Výsledky vyhledávání - "Edith J. Chernoff"

Controlled Trial of Pamidronate in Children With Types III and IV Osteogenesis Imperfecta Confirms Vertebral Gains but Not Short-Term Functional Improvement

Autor: Edith J. Chernoff, James C. Reynolds, Holly Lea Cintas, Joan C. Marini, Christopher E. Cann, Anne D. Letocha, James Troendle, Lynn H. Gerber, Suvimol Hill

Publikováno v: Journal of Bone and Mineral Research. 20:977-986

Bisphosphonates have been widely administered to children with OI based on observational trials. A randomized controlled trial of q3m intravenous pamidronate in children with types III and IV OI yielded positive vertebral changes in DXA and geometry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3efdab3275eda413bfd591d621d03cc2
https://doi.org/10.1359/jbmr.050109

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Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation

Autor: Cherng-Lih Perng, Cynthia J. Tifft, Tian-Jian Chen, Edith J. Chernoff, Lee-Jun C. Wong, Andrea L. Gropman, Donna M. Krasnewich

Publikováno v: American Journal of Medical Genetics. :377-382

Leber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)-encoded ND6 gene. This mutation has been reported in families presenting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c32f0ece61de72466fbdbf9555876b
https://doi.org/10.1002/ajmg.a.20456

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Osteogenesis Imperfecta

Autor: Joan C. Marini, Anne D. Letocha, Edith J. Chernoff

Publikováno v: Management of Genetic Syndromes ISBN: 0471695998

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef9a6f0d539086e3aa3d76977c12fb9a
https://doi.org/10.1002/0471695998.mgs034

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G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix

Autor: Edith J. Chernoff, Wayne A. Cabral, Joan C. Marini

Publikováno v: Molecular genetics and metabolism. 72(4)

The majority of osteogenesis imperfecta (OI) is caused by substitutions for glycine residues in the two alpha chains of type I collagen. Since only 4% of possible nucleotide changes in type I collagen glycine codons would result in a glutamic acid su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::756b8f2aacbb73024e197226600060bc
https://pubmed.ncbi.nlm.nih.gov/11286507

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