Výsledky vyhledávání - "Luana Barboni"

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease

Autor: Luigi Frati, Claudio Talora, Simona Ceccarelli, Samantha Cialfi, G. Biolcati, Isabella Screpanti, Marco Salvatore, Claudio Palleschi, Armando Magrelli, Luana Barboni, C. De Bernardo, Christian Oliviero, Alberto Gulino, Daniela Uccelletti, Domenica Taruscio, Paola Grammatico, Cinzia Marchese, L. Barbieri

Publikováno v: British Journal of Dermatology. 162:518-526

Background Hailey-Hailey disease (HHD) is an autosomal dominant disorder characterized by suprabasal cutaneous cell separation (acantholysis) leading to the development of erosive and oozing skin lesions. While a strong relationship exists between mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa1421c2abc4805943e5ec03ab9c210b
https://doi.org/10.1111/j.1365-2133.2009.09500.x

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A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma

Autor: Paola Grammatico, Pietro Donati, Luana Barboni, Paola De Simone, Lucia Pedace, Pierluigi Buccini, Teresa Colombo, Carmelilia De Bernardo, Angela Ferrari, Caterina Catricalà, Angela Maria Cozzolino, Aldo Morrone

Publikováno v: Cancer genetics (Online) 207 (2014): 168–169. doi:10.1016/j.cancergen.2014.03.005
info:cnr-pdr/source/autori:Pedace L.; Cozzolino A.M.; Barboni L.; De Bernardo C.; Grammatico P.; De Simone P.; Buccini P.; Ferrari A.; Catricala C.; Colombo T.; Donati P.; Morrone A./titolo:A novel variant in the 3' untranslated region of the CDK4 gene: Interference with microRNA target sites and role in increased risk of cutaneous melanoma/doi:10.1016%2Fj.cancergen.2014.03.005/rivista:Cancer genetics (Online)/anno:2014/pagina_da:168/pagina_a:169/intervallo_pagine:168–169/volume:207

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd53a68d8507cba38859caaf1f5e08c
http://hdl.handle.net/11573/696003

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Molecular characterization of 11 Italian patients with Darier disease

Autor: Davide De Brasi, Luana Barboni, Stefania Boni, Lucia Pedace, Ada Amantea, Chiara Panetta, Giovanna Zambruno, Erika Pozzetto, Francesco Benedicenti, Marco Castori, Nicoletta Preziosi, Carmelilia De Bernardo, Paola Grammatico, Carmela Ferraro

Publikováno v: European journal of dermatology : EJD. 21(3)

Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852e1cd64d0cecc18d485ad0fdc553df
https://pubmed.ncbi.nlm.nih.gov/21527373

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6

Autor: Philippa Duncan, Carmelilia De Bernardo, David O. Robinson, Luana Barboni, Luigi Laino, Paola Grammatico, Marco Castori, Mauro Paradisi

Publikováno v: American journal of medical genetics. Part A. (8)

Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78efe6d4d2606d087fe67cc5053315f0
https://pubmed.ncbi.nlm.nih.gov/19610080

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Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5

Autor: Rosanna Rinaldi, Marco Castori, Luana Barboni, Paolo Tanzilli, Paola Grammatico, Michael J. Bamshad

Publikováno v: American journal of medical genetics. Part A. (3)

The distal arthrogryposes are a heterogeneous group of conditions characterized by congenital contractures of hands and feet, and autosomal dominant inheritance. The concurrence of ophthalmoplegia and additional ocular findings distinguish distal art

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0e7e64b219e152f2f1768d92ae5499
https://pubmed.ncbi.nlm.nih.gov/19213027

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