Associated Papers
Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.
Yin J et al.
Frontiers in Pediatrics, 2025
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2019
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine.
Schnipper N et al.
Cytometry. Part B, Clinical Cytometry, 2017
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM et al.
Rare Diseases (austin, Tex.), 2016
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L et al.
American Journal of Medical Genetics. Part A, 2013
Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.
Zwerger M et al.
Molecular Biology of the Cell, 2010
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Hoffmann K et al.
Nature Genetics, 2002
Dosage effect of zero to three functional LBR-genes in vivo and in vitro.
Gravemann S et al.
Nucleus (austin, Tex.), 0
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