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Page 1
NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with differe …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser …
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L, Steindl K, Joset P, Zweier M, Baumer A, Gerth-Kahlert C, Tutschek B, Rauch A. Gogoll L, et al. Am J Med Genet A. 2021 Aug;185(8):2546-2560. doi: 10.1002/ajmg.a.62351. Epub 2021 Jun 1. Am J Med Genet A. 2021. PMID: 34075687 Free PMC article. Review.
Ogden syndrome is a rare lethal X-linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N-terminal acetyltransferase A complex (NatA). ...By describing new presenting features, we are fur …
Ogden syndrome is a rare lethal X-linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gen …
Dyskeratosis congenita.
Handley TP, McCaul JA, Ogden GR. Handley TP, et al. Oral Oncol. 2006 Apr;42(4):331-6. doi: 10.1016/j.oraloncology.2005.06.007. Epub 2005 Sep 2. Oral Oncol. 2006. PMID: 16140563 Review.
Various mucocutaneous and non-mucocutaneous manifestations have been reported. The syndrome arises from an inherited defect within the DKC1 gene that codes for the protein dyskerin in the X-linked recessive form of the disorder, whereas mutations in the RNA component of te …
Various mucocutaneous and non-mucocutaneous manifestations have been reported. The syndrome arises from an inherited defect within th …
The epidemiology of obesity.
Ogden CL, Yanovski SZ, Carroll MD, Flegal KM. Ogden CL, et al. Gastroenterology. 2007 May;132(6):2087-102. doi: 10.1053/j.gastro.2007.03.052. Gastroenterology. 2007. PMID: 17498505 Review.
The Implications of Genetic Testing on Radiation Therapy Decisions: A Guide for Radiation Oncologists.
Bergom C, West CM, Higginson DS, Abazeed ME, Arun B, Bentzen SM, Bernstein JL, Evans JD, Gerber NK, Kerns SL, Keen J, Litton JK, Reiner AS, Riaz N, Rosenstein BS, Sawakuchi GO, Shaitelman SF, Powell SN, Woodward WA. Bergom C, et al. Int J Radiat Oncol Biol Phys. 2019 Nov 15;105(4):698-712. doi: 10.1016/j.ijrobp.2019.07.026. Epub 2019 Aug 2. Int J Radiat Oncol Biol Phys. 2019. PMID: 31381960 Review.
First Things First: Vital Protein Marks by N-Terminal Acetyltransferases.
Aksnes H, Drazic A, Marie M, Arnesen T. Aksnes H, et al. Trends Biochem Sci. 2016 Sep;41(9):746-760. doi: 10.1016/j.tibs.2016.07.005. Epub 2016 Aug 3. Trends Biochem Sci. 2016. PMID: 27498224 Free article. Review.
Mutations of specific human NATs that decrease their activity can cause either the lethal Ogden syndrome or severe intellectual disability and cardiovascular defects. ...
Mutations of specific human NATs that decrease their activity can cause either the lethal Ogden syndrome or severe intellectua …
Pulmonary complications of primary immunodeficiencies.
Buckley RH. Buckley RH. Paediatr Respir Rev. 2004;5 Suppl A:S225-33. doi: 10.1016/s1526-0542(04)90043-7. Paediatr Respir Rev. 2004. PMID: 14980276 Review.
In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. ...Within the past decade the molecular bases of 7 X-linked immunodeficiency disorders have been reported: X-linked immunode …
In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have …
When inflammation is not just inflammation-A review of systemic diseases of the nose and sinuses part 2: Granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis.
Cler SJ, Ogden MA, Farrell NF, Roland LT, Diffie CE, Schneider JS. Cler SJ, et al. Am J Otolaryngol. 2024 May-Jun;45(3):104207. doi: 10.1016/j.amjoto.2023.104207. Epub 2023 Dec 18. Am J Otolaryngol. 2024. PMID: 38176206 Review.
In total, 42 references for GPA and 35 references for eGPA were included in this review. CONCLUSION: GPA and eGPA are vasculitis syndromes which commonly present in the context of multisystem disease. ...
In total, 42 references for GPA and 35 references for eGPA were included in this review. CONCLUSION: GPA and eGPA are vasculitis syndrome …
23 results