Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray-Reference-Cited by-同舟云学术

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray

Published:2009-12-23 Issue:1 Volume:152A Page:133-140
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Narumi Satoshi,Numakura Chikahiko,Shiihara Takashi,Seiwa Chizuru,Nozaki Yasuyuki,Yamagata Takanori,Momoi Mariko Y.,Watanabe Yoriko,Yoshino Makoto,Matsuishi Toyojiro,Nishi Eriko,Kawame Hiroshi,Akahane Tsutomu,Nishimura Gen,Emi Mitsuru,Hasegawa Tomonobu

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33177/fullpdf

Reference23 articles.

1. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome;Ai;Am J Hum Genet,2005

2. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA;Barrett;Proc Natl Acad Sci USA,2004

3. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats;Chung;Hum Mutat,2009

4. Epidemiology and outcomes of osteoporotic fractures;Cummings;Lancet,2002

5. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases;de Smith;Hum Mol Genet,2007

Cited by 31 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. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09

2. Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass;Osteoporosis International;2024-04-16

3. Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know;Current Osteoporosis Reports;2024-04-11

4. Mutation spectrum in a cohort with familial exudative vitreoretinopathy;Molecular Genetics & Genomic Medicine;2022-07-25

5. Understanding Musculoskeletal Disorders Through Next-Generation Sequencing;JBJS Reviews;2022-04