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Literature DB >> 393318

Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity.

D O Sillence, D L Rimoin, D M Danks.

Abstract

Entities: Disease

Mesh：

Year: 1979 PMID： 393318

Source DB: PubMed Journal: Birth Defects Orig Artic Ser ISSN： 0547-6844

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35 in total

1. Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta.

Authors: Eva Aström; Håkan Jorulf; Stefan Söderhäll
Journal: Arch Dis Child Date: 2006-11-17 Impact factor: 3.791

2. Case report: osteogenesis imperfecta Elusive cause of fractures.

Authors: Elizabeth L Strevel; Alexandra Papaioannou; Jonathan D Adachi; Marty McNamara
Journal: Can Fam Physician Date: 2005-12 Impact factor: 3.275

Review 3. Unexplained fractures in infancy: looking for fragile bones.

Authors: Nick Bishop; Alan Sprigg; Ann Dalton
Journal: Arch Dis Child Date: 2007-03 Impact factor: 3.791

4. A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.

Authors: J M Pace; D Chitayat; M Atkinson; W R Wilcox; U Schwarze; P H Byers
Journal: J Med Genet Date: 2002-01 Impact factor: 6.318

5. Respiratory defects in the CrtapKO mouse model of osteogenesis imperfecta.

Authors: Milena Dimori; Melissa E Heard-Lipsmeyer; Stephanie D Byrum; Samuel G Mackintosh; Richard C Kurten; John L Carroll; Roy Morello
Journal: Am J Physiol Lung Cell Mol Physiol Date: 2020-02-05 Impact factor: 5.464

Review 6. Osteogenesis imperfecta and therapeutics.

Authors: Roy Morello
Journal: Matrix Biol Date: 2018-03-11 Impact factor: 11.583

Review 7. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Authors: Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James Troendle; Raymond Dalgleish; Peter H Byers
Journal: Hum Mutat Date: 2007-03 Impact factor: 4.878