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7. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357 [TBL] [Abstract][Full Text] [Related]
8. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. Takagi M; Ishii T; Barnes AM; Weis M; Amano N; Tanaka M; Fukuzawa R; Nishimura G; Eyre DR; Marini JC; Hasegawa T PLoS One; 2012; 7(5):e36809. PubMed ID: 22615817 [TBL] [Abstract][Full Text] [Related]
9. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Marini JC; Cabral WA; Barnes AM Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557 [TBL] [Abstract][Full Text] [Related]
10. Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings. van Dijk FS; Nikkels PG; den Hollander NS; Nesbitt IM; van Rijn RR; Cobben JM; Pals G Pediatr Dev Pathol; 2011; 14(3):228-34. PubMed ID: 20946018 [TBL] [Abstract][Full Text] [Related]
11. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Pyott SM; Schwarze U; Christiansen HE; Pepin MG; Leistritz DF; Dineen R; Harris C; Burton BK; Angle B; Kim K; Sussman MD; Weis M; Eyre DR; Russell DW; McCarthy KJ; Steiner RD; Byers PH Hum Mol Genet; 2011 Apr; 20(8):1595-609. PubMed ID: 21282188 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Chang W; Barnes AM; Cabral WA; Bodurtha JN; Marini JC Hum Mol Genet; 2010 Jan; 19(2):223-34. PubMed ID: 19846465 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations. Pepin MG; Schwarze U; Singh V; Romana M; Jones-Lecointe A; Byers PH Mol Genet Genomic Med; 2013 Nov; 1(4):194-205. PubMed ID: 24498616 [TBL] [Abstract][Full Text] [Related]
17. Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases. Caudevilla Lafuente P; Izquierdo-Álvarez S; Labarta Aizpún JI Med Clin (Barc); 2019 Oct; 153(8):336-337. PubMed ID: 30389107 [No Abstract] [Full Text] [Related]
18. 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]
19. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Caparrós-Martin JA; Valencia M; Pulido V; Martínez-Glez V; Rueda-Arenas I; Amr K; Farra C; Lapunzina P; Ruiz-Perez VL; Temtamy S; Aglan M Am J Med Genet A; 2013 Jun; 161A(6):1354-69. PubMed ID: 23613367 [TBL] [Abstract][Full Text] [Related]
20. Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. Pyott SM; Pepin MG; Schwarze U; Yang K; Smith G; Byers PH Genet Med; 2011 Feb; 13(2):125-30. PubMed ID: 21239989 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]