Zobrazeno 1 - 10
of 88
pro vyhledávání: '"L. Artifoni"'
Autor:
Rossella Torregrossa, L. Artifoni, Antonio Lupo, Cataldo Abaterusso, Antonia Fabris, Alessia Gozzini, Annalisa Tanini, Dorella Del Prete, Nicola Marchionna, Angela D'Angelo, Franca Anglani, Giovanni Gambaro, Rosalba Cristofaro
Publikováno v:
Clinical Journal of the American Society of Nephrology. 5:1205-1210
Background and objectives: Medullary sponge kidney (MSK) is a rare nephropathy characterized by cystic anomalies of precalyceal ducts, nephrocalcinosis, renal stones, and tubule dysfunctions. Its association with various malformations and cases of fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3819d64412c4958a9664600479f2cc78
https://doi.org/10.2215/cjn.07551009
https://doi.org/10.2215/cjn.07551009
Autor:
Ugo Vertolli, Josef Nachtigal, Augusto Antonello, Ermanno De Paoli Vitali, R. Graziotto, Michele Piva, Riccardo Zagatti, Franca Anglani, Angela D'Angelo, Enrica Tosetto, Carmelo Cascone, Giovanni Gambaro, L. Artifoni, L. Citron, Federico Nalesso, Antonio Lupo, Piero Conz, Roberto Dell'Aquila
Publikováno v:
Journal of Human Genetics. 51:25-30
Dent’s disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f288167a68b4a6cbe5ebc1f52315d917
https://doi.org/10.1007/s10038-005-0317-x
https://doi.org/10.1007/s10038-005-0317-x
In the era of prevention and early diagnosis, mental retardation (MR) represents one of the most important challenges to modern medicine. Much needs to be done to restrict the number of different forms of this vast category of chronic handicaps for w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf3ce639aff8d3a4e6a42581a1d025e
http://hdl.handle.net/11577/146039
http://hdl.handle.net/11577/146039
Autor:
L. Suslak, Albert Schinzel, J. Wagstaff, Ling-Yu Shih, Carlo Baccichetti, H. Aviv, F. Bernasconi, Wendy P. Robinson, L. Artifoni, Emilio Franzoni
Publikováno v:
Scopus-Elsevier
A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562f6529ff933505728916ee9f29e085
https://europepmc.org/articles/PMC1016533/
https://europepmc.org/articles/PMC1016533/
Publikováno v:
American journal of medical genetics. 41(2)
This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2890d4775b8fa77a214dfda9e145a0f9
https://pubmed.ncbi.nlm.nih.gov/1785643
https://pubmed.ncbi.nlm.nih.gov/1785643
Publikováno v:
Annales de genetique. 34(1)
The authors report on cytogenetic results of six patients with hypomelanosis of Ito. Karyotypes from peripheral lymphocytes prometaphases and skin fibroblasts metaphases were normal. A review of the literature revealed no specific chromosomal abnorma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bbe4d34a55da4d758152995aa10e8c3
https://pubmed.ncbi.nlm.nih.gov/1952789
https://pubmed.ncbi.nlm.nih.gov/1952789
Autor:
E. Piovan, D. Heller, P. Kahn, S. Shin, G. Goppion, S.S. Tevethia, Colin V. Beechey, F. Anglani, R.A. Mulivor, Maggie Kirk, Frank H. Ruddle, P.W. Melera, Warren W. Nichols, U.H. Wiberg, Joseph P. Davide, L.L. Coriell, L. Artifoni, A.E. Greene, V.J. Goyanes, C. Baccichetti, M. Roberts, Edward P. Evans, M.M. Aronson, E. Lenzini, J.B. Schvartzman, K.-H. Choi, Dirk G. de Rooij, M.L. Figueroa, A.G. Searle, R. Tenconi, J.T. Hart, B.K. Vig, L. Christidis, P. de Boer
Publikováno v:
Cytogenetic and Genome Research. 36:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f0f946f5b892c844904996e074529e4
https://doi.org/10.1159/000131980
https://doi.org/10.1159/000131980
Publikováno v:
Cancer Genetics and Cytogenetics. 4:275-279
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5740cdeee911aa4eed2219a4b038084
https://doi.org/10.1016/0165-4608(81)90021-2
https://doi.org/10.1016/0165-4608(81)90021-2
Publikováno v:
Pathologica. 71(1013)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::09a4bf0e208fe58ad4a6086db5c6f783
https://pubmed.ncbi.nlm.nih.gov/548890
https://pubmed.ncbi.nlm.nih.gov/548890
Publikováno v:
Annales de genetique. 31(3)
Three subjects from 2 unrelated families with partial duplication of 17q, derived from a reciprocal parental translocation between chromosomes 11 and 17 with different breakpoints, are described. A female patient from one family with a 46,XX,-11,+der
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e98812db9daf73d825ffee7f5363ed53
https://pubmed.ncbi.nlm.nih.gov/3265610
https://pubmed.ncbi.nlm.nih.gov/3265610