An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Autor: IA Cismondi, R. Kohan, R. Dodelson de Kremer, N Guelbert, Michael Fietz, V. Tapia Anzolini, VJ Muller, AM Oller Ramírez, I. Noher de Halac

Publikováno v: Clinical Genetics. 76:372-382

The neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid lipofuscin-like bodies. NCL type 1 (CLN1) and type 2 (CLN2) are caused by deficiencies of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f202ecf7943b479ac3495ba773ad727e
https://doi.org/10.1111/j.1399-0004.2009.01214.x

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslated region

Autor: B.R. Akerman, Roy A. Gravel, Carlos E. Argaraña, AM Oller de Ramirez, Frida E. Kleiman, R. Dodelson de Kremer

Publikováno v: Human Mutation. 12:320-329

While screening for new mutations in the HEXB gene, which encodes the beta-subunit of beta-hexosaminidase, a TG deletion (deltaTG) was found in the 3' untranslated region (3'UTR) of the gene, 7 bp upstream from the polyadenylation signal. Examination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c7d94686d68190352bcb170a5d6cc31
https://doi.org/10.1002/(sici)1098-1004(1998)12:5<320::aid-humu5>3.0.co

Clinical, Biochemical and Molecular studies of two siblings with cdg-ix in the context of the first program for congenital disorders of glycosylation studies in Argentina

Autor: M.B.Bistué Millón, M.A.Delgado, N.B.Azar, N.Guelbert, L.Sturiale, G.Matthijs, J.Jaeken, R. Dodelson de Kremer, C.G.Asteggiano

Publikováno v: 11th International Congress of Inborn Errors of Metabolism (ICIEM 2009), 2009
info:cnr-pdr/source/autori:M.B.Bistué Millón, M.A.Delgado, N.B.Azar, N.Guelbert, L.Sturiale, G.Matthijs, J.Jaeken, R. Dodelson de Kremer, C.G.Asteggiano/congresso_nome:11th International Congress of Inborn Errors of Metabolism (ICIEM 2009)/congresso_luogo:/congresso_data:2009/anno:2009/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c4b811f99afccdeee8dadb4b34ad14d9
http://www.cnr.it/prodotto/i/106154

Maternal mutation 677CT in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring

Autor: R, Dodelson de Kremer, C, Grosso

Publikováno v: Clinical genetics. 67(1)

A frequent polymorphism in the gene coding for 5,10-methylenetetrahydrofolate reductase is the substitution 677CT which produces a thermolabile and inefficient enzyme. Homozygosity for the 677CT allele is the most important determinant of hyperhomocy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c161c95e991554be798bfd19f0e9c70f
https://pubmed.ncbi.nlm.nih.gov/15617551

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region

Autor: F E, Kleiman, A O, Ramírez, R, Dodelson de Kremer, R A, Gravel, C E, Argaraña

Publikováno v: Human mutation. 12(5)

While screening for new mutations in the HEXB gene, which encodes the beta-subunit of beta-hexosaminidase, a TG deletion (deltaTG) was found in the 3' untranslated region (3'UTR) of the gene, 7 bp upstream from the polyadenylation signal. Examination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::78c2c83fbfc58887596c87dfa46f3a76
https://pubmed.ncbi.nlm.nih.gov/9792408