Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 4, 2023. (Total: 223640Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 10 (of 10 Records)

Query Trace: Multiple Epiphyseal Dysplasia 6[original query]
Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.
Journal of human genetics 2001 46 (8): 456-62.
Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
American journal of medical genetics. Part A 2004 Aug 129A (1): 35-8.
Mabuchi Akihiko, Momohara Shigeki, Ohashi Hirofumi, Takatori Yoshio, Haga Nobuhiko, Nishimura Gen, Ikegawa Shi
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
European journal of human genetics : EJHG 2005 Mar 13 (3): 292-301.
Jakkula Eveliina, Mäkitie Outi, Czarny-Ratajczak Malwina, Czarny-Ratacjzak Malwina, Jackson Gail C, Damignani Rita, Susic Miki, Briggs Michael D, Cole William G, Ala-Kokko Lee
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
American journal of medical genetics. Part A 2011 Nov 155A (11): 2669-80.
Kim Ok-Hwa, Park Hyunwoong, Seong Moon-Woo, Cho Tae-Joon, Nishimura Gen, Superti-Furga Andrea, Unger Sheila, Ikegawa Shiro, Choi In Ho, Song Hae-Ryong, Kim Hyun Woo, Yoo Won Joon, Shim Jong Sup, Chung Chin Youb, Oh Chang-Wug, Jeong Changhoon, Song Kwang Soon, Seo Sang Gyo, Cho Sung Im, Yeo Im Kyung, Kim So Yeon, Park Seungman, Park Sung S
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
BMC musculoskeletal disorders 2014 15 (1): 84.
Seo Sang Gyo, Song Hae-Ryong, Kim Hyun Woo, Yoo Won Joon, Shim Jong Sup, Chung Chin Youb, Park Moon Seok, Oh Chang-Wug, Jeong Changhoon, Song Kwang Soon, Kim Ok-Hwa, Park Sung Sup, Choi In Ho, Cho Tae-Jo
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Human genetics 2018 10 137 (11-12): 905-909.
Shelihan Ivan, Ehresmann Sophie, Magnani Cinzia, Forzano Francesca, Baldo Chiara, Brunetti-Pierri Nicola, Campeau Philippe
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
American journal of medical genetics. Part A 2019 2 179 (4): 534-541.
Dasa Vinod, Eastwood James R B, Podgorski Michal, Park Heewon, Blackstock Christopher, Antoshchenko Tetyana, Rogala Piotr, Bieganski Tadeusz, Jazwinski S Michal, Czarny-Ratajczak Malwi
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Calcified tissue international 2021 10 110 (3): 313-323.
Liang Hanting, Hou Yanfang, Pang Qianqian, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Zhu Huijuan, Xia Wei
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
European journal of medical genetics 2022 1 65 (2): 104426.
Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Molecular syndromology 2023 1 13 (6): 485-495.
Silveira Cynthia, da Costa Silveira Karina, Lacarrubba-Flores Maria D, Sakata Maurício T, Carbognani Silvia N, Llerena Juan, Moreno Carolina A, Cavalcanti Denise
TOP