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Items: 1 to 20 of 345


New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

Whyte MP, McAlister WH, Zhang F, Bijanki VN, Nenninger A, Gottesman GS, Lin EL, Huskey M, Duan S, Dahir K, Mumm S.

Bone. 2019 May 11;127:228-243. doi: 10.1016/j.bone.2019.05.003. [Epub ahead of print]


No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

Whyte MP, McAlister WH, Mumm S, Bierhals AJ.

Bone. 2019 May;122:231-236. doi: 10.1016/j.bone.2019.02.025. Epub 2019 Feb 28.


Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Frost M, Tencerova M, Andreasen CM, Andersen TL, Ejersted C, Svaneby D, Qui W, Kassem M, Zarei A, McAlister WH, Veis DJ, Whyte MP, Frederiksen AL.

Bone. 2019 Apr;121:243-254. doi: 10.1016/j.bone.2019.01.014. Epub 2019 Jan 16.


Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial.

Whyte MP, Simmons JH, Moseley S, Fujita KP, Bishop N, Salman NJ, Taylor J, Phillips D, McGinn M, McAlister WH.

Lancet Diabetes Endocrinol. 2019 Feb;7(2):93-105. doi: 10.1016/S2213-8587(18)30307-3. Epub 2018 Dec 14.


Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP, Deepak Amalnath S, McAlister WH, Pedapati R, Muthupillai V, Duan S, Huskey M, Bijanki VN, Mumm S.

Bone. 2018 Nov;116:321-332. doi: 10.1016/j.bone.2018.07.022. Epub 2018 Aug 2.


Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.

Whyte MP, Lim E, McAlister WH, Gottesman GS, Trinh L, Veis DJ, Bijanki VN, Boden MG, Nenninger A, Mumm S, Buchbinder D.

J Bone Miner Res. 2018 Nov;33(11):2071-2080. doi: 10.1002/jbmr.3532. Epub 2018 Jul 30.


Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Whyte MP, Fujita KP, Moseley S, Thompson DD, McAlister WH.

J Bone Miner Res. 2018 May;33(5):868-874. doi: 10.1002/jbmr.3377. Epub 2018 Feb 14.


Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Otaify GA, Whyte MP, Gottesman GS, McAlister WH, Eric Gordon J, Hollander A, Andrews MV, El-Mofty SK, Chen WS, Veis DV, Stolina M, Woo AS, Katsonis P, Lichtarge O, Zhang F, Shinawi M.

Bone. 2018 Feb;107:161-171. doi: 10.1016/j.bone.2017.11.012. Epub 2017 Nov 21.


Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Whyte MP, Griffith M, Trani L, Mumm S, Gottesman GS, McAlister WH, Krysiak K, Lesurf R, Skidmore ZL, Campbell KM, Rosman IS, Bayliss S, Bijanki VN, Nenninger A, Van Tine BA, Griffith OL, Mardis ER.

Bone. 2017 Aug;101:145-155. doi: 10.1016/j.bone.2017.04.010. Epub 2017 Apr 21.


Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S.

J Bone Miner Res. 2017 Apr;32(4):757-769. doi: 10.1002/jbmr.3034. Epub 2016 Dec 14.


Asfotase alfa therapy for children with hypophosphatasia.

Whyte MP, Madson KL, Phillips D, Reeves AL, McAlister WH, Yakimoski A, Mack KE, Hamilton K, Kagan K, Fujita KP, Thompson DD, Moseley S, Odrljin T, Rockman-Greenberg C.

JCI Insight. 2016 Jun 16;1(9):e85971. doi: 10.1172/jci.insight.85971.


Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

Tucci JR, Whitford GM, McAlister WH, Novack DV, Mumm S, Keaveny TM, Whyte MP.

J Bone Miner Res. 2017 Jan;32(1):188-195. doi: 10.1002/jbmr.2923. Epub 2016 Oct 14.


Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Gottesman GS, Madson KL, McAlister WH, Nenninger A, Wenkert D, Mumm S, Whyte MP.

Am J Med Genet A. 2016 Apr;170A(4):978-85. doi: 10.1002/ajmg.a.37536. Epub 2016 Jan 14. Review.


Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Phatarakijnirund V, Mumm S, McAlister WH, Novack DV, Wenkert D, Clements KL, Whyte MP.

Bone. 2016 Mar;84:289-298. doi: 10.1016/j.bone.2015.11.022. Epub 2015 Dec 31.


Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.

Whyte MP, Madson KL, McAlister WH, Mumm S, Novack DV, Blair JC, Shaw NJ.

J Bone Miner Res. 2015 Aug;30(8):1537. doi: 10.1002/jbmr.2561. Epub 2015 Jun 10. No abstract available.


Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

Frederiksen AL, Larsen MJ, Brusgaard K, Novack DV, Knudsen PJ, Schrøder HD, Qiu W, Eckhardt C, McAlister WH, Kassem M, Mumm S, Frost M, Whyte MP.

J Bone Miner Res. 2016 Jan;31(1):163-72. doi: 10.1002/jbmr.2590. Epub 2015 Aug 6.


Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.

Bone. 2015 Jun;75:229-39. doi: 10.1016/j.bone.2015.02.022. Epub 2015 Feb 27.


Response to: A rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis.

Whyte MP, Madson KL, McAlister WH, Mumm S, Novack DV, Blair JC, Shaw NJ.

J Bone Miner Res. 2015 May;30(5):946. doi: 10.1002/jbmr.2455. No abstract available. Erratum in: J Bone Miner Res. 2015 Aug;30(8):1537.


Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Whyte MP, Blythe A, McAlister WH, Nenninger AR, Bijanki VN, Mumm S.

J Bone Miner Res. 2015 Apr;30(4):606-14. doi: 10.1002/jbmr.2398.


Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Whyte MP, Tau C, McAlister WH, Zhang X, Novack DV, Preliasco V, Santini-Araujo E, Mumm S.

Bone. 2014 Nov;68:153-61. doi: 10.1016/j.bone.2014.07.019. Epub 2014 Jul 23.

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