Zobrazeno 1 - 10
of 18
pro vyhledávání: '"D. C. Salpietro"'
Autor:
S. Gangemi, A. Saija, A. Tomaino, F. Cimino, R. A. Merendino, P. L. Minciullo, S. Briuglia, M. V. Merlino, B. Dallapiccola, B. Ferlazzo, D. C. Salpietro
Publikováno v:
Mediators of Inflammation, Vol 12, Iss 4, Pp 247-249 (2003)
Familiar chronic nail candidiasis (FCNC) is a rare disorder characterized by early-onset infections caused by different species of Candida, restricted to the nail of the hands and feet, and associated with a low serum concentration of intercellular a
Externí odkaz:
https://doaj.org/article/fd16a2e871a84679906ede48276f5572
Autor:
Antonio Novelli, M V Merlino, Rita Mingarelli, Silvana Briuglia, Bruno Dallapiccola, Laura Bernardini, D. C. Salpietro
Publikováno v:
American Journal of Medical Genetics. :165-169
A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a38d94f45a500f40f74ca9b0032d8e2
https://doi.org/10.1002/ajmg.a.30088
https://doi.org/10.1002/ajmg.a.30088
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
Autor:
Alessia Colosimo, Chiara Di Bella, Silvana Briuglia, Valentina Guida, Luciana Rigoli, Liborio Stuppia, Bruno Dallapiccola, D. C. Salpietro, Alessandro De Luca
Publikováno v:
Human Mutation. 21:622-629
Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209e6698f08bc28439f05eba44feba9b
https://doi.org/10.1002/humu.10215
https://doi.org/10.1002/humu.10215
Autor:
D. C. Salpietro, R. Caruso, Anna Meo, Luciana Rigoli, Ignazio Barberi, M. Ricca, K. Alessio, M. La Rosa, M.R. Miceli
Publikováno v:
Clinical & Laboratory Haematology. 23:373-378
The prevalence of eight mutations in 84 patients with beta-thalassaemia major and in 16 subjects with thalassaemia intermedia was investigated. All of the patients were Italian, originating from Eastern Sicily (Messina area) and some Calabrian region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ae348c13f8f6646a655be3c65b30361
https://doi.org/10.1046/j.1365-2257.2001.00367.x
https://doi.org/10.1046/j.1365-2257.2001.00367.x
Publikováno v:
Pediatric Allergy and Immunology. 15:570-572
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc52573cb7f4934597c1c293b70748f
https://doi.org/10.1111/j.1399-3038.2004.00189.x
https://doi.org/10.1111/j.1399-3038.2004.00189.x
Autor:
M V Merlino, Bruno Dallapiccola, Paola Lucia Minciullo, Silvana Briuglia, Sebastiano Gangemi, Antonio Tomaino, D. C. Salpietro, Giuseppe Bisignano, Francesco Cimino, Antonella Saija
Publikováno v:
Inflammation Research. 53:601-603
Familial chronic nail candidiasis (FCNC.MIM 607644) is a rare disorder characterized by early onset infections caused by different species of Candida and restricted to the nails; this disorder is genetically associated with low serum concentration of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b784aea42d522f9550d72ab359a8830
https://doi.org/10.1007/s00011-004-1306-9
https://doi.org/10.1007/s00011-004-1306-9
Autor:
Rosaria Alba Merendino, Francesco Cimino, Antonella Saija, M V Merlino, Silvana Briuglia, Sebastiano Gangemi, D. C. Salpietro, Antonio Tomaino, Paola Lucia Minciullo, Bruno Dallapiccola, B. Ferlazzo
Publikováno v:
Mediators of Inflammation
Mediators of Inflammation, Vol 12, Iss 4, Pp 247-249 (2003)
Mediators of Inflammation, Vol 12, Iss 4, Pp 247-249 (2003)
Familiar chronic nail candidiasis (FCNC) is a rare disorder characterized by early-onset infections caused by different species of Candida, restricted to the nail of the hands and feet, and associated with a low serum concentration of intercellular a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43baa758fac356cfb0e21e7911c27c87
https://doi.org/10.1080/09629350310001599693
https://doi.org/10.1080/09629350310001599693
Autor:
M V Merlino, Bruno Dallapiccola, Mario Vaccaro, D. C. Salpietro, Silvana Briuglia, Fabrizio Guarneri
Publikováno v:
Journal of the American Academy of Dermatology. 53(5 Suppl 1)
Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate men
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64eb7aa47111787f270eb1101432e85a
https://pubmed.ncbi.nlm.nih.gov/16227101
https://pubmed.ncbi.nlm.nih.gov/16227101
Autor:
Giandomenico Palka, Alessia Colosimo, Bruno Dallapiccola, Anna Scolari, D. C. Salpietro, Valentina Guida, Anna Meo, Alessandro De Luca, Luciana Rigoli
Beta-thalassemia, the most common hereditary anemia in the Mediterranean area, results from over 200 causative mutations in the beta-globin locus. The aim of this study was to validate a denaturing high-performance liquid chromatography (dHPLC)-based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539bdb6b2e806f05c294ad8aeefe26f4
http://hdl.handle.net/11570/1600695
http://hdl.handle.net/11570/1600695
Autor:
Daniela Zuccarello, Rita Mingarelli, M V Merlino, Silvana Briuglia, Sebastiano Gangemi, Bruno Dallapiccola, D. C. Salpietro, Luciana Rigoli, Massimo Mangino, G Bisignano
Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent infections of the skin, nails, and mucous membranes. We analysed a five-generation Italian fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b84639e219b3f4fc78c532e402fea09
http://hdl.handle.net/11570/1891596
http://hdl.handle.net/11570/1891596