Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Luciano Tiepolo"'
Publikováno v:
Hereditas. 62:105-115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d55385db08d772269478a3b09c3e87a2
https://doi.org/10.1111/j.1601-5223.1969.tb02224.x
https://doi.org/10.1111/j.1601-5223.1969.tb02224.x
Publikováno v:
Scandinavian Journal of Haematology. 8:293-306
A clinical, cytological and biological study of a 57-year-old man with a sideroblastic anaemia is presented. A large population of cells with 47 chromosomes and an extra C chromosome was found in the bone marrow cells but not in skin cells or lymphoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0913f8fb71b351ddf4a9c5b665c94a6c
https://doi.org/10.1111/j.1600-0609.1971.tb00878.x
https://doi.org/10.1111/j.1600-0609.1971.tb00878.x
Autor:
Giovanna Camerino, Sandrine Imbeaud, Filippo Uccellatore, Orietta Radi, Maria Rita Nasca, Paola Maraschio, Luciano Tiepolo, Pietro Parma, Giuseppe Micali
Publikováno v:
American Journal of Medical Genetics Part A. :241-246
We describe a large inbred Sicilian family that includes four 46, XX (SRY-) brothers. Palmoplantar hyperkeratosis (PPK) and an associated predisposition to squamous cell carcinoma (SCC) of the skin, segregates as a recessive trait within the family.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf5457aa0926c2dddbc4c4c930675c8
https://doi.org/10.1002/ajmg.a.30935
https://doi.org/10.1002/ajmg.a.30935
Autor:
Mohamad Maghnie, Cesare Danesino, A. Antoccia, Emanuela Spadoni, Ilja Demuth, A. Di Masi, Luciano Tiepolo, Caterina Tanzarella, Raymonda Varon, Paola Maraschio
Publikováno v:
Clinical Genetics. 63:283-290
Nijmegen breakage syndrome (NBS) is a rare, autosomal-recessive chromosome instability disorder characterized by growth and developmental defects, immunodeficiency, high susceptibility to lymphoid malignancies, hypersensitivity to ionizing radiation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1723fe7ef4eac72cc295da5bf7abedea
https://doi.org/10.1034/j.1399-0004.2003.00054.x
https://doi.org/10.1034/j.1399-0004.2003.00054.x
Publikováno v:
Cytogenetic and Genome Research. 65:256-260
Cytogenetic studies on an azoospermic male revealed a balanced Y;l translocation: 46, X, t(Y;l)(ql2;p34.3). In situ hybridization with the probe St35–239 (DXY64) and with a probe detecting telomeric sequences revealed that only the Y telomere is in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a124415c27b5949f35ca79229b068e7
https://doi.org/10.1159/000133642
https://doi.org/10.1159/000133642
Autor:
Alessandra di Masi, Raymonda Varon, Emanuela Spadoni, Gian Luigi Marseglia, Antonio Antoccia, Paola Maraschio, Caterina Tanzarella, Vanna Pecile, Eliana Demori, Luciano Tiepolo
Publikováno v:
Scopus-Elsevier
The frequency of spontaneous chromosome abnormalities in peripheral blood lymphocytes and the X-ray G2 sensitivity in lymphoblastoid cell lines (LCL) have been evaluated in heterozygous subjects from three unrelated Nijmegen Breakage Syndrome (NBS) f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d0e24150458061bbf2fa01a0b457cf
https://hdl.handle.net/11590/117596
https://hdl.handle.net/11590/117596
Autor:
André Reis, A. Antoccia, C Tanzarella, A Guala, R Ricordy, D Besana, Cesare Danesino, Paola Maraschio, Raymonda Varon, Luciano Tiepolo
Editor—Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder, characterised by microcephaly, bird-like face, growth retardation, immunodeficiency, cytogenetic abnormalities, increased radiosensitivity, and high susceptibility to l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89cc07e6a7ec389560062e812b89b52
https://europepmc.org/articles/PMC1734798/
https://europepmc.org/articles/PMC1734798/
Autor:
Laura Seghezzi, Luciano Tiepolo, Paola Maraschio, Antonietta Marchi, Mauro Bozzola, Rossella Tupler, E. Maserati
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9965c2406a194ea5ba08b033f0da1df9
https://hdl.handle.net/11380/459453
https://hdl.handle.net/11380/459453
Autor:
Laura Seghezzi, Paola Maraschio, Maria Pia Verri, Luciano Tiepolo, Emanuela Maserati, Rossella Tupler
Publikováno v:
Clinical Genetics. 54:159-160
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c28f2675dc5dbc17d74e1c11ebe9943
https://doi.org/10.1111/j.1399-0004.1998.tb03721.x
https://doi.org/10.1111/j.1399-0004.1998.tb03721.x
Publikováno v:
Clinical Genetics. 14:313-314
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30e614cb3cde9a55671504fd2cb4f05d
https://doi.org/10.1111/j.1399-0004.1978.tb02202.x
https://doi.org/10.1111/j.1399-0004.1978.tb02202.x