhibitor bortezomib is a novel therapeutic agent for focal radiation-induced osteoporosis.

Chandra A, Wang L, Young T, Zhong L, Tseng WJ, Levine MA, Cengel K, Liu XS, Zhang Y, Pignolo RJ, Qin L.

FASEB J. 2018 Jan;32(1):52-62. doi: 10.1096/fj.201700375R. Epub 2017 Aug 31.


Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.

Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127. Review.


Journalism Ethics and the Goldwater Rule in a "Post-Truth" Media World.

Levine MA.

J Am Acad Psychiatry Law. 2017 Jun;45(2):241-248.


Relationship between hyperbaric oxygen therapy and quality of life in participants with chronic diabetic foot ulcers: data from a randomized controlled trial.

Li G, Hopkins RB, Levine MAH, Jin X, Bowen JM, Thabane L, Goeree R, Fedorko L, O'Reilly DJ.

Acta Diabetol. 2017 Sep;54(9):823-831. doi: 10.1007/s00592-017-1012-z. Epub 2017 Jun 12.


Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA.

J Clin Endocrinol Metab. 2017 Jul 1;102(7):2501-2507. doi: 10.1210/jc.2017-00332. Review.


Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.

Ackermann AM, Levine MA.

Am J Med Genet A. 2017 Jul;173(7):1907-1912. doi: 10.1002/ajmg.a.38238. Epub 2017 Apr 24.


State of reporting of primary biomedical research: a scoping review protocol.

Li G, Mbuagbaw L, Samaan Z, Jin Y, Nwosu I, Levine MA, Adachi JD, Thabane L.

BMJ Open. 2017 Mar 29;7(3):e014749. doi: 10.1136/bmjopen-2016-014749. Review.


CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

Hawkes CP, Li D, Hakonarson H, Meyers KE, Thummel KE, Levine MA.

J Clin Endocrinol Metab. 2017 May 1;102(5):1440-1446. doi: 10.1210/jc.2016-4048.


Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA.

J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836.


A Practical Methodology for Disaggregating the Drivers of Drug Costs Using Administrative Data.

Lungu ER, Manti OJ, Levine MA, Clark DA, Potashnik TM, McKinley CI.

J Popul Ther Clin Pharmacol. 2017 Sep 1;24(1):16-24. doi: 10.22374/1710-6222.24.1.3.


Temporo-spacial microanatomical distribution of the murine sodium-dependent ascorbic acid transporters Slc23a1 and Slc23a2 in the kidney throughout development.

Eck PK, Corpe C, Levine MA.

Biochem Cell Biol. 2017 Jun;95(3):421-427. doi: 10.1139/bcb-2015-0090. Epub 2016 Dec 20.


Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.

Abraham MB, Li D, Tang D, O'Connell SM, McKenzie F, Lim EM, Hakonarson H, Levine MA, Choong CS.

Int J Pediatr Endocrinol. 2017;2017:1. doi: 10.1186/s13633-016-0041-7. Epub 2017 Jan 25.


An overview of osteoporosis and frailty in the elderly.

Li G, Thabane L, Papaioannou A, Ioannidis G, Levine MA, Adachi JD.

BMC Musculoskelet Disord. 2017 Jan 26;18(1):46. doi: 10.1186/s12891-017-1403-x. Review.


Modifying the Phenotypic Frailty Model in Predicting Risk of Major Osteoporotic Fracture in the Elderly.

Li G, Papaioannou A, Thabane L, Levine MAH, Ioannidis G, Wong AKO, Lau A, Adachi JD.

J Am Med Dir Assoc. 2017 May 1;18(5):414-419. doi: 10.1016/j.jamda.2016.11.015. Epub 2017 Jan 17.


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