Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations inLBR-Reference-Cited by-同舟云学术

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations inLBR

Published:2013-07-03 Issue:8 Volume:161 Page:2066-2073
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Borovik Lior¹,Modaff Peggy¹,Waterham Hans R.²,Krentz Anthony D.³,Pauli Richard M.¹

Affiliation:

1. Department of Pediatrics; University of Wisconsin-Madison; Madison; Wisconsin

2. Laboratory Genetic Metabolic Disease; Academic Medical Center; University of Amsterdam; The Netherlands

3. Prevention Genetics; Marshfield; Wisconsin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36019/fullpdf

Reference47 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. In vivo phosphorylation of the lamin B receptor. Binding of lamin B to its nuclear membrane receptor is affected by phosphorylation;Appelbaum;J Biol Chem,1990

3. Homozygous form of the Pelger-Huët leukocyte anomaly in man;Aznar;Acta Haematol,1981

4. Lamin B-receptor mutations in Pelger-Huët anomaly;Best;Br J Haematol,2003

5. Studies of the Pelger-Huët anomaly in foxhounds;Bowles;Am J Pathol,1979

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Tuning between Nuclear Organization and Functionality in Health and Disease;Cells;2023-02-23

2. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants;Bone;2023-02

3. Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors;Frontiers in Genetics;2023-01-13

4. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly;The American Journal of Human Genetics;2022-10

5. Genetic architecture of band neutrophil fraction in Iceland;Communications Biology;2022-06-01