Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia-Reference-Cited by-同舟云学术

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Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia

Published:2006-07-11 Issue:8 Volume:51 Page:706-710
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hirose Yuichiro,Nakashima Eiji,Ohashi Hirofumi,Mochizuki Hiroshi,Bando Yuki,Ogata Tsutomu,Adachi Masanori,Toba Emi,Nishimura Gen,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2006107.pdf

Reference15 articles.

1. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263–265

2. Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61(2):146–151

3. Bonafe L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A (2005) Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. Plos Genet 1(4):e47

4. Castriota-Scanderbeg A, Dallapiccola B, Mingarelli R, Kozlowski K (2001) Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. Am J Med Genet 99(4):289–293

5. Harada D, Yamanaka Y, Ueda K, Shimizu J, Inoue M, Seino Y, Tanaka H (2005) An effective case of growth hormone treatment on cartilage-hair hypoplasia. Bone 36(2):317–322

Cited by 20 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. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients;Scientific Reports;2024-06-11

2. RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review;American Journal of Medical Genetics Part A;2024-02-09

3. Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis;Internal Medicine;2021-11-01

4. Immunodeficiency in cartilage‐hair hypoplasia: Pathogenesis, clinical course and management;Scandinavian Journal of Immunology;2020-06-22

5. A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia;Frontiers in Immunology;2019-07-16

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