Výsledky vyhledávání - "S J, Hayflick"

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Autor: M A, Illingworth, E, Meyer, W K, Chong, A Y, Manzur, L J, Carr, R, Younis, C, Hardy, F, McDonald, A M, Childs, B, Stewart, D, Warren, R, Kneen, M D, King, S J, Hayflick, M A, Kurian

Publikováno v: Molecular Genetics and Metabolism

Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6e09f8de8466ce11e065e6ceaaa606c0
https://pubmed.ncbi.nlm.nih.gov/24745848

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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol ?7-reductase activity in chorionic villi

Autor: G.S. Tint, Robert D. Steiner, Kevin P. Battaile, William E. Connor, Megumi Honda, Akira Honda, Don S. Lin, S. J. Hayflick, Gerald Salen, Sharon Ginat, K. M. Gibson, T. Burlingame, Leesa M. Linck

Publikováno v: Prenatal Diagnosis. 20:238-240

Smith–Lemli–Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::430f2047fba1fea6f3f691ea93e43414
https://doi.org/10.1002/(sici)1097-0223(200003)20:3<238::aid-pd792>3.0.co

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Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)

Autor: Shawn K, Westaway, K H L, Ching, B, Levinson, J G, Gitschier, S J, Hayflick

Publikováno v: Human genetics. 119(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9bb22f34741ce698dcd788c0e44136cc
https://pubmed.ncbi.nlm.nih.gov/17128475

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Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations

Autor: S J, Hayflick, M, Hartman, J, Coryell, J, Gitschier, H, Rowley

Publikováno v: AJNR. American journal of neuroradiology. 27(6)

Patients with a clinical diagnosis of neurodegeneration with brain iron accumulation (NBIA, formerly called Hallervorden-Spatz syndrome) often have mutations in PANK2, the gene encoding pantothenate kinase 2. We investigated correlations between brai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5134696e05ce8188b608dfa508742a30
https://pubmed.ncbi.nlm.nih.gov/16775270

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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi

Autor: L M, Linck, S J, Hayflick, D S, Lin, K P, Battaile, S, Ginat, T, Burlingame, K M, Gibson, M, Honda, A, Honda, G, Salen, G S, Tint, W E, Connor, R D, Steiner

Publikováno v: Prenatal diagnosis. 20(3)

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrochol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::40418e63a539039c7965adafce705bca
https://pubmed.ncbi.nlm.nih.gov/10719329

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