Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 90

1.

Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

Streeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H.

Bone. 2008 Sep;43(3):584-90. doi: 10.1016/j.bone.2008.04.020. Epub 2008 May 7.

2.

Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation.

Barros ER, Dias da Silva MR, Kunii IS, Lazaretti-Castro M.

J Pediatr Endocrinol Metab. 2008 Aug;21(8):811-8. Erratum in: J Pediatr Endocrinol Metab. 2008 Sep;21(9):911.

PMID:
18825883
3.

Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.

Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O.

Horm Res Paediatr. 2012;77(2):115-20. doi: 10.1159/000336193. Epub 2012 Mar 23.

PMID:
22456437
4.

Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.

Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Holmes Morton D, Puffenberger EG, Herskovitz R, Leonard MB.

Bone. 2015 Aug;77:17-23. doi: 10.1016/j.bone.2015.04.007. Epub 2015 Apr 16.

5.

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

Cheung WM, Jin LY, Smith DK, Cheung PT, Kwan EY, Low L, Kung AW.

Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.

PMID:
16679074
6.

Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG).

Bayram F, Tanriverdi F, Kurtoğlu S, Atabek ME, Kula M, Kaynar L, Keleştimur F.

J Pediatr Endocrinol Metab. 2006 Mar;19(3):275-9.

PMID:
16607930
7.

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.

Marques-Pinheiro A, Levasseur R, Cormier C, Bonneau J, Boileau C, Varret M, Abifadel M, Allanore Y.

Joint Bone Spine. 2010 Mar;77(2):151-3. doi: 10.1016/j.jbspin.2009.11.013. Epub 2010 Jan 21.

PMID:
20096619
8.

Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG).

Celli M, D'Eufemia P, Persiani P, Turchetti A, Febbo A, D'Alfonso Y, Celli L, Zambrano A.

Osteoporos Int. 2017 Nov;28(11):3277-3280. doi: 10.1007/s00198-017-4214-x. Epub 2017 Sep 2.

PMID:
28866852
9.

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5.

Biha N, Ghaber SM, Hacen MM, Collet C.

Case Rep Genet. 2016;2016:9814928. doi: 10.1155/2016/9814928. Epub 2016 Jan 19.

10.

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.

Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16.

11.

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

Astiazarán MC, Cervantes-Sodi M, Rebolledo-Enríquez E, Chacón-Camacho O, Villegas V, Zenteno JC.

Genet Test Mol Biomarkers. 2017 Dec;21(12):742-746. doi: 10.1089/gtmb.2017.0118. Epub 2017 Nov 13.

PMID:
29131652
12.

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.

Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T.

Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177.

PMID:
20034086
13.

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma Collaborative Group.

Am J Hum Genet. 2005 Nov;77(5):741-53. Epub 2005 Sep 27.

14.

Teriparatide increases bone mineral density in a man with osteoporosis pseudoglioma.

Arantes HP, Barros ER, Kunii I, Bilezikian JP, Lazaretti-Castro M.

J Bone Miner Res. 2011 Dec;26(12):2823-6. doi: 10.1002/jbmr.530.

15.

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.

Alonso N, Soares DC, V McCloskey E, Summers GD, Ralston SH, Gregson CL.

J Bone Miner Res. 2015 Apr;30(4):615-20. doi: 10.1002/jbmr.2403.

16.

Potential blindness in children of patients with hereditary bone disease.

Kheir V, Munier FL, Aubry-Rozier B, Schorderet DF.

Osteoporos Int. 2016 Feb;27(2):841-4. doi: 10.1007/s00198-015-3245-4. Epub 2015 Aug 5.

PMID:
26243358
18.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group.

Cell. 2001 Nov 16;107(4):513-23.

19.
20.

LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

Ergun SG, Akay GG, Ergun MA, Perçin EF.

Eur J Med Genet. 2017 Mar;60(3):200-204. doi: 10.1016/j.ejmg.2017.01.007. Epub 2017 Jan 19.

PMID:
28111184

Supplemental Content

Support Center