Literature DB >> 18757847

Genotype/phenotype correlation in hereditary spherocytosis.

Achille Iolascon, Rosa Anna Avvisati.   

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Year:  2008        PMID： 18757847     DOI： 10.3324/haematol.13344

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  10 in total

1.  Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.

Authors:  Adrienne M Hammill; Mary A Risinger; Clinton H Joiner; Mehdi Keddache; Theodosia A Kalfa
Journal:  Br J Haematol       Date:  2011-01-31       Impact factor: 6.998

2.  Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics.

Authors:  Paola Bianchi; Elisa Fermo; Cristina Vercellati; Anna P Marcello; Laura Porretti; Agostino Cortelezzi; Wilma Barcellini; Alberto Zanella
Journal:  Haematologica       Date:  2011-11-04       Impact factor: 9.941

3.  Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.

Authors:  Silverio Perrotta; Fulvio Della Ragione; Francesca Rossi; Rosa Anna Avvisati; Daniela Di Pinto; Giovanna De Mieri; Saverio Scianguetta; Silvia Mancusi; Luigia De Falco; Vito Marano; Achille Iolascon
Journal:  Haematologica       Date:  2009-07-16       Impact factor: 9.941

4.  Severe intrauterine anemia: a new form of epsilongammagammadeltabeta thalassemia presenting in utero in a Norwegian family.

Authors:  Anne Brantberg; Sturla H Eik-Nes; Nigel Roberts; Chris Fisher; William G Wood
Journal:  Haematologica       Date:  2009-06-22       Impact factor: 9.941

Review 5.  Advances in understanding erythropoiesis: evolving perspectives.

Authors:  Satish K Nandakumar; Jacob C Ulirsch; Vijay G Sankaran
Journal:  Br J Haematol       Date:  2016-02-05       Impact factor: 6.998

6.  Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Authors:  Fei Xie; Lei Lei; Bin Cai; Lu Gan; Yu Gao; Xiaoying Liu; Lin Zhou; Jinjin Jiang
Journal:  Mol Genet Genomic Med       Date:  2021-02-23       Impact factor: 2.183

7.  Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis.

Authors:  Ledesma Achem Miryam Emilse; Haro Cecilia; Terán Magdalena María; Mónaco María Eugenia; Issé Blanca Alicia; Sandra Stella Lazarte
Journal:  Blood Res       Date:  2018-03-27

8.  A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

Authors:  Ti-Long Huang; Bao-Hua Sang; Qing-Ling Lei; Chun-Yan Song; Yun-Bi Lin; Yu Lv; Chun-Hui Yang; Na Li; Yue-Huang Yang; Xian-Wen Zhang; Xin Tian
Journal:  BMC Pediatr       Date:  2019-02-18       Impact factor: 2.125

9.  The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

Authors:  Annelies van Vuren; Bert van der Zwaag; Rick Huisjes; Nathalie Lak; Marc Bierings; Egbert Gerritsen; Eduard van Beers; Marije Bartels; Richard van Wijk
Journal:  Hemasphere       Date:  2019-08-07

10.  Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Authors:  Dong Wang; Li Song; Li Shen; Kaihui Zhang; Yuqiang Lv; Min Gao; Jian Ma; Ya Wan; Zhongtao Gai; Yi Liu
Journal:  Front Pharmacol       Date:  2021-07-16       Impact factor: 5.810
  10 in total

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