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Quoted phrase not found in phrase index: "Osteogenesis imperfecta, recessive perinatal lethal"
Page 1
What is new in genetics and osteogenesis imperfecta classification?
Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B. Valadares ER, et al. J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18. J Pediatr (Rio J). 2014. PMID: 25046257 Free article. Review.
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence …
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: L …
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. Bodian DL, et al. Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996919 Free PMC article.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. ...To provide additional data for genotype-phenotype analyses and to determine the proport …
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder prima …
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME. Thompson EM, et al. J Med Genet. 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. J Med Genet. 1987. PMID: 3612715 Free PMC article.
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. ...The other three cases had radiological type IIB OI at birth and died before 26 month …
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to nor …
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. Pyott SM, et al. Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. Genet Med. 2011. PMID: 21239989 Free article.
PURPOSE: Recurrence of lethal osteogenesis imperfecta in families results from either dominant (parental mosaicism) or recessive inheritance. ...CONCLUSIONS: In most populations, recurrence of lethal osteogenesis imperfecta usually …
PURPOSE: Recurrence of lethal osteogenesis imperfecta in families results from either dominant (parental mosaicism) or …
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.
Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL. Sillence DO, et al. Am J Med Genet. 1986 Mar;23(3):821-32. doi: 10.1002/ajmg.1320230309. Am J Med Genet. 1986. PMID: 3953678
The existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characterized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. ...On the other hand, distinction between thes …
The existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characterized by autosomal …
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity.
Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL. Sillence DO, et al. Am J Med Genet. 1984 Feb;17(2):407-23. doi: 10.1002/ajmg.1320170204. Am J Med Genet. 1984. PMID: 6702894
A group of fetuses with a perinatally lethal variety of osteogenesis imperfecta (O.I. type II) is characterized by short limbs, and clinical and roentgenological evidence of severe osseous fragility and defective ossification. ...An increased frequency …
A group of fetuses with a perinatally lethal variety of osteogenesis imperfecta (O.I. type II) is characterized …