These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
204 related articles for article (PubMed ID: 21239989)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Byers PH; Tsipouras P; Bonadio JF; Starman BJ; Schwartz RC Am J Hum Genet; 1988 Feb; 42(2):237-48. PubMed ID: 3341380 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Marini JC; Reich A; Smith SM Curr Opin Pediatr; 2014 Aug; 26(4):500-7. PubMed ID: 25007323 [TBL] [Abstract][Full Text] [Related]
10. Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. Valli M; Barnes AM; Gallanti A; Cabral WA; Viglio S; Weis MA; Makareeva E; Eyre D; Leikin S; Antoniazzi F; Marini JC; Mottes M Clin Genet; 2012 Nov; 82(5):453-9. PubMed ID: 21955071 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Cohn DH; Starman BJ; Blumberg B; Byers PH Am J Hum Genet; 1990 Mar; 46(3):591-601. PubMed ID: 2309707 [TBL] [Abstract][Full Text] [Related]
13. CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Van Dijk FS; Nesbitt IM; Nikkels PG; Dalton A; Bongers EM; van de Kamp JM; Hilhorst-Hofstee Y; Den Hollander NS; Lachmeijer AM; Marcelis CL; Tan-Sindhunata GM; van Rijn RR; Meijers-Heijboer H; Cobben JM; Pals G Eur J Hum Genet; 2009 Dec; 17(12):1560-9. PubMed ID: 19550437 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Raghunath M; Mackay K; Dalgleish R; Steinmann B Eur J Pediatr; 1995 Feb; 154(2):123-9. PubMed ID: 7720740 [TBL] [Abstract][Full Text] [Related]
16. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Lund AM; Nicholls AC; Schwartz M; Skovby F Acta Paediatr; 1997 Jul; 86(7):711-8. PubMed ID: 9240878 [TBL] [Abstract][Full Text] [Related]
17. Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. Michou L; Brown JP Joint Bone Spine; 2011 May; 78(3):252-8. PubMed ID: 20855225 [TBL] [Abstract][Full Text] [Related]
18. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. Barnes AM; Chang W; Morello R; Cabral WA; Weis M; Eyre DR; Leikin S; Makareeva E; Kuznetsova N; Uveges TE; Ashok A; Flor AW; Mulvihill JJ; Wilson PL; Sundaram UT; Lee B; Marini JC N Engl J Med; 2006 Dec; 355(26):2757-64. PubMed ID: 17192541 [TBL] [Abstract][Full Text] [Related]
19. Dominant mutations in familial lethal and severe osteogenesis imperfecta. Cohen-Solal L; Bonaventure J; Maroteaux P Hum Genet; 1991 Jul; 87(3):297-301. PubMed ID: 1864604 [TBL] [Abstract][Full Text] [Related]
20. Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe. Tsipouras P; Schwartz RC; Goldberg JD; Berkowitz RL; Ramirez F J Med Genet; 1987 Jul; 24(7):406-9. PubMed ID: 2886666 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]