Isolated Case of Dentinogenesis Imperfecta with a mutation in COL1A1 gene

被引:0
作者
Villasmil, Maria Parra [1 ]
Curtis, Vanessa [1 ]
机构
[1] Univ Iowa Hosp & Clin, Iowa City, IA 52242 USA
来源
HORMONE RESEARCH IN PAEDIATRICS | 2022年 / 95卷 / SUPPL 1期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
5031
引用
收藏
页码:104 / 105
页数:2
相关论文
共 50 条
[41]   COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India [J].
Selina, Agnes ;
Kandagaddala, Madhavi ;
Thomas, Nihal ;
Paul, Thomas ;
Chapla, Aaron ;
Danda, Sumita ;
Madhuri, Vrisha .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (07)
[42]   Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta [J].
Lindert, U. ;
Gnoli, M. ;
Maioli, M. ;
Bedeschi, M. F. ;
Sangiorgi, L. ;
Rohrbach, M. ;
Giunta, C. .
CALCIFIED TISSUE INTERNATIONAL, 2018, 102 (03) :373-379
[43]   A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE [J].
Galia Gat-Yablonski ;
Liat Ries ;
D. Lev ;
Boleslaw Goldman ;
E. Friedman .
Human Genetics, 1997, 101 :22-25
[44]   A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE [J].
GatYablonski, G ;
Ries, L ;
Lev, D ;
Goldman, B ;
Friedman, E .
HUMAN GENETICS, 1997, 101 (01) :22-25
[45]   Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta [J].
U. Lindert ;
M. Gnoli ;
M. Maioli ;
M.F. Bedeschi ;
L. Sangiorgi ;
M. Rohrbach ;
C. Giunta .
Calcified Tissue International, 2018, 102 :373-379
[46]   A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model [J].
Huang, Huan ;
Liu, Jiamei ;
Zhang, Guoying .
CLINICA CHIMICA ACTA, 2021, 517 :133-138
[47]   A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta [J].
Fan, N. ;
Jonas, J. B. ;
He, F. ;
Yan, N. H. ;
Wang, Y. ;
Liu, L. ;
Liu, D. L. ;
Zhao, L. ;
Pang, I. -H. ;
Liu, X. Y. .
GENETICS AND MOLECULAR RESEARCH, 2015, 14 (04) :15295-15300
[48]   A novel nonsense variant in COL1A1 gene in a family with clinical symptoms of osteogenesis imperfecta [J].
Kandemir, N. ;
Kazimli, U. ;
Dirican, O. A. ;
Dundar, M. .
JOURNAL OF BIOTECHNOLOGY, 2019, 305 :S88-S88
[49]   Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta [J].
Chafitz, Olivia B. ;
Feigenblum, Nicole S. ;
Haddad, Andrew S. ;
Abdelhak, Yaakov E. ;
Oladipo, Antonia F. .
PRENATAL DIAGNOSIS, 2024, 44 (04) :398-400
[50]   Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions [J].
Ghalib Bardai ;
Emmanuelle Lemyre ;
Pierre Moffatt ;
Telma Palomo ;
Francis H. Glorieux ;
Joanna Tung ;
Leanne Ward ;
Frank Rauch .
Calcified Tissue International, 2016, 98 :76-84