Zobrazeno 1 - 10
of 430
pro vyhledávání: '"S, Cutillo"'
Autor:
S Cutillo, Leonilde Pagano, Emanuele Miraglia del Giudice, Silverio Perrotta, Giovanni Colonna, Filomena de Angelis, Achille Iolascon
Publikováno v:
British Journal of Haematology. 89:933-936
We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha I/78 peptide in spectrin digest. Clinical phenotype varied among the family members ranging from asymptomatic to mild haemolytic HE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58c2055f10cffcfb42d77f333952d5a7
https://doi.org/10.1111/j.1365-2141.1995.tb08443.x
https://doi.org/10.1111/j.1365-2141.1995.tb08443.x
Akademický článek
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Autor:
E. Miraglia del Giudice, Maria Luisa Conte, S Cutillo, Bruno Nobili, Matteo Francese, Achille Iolascon, C Lombardi, Silverio Perrotta, Giovanni Amendola
Publikováno v:
British Journal of Haematology. 101:251-254
This report represents an attempt to define the rate of beta-spectrin de novo mutations affecting mRNA accumulation in patients with hereditary spherocytosis (HS). 19 HS children with haematologically normal parents and varying degrees of spectrin de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a9b3e5910ceb59820ddf0b243c160f
https://doi.org/10.1046/j.1365-2141.1998.00688.x
https://doi.org/10.1046/j.1365-2141.1998.00688.x
Autor:
Philippe Maillet, S Cutillo, Emanuele Miraglia del Giudice, AgnÉs Vallier, Michael J. A. Tanner, Jean Delaunay, Nicole Alloisio, Silverio Perrotta, Achille Iolascon
Publikováno v:
British Journal of Haematology. 96:70-76
We report three novel variants of band 3 associated with hereditary spherocytosis: band 3 Foggia (311delC; ACCCAC-->ACCAC), band 3 Napoli I (447insT; TCT-->TTCT) and band 3 Napoli II (1783N; ATC-->AAC). The first two mutations resulted in premature t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417a1e01650760e144f477e95175b857
https://doi.org/10.1046/j.1365-2141.1997.8732504.x
https://doi.org/10.1046/j.1365-2141.1997.8732504.x
Autor:
E. Miraglia del Giudice, L. Pinto, N Alloisio, J. Delaunay, Silverio Perrotta, S Cutillo, Achille Iolascon, G Sciarratta
Publikováno v:
Blood. 83:3346-3349
We report a new mutation responsible for nonhemolytic hereditary elliptocytosis (HE). The proband displayed an impaired spectrin self- association and an increase of the alpha I 74-kD fragment (alpha I/74 abnormality). The responsible mutation occurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4759a99600671063c542ac80b71fe2c0
https://doi.org/10.1182/blood.v83.11.3346.bloodjournal83113346
https://doi.org/10.1182/blood.v83.11.3346.bloodjournal83113346
Akademický článek
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Autor:
Silverio Perrotta, Manuela Badiali, Achille Iolascon, S Cutillo, Gp Tonini, Em Delgiudice, Andrea Pession, Giuseppe Basso, L Losi
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
Single point mutations of ras oncogenes are found in many tumors and contribute to the pathogenesis of the cancer. The product of the ras gene, p21 protein, was found expressed in several neuroblastoma tissues. However, the role of ras gene in this t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5519b8d45f08bb28ce078e75b167e4c1
https://hdl.handle.net/11380/612101
https://hdl.handle.net/11380/612101
Autor:
J. Delaunay, S Cutillo, Achille Iolascon, Nicole Alloisio, R. Wilmotte, Ducluzeau Mt, del Giudice Em, Silverio Perrotta
Publikováno v:
Human Genetics. 89
Alpha(I/65) Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 154(1) (leucine) of alpha-spectrin and is associated with a constant haplotype. It was encountered exclusively in African and American Blacks, and in North Africans. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d968d3e3f1cf7af4797c1be0dd3dfa3
https://doi.org/10.1007/bf00219183
https://doi.org/10.1007/bf00219183
Autor:
IOLASCON, ACHILLE, E. M. DELGIUDICE, S. PERROTTA, L. PINTO, G. FIORELLI, D. M. CAPPELLINI, C. VASSEUR, E. BURSAUX, S. CUTILLO
Background. Hereditary spherocytosis encopasses a heterogenous group of inherited disorders due to alteration of r.b.c. surface/volume ratio. Spectrin deficiency is the most common observed defect. We analyzed a case of HS associated with band 3 defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::4065595e48e5cc036cef46732fc6c090
http://hdl.handle.net/11588/463816
http://hdl.handle.net/11588/463816