(Q50449742)

14 March 2018

title

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. (English)

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14 March 2018

author

Paola Bianchi

7

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14 March 2018

author name string

M-J King

1

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14 March 2018

L Garçon

2

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14 March 2018

J D Hoyer

3

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14 March 2018

A Iolascon

4

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14 March 2018

V Picard

5

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14 March 2018

G Stewart

6

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14 March 2018

S-H Lee

8

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14 March 2018

A Zanella

9

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International Council for Standardization in Haematology

10

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14 March 2018

publication date

18 March 2015

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14 March 2018

International Journal of Laboratory Hematology

published in

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14 March 2018

volume

37

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14 March 2018

page(s)

304-325

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14 March 2018

issue

3

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14 March 2018

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An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells

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Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.

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Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

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South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.

21 January 2018

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The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

21 January 2018

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Dehydrated hereditary stomatocytosis with transient perinatal ascites

21 January 2018

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Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

21 January 2018

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Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

21 January 2018

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Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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THE OSMOTIC RESISTANCE (FRAGILITY) OF HUMAN RED CELLS

21 January 2018

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Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis.

21 January 2018

1 reference

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Toward the harmonization of result presentation for the eosin-5'-maleimide binding test in the diagnosis of hereditary spherocytosis

21 January 2018

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Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

21 January 2018

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Roadmap for harmonization of clinical laboratory measurement procedures

21 January 2018

1 reference

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Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis

21 January 2018

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Testing for hereditary spherocytosis: a French experience.

21 January 2018

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Flow cytometry test for hereditary spherocytosis

21 January 2018

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Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.

21 January 2018

1 reference

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FIJLH.12335

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FIJLH.12335

Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FIJLH.12335

Obstacles and opportunities for the future of genomic medicine

21 January 2018

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https://api.crossref.org/works/10.1111%2FIJLH.12335

Genomic characterization of the inherited bone marrow failure syndromes

21 January 2018

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https://api.crossref.org/works/10.1111%2FIJLH.12335

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

21 January 2018

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Causes of hemolysis in neonates with extreme hyperbilirubinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FIJLH.12335

Reduced deformability of circulating erythrocytes: A marker of hyposplenism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FIJLH.12335

21 January 2018

Identifiers

DOI

10.1111/IJLH.12335

1 reference

14 March 2018

PubMed ID

25790109

1 reference

14 March 2018