199 related articles for article (PubMed ID: 30246063)
1. A moderate form of osteogenesis imperfecta caused by compound heterozygous
Santana A; Franzone JM; McGreal CM; Kruse RW; Bober MB
Bone Rep; 2018 Dec; 9():132-135. PubMed ID: 30246063
[TBL] [Abstract][Full Text] [Related]
2. Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.
Bala MM; Bala KA
Adv Clin Exp Med; 2021 Dec; 30(12):1233-1238. PubMed ID: 34637196
[TBL] [Abstract][Full Text] [Related]
3. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C; Trancozo M; Almeida MG; Almeida LS; Santos TO; Duarte JC; Rebouças MR; Sipolatti V; Nunes VR; Paula F
Genet Mol Res; 2015 Dec; 14(4):15848-58. PubMed ID: 26634552
[TBL] [Abstract][Full Text] [Related]
4. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D; Schwarze U; Morello R; Lennington J; Bertin TK; Pace JM; Pepin MG; Weis M; Eyre DR; Walsh J; Lambert D; Green A; Robinson H; Michelson M; Houge G; Lindman C; Martin J; Ward J; Lemyre E; Mitchell JJ; Krakow D; Rimoin DL; Cohn DH; Byers PH; Lee B
Hum Mutat; 2008 Dec; 29(12):1435-42. PubMed ID: 18566967
[TBL] [Abstract][Full Text] [Related]
5. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
Costantini A; Tournis S; Kämpe A; Ul Ain N; Taylan F; Doulgeraki A; Mäkitie O
Calcif Tissue Int; 2018 Sep; 103(3):353-358. PubMed ID: 29572562
[TBL] [Abstract][Full Text] [Related]
6. Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate.
Lindahl K; Kindmark A; Rubin CJ; Malmgren B; Grigelioniene G; Söderhäll S; Ljunggren Ö; Åström E
Bone; 2016 Jun; 87():11-8. PubMed ID: 26957348
[TBL] [Abstract][Full Text] [Related]
7. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y; Takeyari S; Nakano Y; Kitaoka T; Nakayama H; Bizaoui V; Yamamoto K; Miyata K; Yamamoto K; Fujiwara M; Kubota T; Michigami T; Yamamoto K; Yamamoto T; Namba N; Ebina K; Yoshikawa H; Ozono K
Osteoporos Int; 2019 Nov; 30(11):2333-2342. PubMed ID: 31363794
[TBL] [Abstract][Full Text] [Related]
8. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
Bardai G; Moffatt P; Glorieux FH; Rauch F
Osteoporos Int; 2016 Dec; 27(12):3607-3613. PubMed ID: 27509835
[TBL] [Abstract][Full Text] [Related]
9. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A; Malfait F; Symoens S; Gevaert K; Kayserili H; Megarbane A; Mortier G; Leroy JG; Coucke PJ; De Paepe A
J Med Genet; 2009 Apr; 46(4):233-41. PubMed ID: 19088120
[TBL] [Abstract][Full Text] [Related]
10. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
Song Y; Zhao D; Xu X; Lv F; Li L; Jiang Y; Wang O; Xia W; Xing X; Li M
Osteoporos Int; 2018 Jun; 29(6):1389-1396. PubMed ID: 29520608
[TBL] [Abstract][Full Text] [Related]
11. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA; Aglan MS; Temtamy S; Otaify GA; Valencia M; Nevado J; Vallespin E; Del Pozo A; Prior de Castro C; Calatrava-Ferreras L; Gutierrez P; Bueno AM; Sagastizabal B; Guillen-Navarro E; Ballesta-Martinez M; Gonzalez V; Basaran SY; Buyukoglan R; Sarikepe B; Espinoza-Valdez C; Cammarata-Scalisi F; Martinez-Glez V; Heath KE; Lapunzina P; Ruiz-Perez VL
Mol Genet Genomic Med; 2017 Jan; 5(1):28-39. PubMed ID: 28116328
[TBL] [Abstract][Full Text] [Related]
12. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA; Barnes AM; Adeyemo A; Cushing K; Chitayat D; Porter FD; Panny SR; Gulamali-Majid F; Tishkoff SA; Rebbeck TR; Gueye SM; Bailey-Wilson JE; Brody LC; Rotimi CN; Marini JC
Genet Med; 2012 May; 14(5):543-51. PubMed ID: 22281939
[TBL] [Abstract][Full Text] [Related]
13. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL; Chan TF; Poon A; Schwarze U; Yang K; Byers PH; Kwok PY; Klein TE
Hum Mol Genet; 2009 Feb; 18(3):463-71. PubMed ID: 18996919
[TBL] [Abstract][Full Text] [Related]
14. Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
Cho SY; Ki CS; Sohn YB; Kim SJ; Maeng SH; Jin DK
J Korean Med Sci; 2013 Jul; 28(7):1107-10. PubMed ID: 23853499
[TBL] [Abstract][Full Text] [Related]
15. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H; Yue H; Wang C; Hu W; Gu J; He J; Fu W; Hu Y; Li M; Zhang Z
Mol Med Rep; 2016 Nov; 14(5):4918-4926. PubMed ID: 27748872
[TBL] [Abstract][Full Text] [Related]
16. Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
Moul A; Alladin A; Navarrete C; Abdenour G; Rodriguez MM
Fetal Pediatr Pathol; 2013 Oct; 32(5):319-25. PubMed ID: 23301918
[TBL] [Abstract][Full Text] [Related]
17. What is new in genetics and osteogenesis imperfecta classification?
Valadares ER; Carneiro TB; Santos PM; Oliveira AC; Zabel B
J Pediatr (Rio J); 2014; 90(6):536-41. PubMed ID: 25046257
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC; Saraff V; Dalton A; Webb EA; Shaw NJ; Sobey GJ; Mughal MZ; Hobson E; Ali F; Bishop NJ; Arundel P; Högler W; Balasubramanian M
Am J Med Genet A; 2016 Dec; 170(12):3150-3156. PubMed ID: 27576954
[TBL] [Abstract][Full Text] [Related]
19. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]