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Items: 9

1.

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.

Nguyen HH, M van de Laarschot D, Verkerk AJ, Milat F, Zillikens MC, Ebeling PR.

JBMR Plus. 2018 Jan 3;2(1):1-11. doi: 10.1002/jbm4.10024. eCollection 2018 Jan. Review.

2.

Plastin 3 influences bone homeostasis through regulation of osteoclast activity.

Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B.

Hum Mol Genet. 2018 Dec 15;27(24):4249-4262. doi: 10.1093/hmg/ddy318.

PMID:
30204862
3.

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O.

J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6.

4.

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.

Lv F, Ma M, Liu W, Xu X, Song Y, Li L, Jiang Y, Wang O, Xia W, Xing X, Qiu Z, Li M.

Osteoporos Int. 2017 Sep;28(9):2691-2700. doi: 10.1007/s00198-017-4094-0. Epub 2017 Jun 16.

PMID:
28620780
5.

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.

Kannu P, Mahjoub A, Babul-Hirji R, Carter MT, Harrington J.

Horm Res Paediatr. 2017;88(3-4):298-304. doi: 10.1159/000477242. Epub 2017 Jun 12.

PMID:
28605746
6.

Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation.

van de Laarschot DM, Zillikens MC.

Bone. 2016 Oct;91:148-51. doi: 10.1016/j.bone.2016.07.022. Epub 2016 Jul 29.

PMID:
27477003
7.

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.

Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, Mäyränpää MK, Laine T, Pekkinen M, Kröger H, Välimäki VV, Välimäki MJ, Lehesjoki AE, Mäkitie O.

J Bone Miner Res. 2015 Mar;30(3):510-8. doi: 10.1002/jbmr.2355.

8.

What is new in genetics and osteogenesis imperfecta classification?

Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B.

J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18. Review.

9.

PLS3 mutations in X-linked osteoporosis with fractures.

van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.

N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.

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