224 related articles for article (PubMed ID: 21407258)
1. 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. PubMed ID: 21407258
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 29131652
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 20034086
[TBL] [Abstract][Full Text] [Related]
4. Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
Papadopoulos I; Bountouvi E; Attilakos A; Gole E; Dinopoulos A; Peppa M; Nikolaidou P; Papadopoulou A
Eur J Pediatr; 2019 Mar; 178(3):323-329. PubMed ID: 30499050
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 20096619
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18825883
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22456437
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M; Heeger S; Bartels CF; Schelling DK;
Am J Hum Genet; 2005 Nov; 77(5):741-53. PubMed ID: 16252235
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16679074
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 25384351
[TBL] [Abstract][Full Text] [Related]
11. Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
Abdel-Hamid MS; Elhossini RM; Otaify GA; Abdel-Ghafar SF; Aglan MS
Osteoporos Int; 2022 Jul; 33(7):1501-1510. PubMed ID: 35106624
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 28866852
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 26904320
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 18602879
[TBL] [Abstract][Full Text] [Related]
15. Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.
Ren N; Lv S; Li X; Shao C; Wang Z; Mei Y; Yang W; Fu W; Hu Y; Sha L; Hu W; Zhang Z; Wang C
Osteoporos Int; 2024 Apr; ():. PubMed ID: 38625381
[TBL] [Abstract][Full Text] [Related]
16. Novel Homozygous Nonsense Mutation in the
Heidari A; Homaei A; Saffari F
J Clin Res Pediatr Endocrinol; 2023 Aug; 15(3):318-323. PubMed ID: 34965700
[TBL] [Abstract][Full Text] [Related]
17. Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
Rickels MR; Zhang X; Mumm S; Whyte MP
J Bone Miner Res; 2005 May; 20(5):878-85. PubMed ID: 15824861
[TBL] [Abstract][Full Text] [Related]
18. Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.
Welinder LG; Robitaille JM; Rupps R; Boerkoel CF; Lyons CJ
Ophthalmic Genet; 2015; 36(3):276-80. PubMed ID: 25945592
[TBL] [Abstract][Full Text] [Related]
19. LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
Levasseur R; Lacombe D; de Vernejoul MC
Joint Bone Spine; 2005 May; 72(3):207-14. PubMed ID: 15850991
[TBL] [Abstract][Full Text] [Related]
20. Treatment and management of osteoporosis-pseudoglioma syndrome.
Levasseur R
Expert Rev Endocrinol Metab; 2008 May; 3(3):337-348. PubMed ID: 30754200
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]