153 related articles for article (PubMed ID: 25565926)
1. Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo RM; Sobreira N; de Faria Soares Mde F; Jurgens J; Ling H; Hetrick KN; Doheny KF; Valle D; Brunoni D; Perez AB
Mol Syndromol; 2014 Dec; 5(6):268-75. PubMed ID: 25565926
[TBL] [Abstract][Full Text] [Related]
2. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
[TBL] [Abstract][Full Text] [Related]
3. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
Rubinato E; Morgan A; D'Eustacchio A; Pecile V; Gortani G; Gasparini P; Faletra F
Gene; 2014 Jul; 545(2):290-2. PubMed ID: 24835313
[TBL] [Abstract][Full Text] [Related]
4. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY; Liu Y; Song LJ; Lv F; Xu XJ; San A; Wang J; Yang HM; Yang ZY; Jiang Y; Wang O; Xia WB; Xing XP; Li M
Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
Zhang H; Xu Y; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
Int J Mol Med; 2018 Jun; 41(6):3662-3670. PubMed ID: 29512769
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
[TBL] [Abstract][Full Text] [Related]
9. Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.
Rajagopal A; Homan EP; Joeng KS; Suzuki M; Bertin T; Cela R; Munivez E; Dawson B; Jiang MM; Gannon F; Crawford S; Lee BH
Mol Genet Metab; 2016 Mar; 117(3):378-82. PubMed ID: 26693895
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
[TBL] [Abstract][Full Text] [Related]
11. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
[TBL] [Abstract][Full Text] [Related]
12. Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S; Cao Y; Wang H; Li L; Ren X; Mi H; Wang Y; Guan Y; Zhao F; Mao B; Yang T; You Y; Guan X; Yang Y; Zhang X; Zhao X
Front Genet; 2020; 11():984. PubMed ID: 33093841
[TBL] [Abstract][Full Text] [Related]
13. Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.
Kang H; Aryal Ac S; Barnes AM; Martin A; David V; Crawford SE; Marini JC
J Bone Miner Res; 2022 May; 37(5):925-937. PubMed ID: 35258129
[TBL] [Abstract][Full Text] [Related]
14. Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in
Jin Z; Burrage LC; Jiang MM; Lee YC; Bertin T; Chen Y; Tran A; Gibbs RA; Jhangiani S; Sutton VR; Rauch F; Lee B; Jain M
JBMR Plus; 2018 Jul; 2(4):235-239. PubMed ID: 30283904
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Becker J; Semler O; Gilissen C; Li Y; Bolz HJ; Giunta C; Bergmann C; Rohrbach M; Koerber F; Zimmermann K; de Vries P; Wirth B; Schoenau E; Wollnik B; Veltman JA; Hoischen A; Netzer C
Am J Hum Genet; 2011 Mar; 88(3):362-71. PubMed ID: 21353196
[TBL] [Abstract][Full Text] [Related]
17. A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Tucker T; Nelson T; Sirrs S; Roughley P; Glorieux FH; Moffatt P; Schlade-Bartusiak K; Brown L; Rauch F
Am J Med Genet A; 2012 Jun; 158A(6):1422-6. PubMed ID: 22528245
[TBL] [Abstract][Full Text] [Related]
18. Osteogenesis imperfecta in Brazilian patients.
Trancozo M; Moraes MVD; Silva DA; Soares JAM; Barbirato C; Almeida MG; Santos LR; Rebouças MRGO; Akel AN; Sipolatti V; Nunes VRR; Errera FIV; Aguena M; Passos-Bueno MR; Paula F
Genet Mol Biol; 2019; 42(2):344-350. PubMed ID: 31429852
[TBL] [Abstract][Full Text] [Related]
19. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
[TBL] [Abstract][Full Text] [Related]
20. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP; Souza LT; Ribeiro EM; Acosta AX; Lago RMRS; Simoni G; Llerena JC; Félix TM
Bone; 2023 Apr; 169():116683. PubMed ID: 36709916
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
