Výsledky vyhledávání - "M. Grazia Pomponi"

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene

Autor: Giovanni Neri, Roberta Pietrobono, M. Grazia Pomponi, Pietro Chiurazzi, Cathy E. Bakker, Ben A. Oostra

Publikováno v: Human Molecular Genetics, 8(12), 2317-2323. Oxford University Press

Most fragile X syndrome patients have expansion of a (CGG) n sequence with >200 repeats (full mutation) in the FMR1 gene responsible for this condition. Hypermethylation of the expanded repeat and of the FMR1 promoter is almost always present and app

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99f30aafa8afa482e49b4cafe387684
https://pure.eur.nl/en/publications/582eceec-ceeb-404f-ab56-bc7256927e33

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In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome

Autor: Ben A. Oostra, Giovanni Neri, Rob Willemsen, M. Grazia Pomponi, Pietro Chiurazzi

Publikováno v: Human Molecular Genetics, 7(1), 109-113. Oxford University Press

Fragile X syndrome is the most frequent cause of heritable mental retardation. Most patients have a mutation in the 5' untranslated region of the FMR1 gene, consisting of the amplification of a polymorphic (CGG)nrepeat sequence, and cytogenetically e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f8558ca8bdb0f0a8faffc158b2813c7
https://doi.org/10.1093/hmg/7.1.109

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Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

Autor: M. Grazia Pomponi, Pietro Chiurazzi, Roberta Pietrobono, Caterina Neri, Giovanni Neri

Publikováno v: American journal of medical genetics. Part A. (2)

We report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605dabf6190a525259fad1b3435fdc83
https://pubmed.ncbi.nlm.nih.gov/20082462

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DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new allele nomenclature

Autor: Pietro Chiurazzi, François Rousseau, James N. Macpherson, Marie Lou Morel, Andrea Sharrock, Sébastien Lormeau, M. Grazia Pomponi

Publikováno v: American Journal of Medical Genetics. 83:347-349

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5edae9e709f42757742a98fe4ef1aa27
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<347::aid-ajmg25>3.0.co

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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

Autor: Roberta Pietrobono, Giovanni Neri, Alessandra Terracciano, M. Grazia Pomponi, Elisabetta Tabolacci, Pietro Chiurazzi

Publikováno v: American journal of medical genetics. Part A. 140(5)

X-linked mental retardation (XLMR) is a genetically heterogeneous condition, due to mutations in at least 50 genes, involved in functioning of the central nervous system and located on the X chromosome. Nonspecific XLMR (MRX) is characterized essenti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcaa93c5898788ddde4da54d34405338
https://pubmed.ncbi.nlm.nih.gov/16470793

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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

Autor: Tabolacci, Elisabetta, M Grazia Pomponi, Roberta, Pietrobono, Alessandra, Terracciano, Chiurazzi, Pietro, Neri, Giovanni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2601::a5f1cb1d21d7d86adfe5e1b6473af262
https://hdl.handle.net/10807/228433

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Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions

Autor: Christina Brahe, Vito Guzzetta, Giovanni Neri, Generoso Andria, M. Grazia Pomponi, Roberto Della Casa, Fiorella Gurrieri, Stefania Zappata, Laura Vicari, Lucia Perone, Gianfranco Sebastio, Lucia Sebastio, Attilio Mazzei

Publikováno v: American journal of medical genetics. 63(2)

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2813a50bc7a6c8a40cd22762dc41c9f2
https://pubmed.ncbi.nlm.nih.gov/8725787

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Akademický článek

Valproate-induced systemic lupus erythematosus in a patient with partial trisomy of chromosome 9 and epilepsy.

Autor: Gigli GL; Clinica Neurologica, Universitá Tor Vergata, Rome, Italy., Scalise A, Pauri F, Silvestri G, Diomedi M, Placidi F, Grazia Pomponi M, Masala C

Publikováno v: Epilepsia [Epilepsia] 1996 Jun; Vol. 37 (6), pp. 587-8.

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