U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 50

1.
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten
Stem Cell Res. 2023 Jun; 69: 103080. doi: 10.1016/j.scr.2023.103080
PMCID:
PMC10240565
ArticlePubReaderCite
2.
Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases
Cody J Falls, Paul S Page, Garret P Greeneway, James A Stadler
Cureus. 2022 Jul; 14(7): e27020. Published online 2022 Jul 19. doi: 10.7759/cureus.27020
PMCID:
PMC9386322
ArticlePubReaderPDF–408KCite
3.
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
Moe Akahira-Azuma, Yumi Enomoto, Naoyuki Nakamura, Takayuki Yokoi, Mari Minatogawa, Noriaki Harada, Yoshinori Tsurusaki, Kenji Kurosawa
Hum Genome Var. 2022; 9: 16. Published online 2022 May 17. doi: 10.1038/s41439-022-00193-x
PMCID:
PMC9114327
ArticlePubReaderPDF–856KCite
4.
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
BMC Med Genomics. 2021; 14: 170. Published online 2021 Jun 28. doi: 10.1186/s12920-021-01020-y
PMCID:
PMC8240210
ArticlePubReaderPDF–1.5MCite
5.
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
Tangjun Zhou, Xiao Yang, Zhiqian Chen, Yifan Zhou, Xiankun Cao, Changqing Zhao, Jie Zhao
J Clin Lab Anal. 2021 Apr; 35(4): e23728. Published online 2021 Feb 16. doi: 10.1002/jcla.23728
PMCID:
PMC8059726
ArticlePubReaderPDF–1.3MCite
6.
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li
Mol Genet Genomic Med. 2020 Mar; 8(3): e1139. Published online 2020 Jan 23. doi: 10.1002/mgg3.1139
PMCID:
PMC7057085
ArticlePubReaderPDF–1.0MCite
7.
COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
Raffaella Nenna, Arianna Turchetti, Gerarda Mastrogiorgio, Fabio Midulla
Appl Clin Genet. 2019; 12: 235–238. Published online 2019 Dec 4. doi: 10.2147/TACG.S197205
PMCID:
PMC6900288
ArticlePubReaderPDF–261KCite
8.
Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress
Sidra Saleem, Arsalan Anwar, Pulwasha M Iftikhar, Zauraiz Anjum, Zemal Tariq
Cureus. 2019 Jul; 11(7): e5101. Published online 2019 Jul 8. doi: 10.7759/cureus.5101
PMCID:
PMC6728783
ArticlePubReaderPDF–872KCite
9.
Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
Εirini Dikaiakou, Εlpis A. Vlachopapadopoulou, Emanouil Manolakos, Panagiotis Samelis, Rodanthi Margariti, Christos Zampakides, Stefanos Michalacos
Mol Syndromol. 2019 Jan; 9(5): 241–246. Published online 2018 Aug 31. doi: 10.1159/000492190
PMCID:
PMC6362925
ArticlePubReaderPDF–968KCite
10.
The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study
Ali Al Kaissi, Sergey Ryabykh, Olga M. Pavlova, Polina Ochirova, Vladimir Kenis, Farid Ben Chehida, Rudolf Ganger, Franz Grill, Susanne Gerit Kircher
Medicine (Baltimore) 2019 Jan; 98(1): e13780. Published online 2019 Jan 4. doi: 10.1097/MD.0000000000013780
PMCID:
PMC6344193
ArticlePubReaderPDF–668KCite
11.
A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita
Yuichiro Ishida, Shizuka Koh, Takashi Kaito, Kohji Nishida
Case Rep Ophthalmol. 2018 Jan-Apr; 9(1): 138–142. Published online 2018 Feb 9. doi: 10.1159/000486847
PMCID:
PMC5892326
ArticlePubReaderPDF–788KCite
12.
A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
Qiuhong Xiong, Yi Liu, Yu Xue, Shichao Liu, Jing Wang, Ping Li, Changxin Wu, Yanling Yang, Han Xiao
Hum Genome Var. 2018; 5: 17059. Published online 2018 Jan 11. doi: 10.1038/hgv.2017.59
PMCID:
PMC5763142
ArticlePubReaderPDF–609KCite
13.
A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
Chieko Kusano, Masaki Takagi, Naoaki Hori, Jun Murotsuki, Gen Nishimura, Tomonobu Hasegawa
Hum Genome Var. 2017; 4: 17003. Published online 2017 Mar 2. doi: 10.1038/hgv.2017.3
PMCID:
PMC5332300
ArticlePubReaderPDF–448KCite
14.
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
Xiangjun Huang, Xiong Deng, Hongbo Xu, Song Wu, Lamei Yuan, Zhijian Yang, Yan Yang, Hao Deng
PLoS One. 2015; 10(6): e0127529. Published online 2015 Jun 1. doi: 10.1371/journal.pone.0127529
PMCID:
PMC4452087
ArticlePubReaderPDF–781KCite
15.
Structural Variations in Articular Cartilage Matrix Are Associated with Early-Onset Osteoarthritis in the Spondyloepiphyseal Dysplasia Congenita (Sedc) Mouse
David W. Macdonald, Ryan S. Squires, Shaela A. Avery, Jason Adams, Melissa Baker, Christopher R. Cunningham, Nicholas B. Heimann, David L. Kooyman, Robert E. Seegmiller
Int J Mol Sci. 2013 Aug; 14(8): 16515–16531. Published online 2013 Aug 9. doi: 10.3390/ijms140816515
PMCID:
PMC3759923
ArticlePubReaderPDF–2.3MCite
16.
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
G E Tiller, M A Weis, P A Polumbo, H E Gruber, D L Rimoin, D H Cohn, D R Eyre
Am J Hum Genet. 1995 Feb; 56(2): 388–395.
PMCID:
PMC1801144
SummaryPage BrowsePDF–1.9MCite
17.
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
I J Anderson, R B Goldberg, R W Marion, W B Upholt, P Tsipouras
Am J Hum Genet. 1990 May; 46(5): 896–901.
PMCID:
PMC1683599
SummaryPage BrowsePDF–1.1MCite
18.
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
W G Cole, R K Hall, J G Rogers
J Med Genet. 1993 Jan; 30(1): 27–35. doi: 10.1136/jmg.30.1.27
PMCID:
PMC1016230
SummaryPage BrowsePDF–3.4MCite
19.
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
I D Young, N R Ruggins, J M Somers, J M Zuccollo, N Rutter
J Med Genet. 1992 Nov; 29(11): 831–833. doi: 10.1136/jmg.29.11.831
PMCID:
PMC1016183
SummaryPage BrowsePDF–1.1MCite
20.
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia
Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang
Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811
PMCID:
PMC7019135
ArticlePubReaderPDF–1.6MCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center