Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Emanuele Miraglia Del Giudice"'
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
Autor:
Stefan W. Eber, Bruno Nobili, Matteo Francese, Emanuele Miraglia del Giudice, Achille Iolascon, Silverio Perrotta, Luigi D’Urso
Publikováno v:
British Journal of Haematology. 112:42-47
About 75% of hereditary spherocytosis (HS) patients have the autosomal dominant form of the disease, whereas both parents of the remaining HS patients are clinically and haematologically normal. These patients could have either the autosomal recessiv
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
Autor:
Emanuele Miraglia del Giudice, Achille Iolascon, Francesco Schettini, Maria Felicia Faienza, Fulviodella Ragione, B Coppola, Guiseppe Basso
Publikováno v:
Scopus-Elsevier
Acute leukaemias are characterized by non-random chromosomal aberrations which are often strictly related to the inactivation of tumour suppressor genes (TSGs). Alterations at the short arm of chromosome 9 have been reported in a remarkable percentag
Autor:
Emanuele Miraglia del Giudice, Silverio Perrotta, Carlo De Rosa, Claudia Calabro, Laura Perrone, Luigi Esposito, Anna Saviano, Maria Teresa Carbone, Rosario Di Toro
Publikováno v:
British Journal of Haematology. 105:839-840