155 related articles for article (PubMed ID: 38027129)
1. Case Report: A novel
Mai Q; Han R; Chen Y; Shen K; Wang S; Zheng Q
Front Endocrinol (Lausanne); 2023; 14():1267252. PubMed ID: 38027129
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
Maasalu K; Nikopensius T; Kõks S; Nõukas M; Kals M; Prans E; Zhytnik L; Metspalu A; Märtson A
Hum Genomics; 2015 May; 9(1):6. PubMed ID: 25958000
[TBL] [Abstract][Full Text] [Related]
3. A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.
Huang H; Liu J; Zhang G
Clin Chim Acta; 2021 Jun; 517():133-138. PubMed ID: 33705765
[TBL] [Abstract][Full Text] [Related]
4. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Han Y; Wang D; Guo J; Xiong Q; Li P; Zhou YA; Zhao B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1366. PubMed ID: 32588564
[TBL] [Abstract][Full Text] [Related]
5. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.
Gug C; Caba L; Mozos I; Stoian D; Atasie D; Gug M; Gorduza EV
Gene; 2020 May; 741():144565. PubMed ID: 32165296
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.
Li R; Wang J; Wang L; Lu Y; Wang C
Mol Genet Genomic Med; 2020 Mar; 8(3):e1105. PubMed ID: 31898422
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
Zhang Y; Wu X; Liu Q; Yan X; Liu H; Feng D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):821-827. PubMed ID: 37368383
[TBL] [Abstract][Full Text] [Related]
8. Prenatal Cases Reflect the Complexity of the
Yang K; Liu Y; Wu J; Zhang J; Hu HY; Yan YS; Chen WQ; Yang SF; Sun LJ; Sun YQ; Wu QQ; Yin CH
Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140746
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B; Zhytnik L; Maasalu K; Kändla I; Prans E; Reimann E; Märtson A; Kõks S
Hum Genomics; 2016 Aug; 10(1):27. PubMed ID: 27519266
[TBL] [Abstract][Full Text] [Related]
10. Identification of a Rare Variant of c.1777G>A (p.G593S) in the
Zhuang J; Chen C; Chen Y; Luo Q; Wang Y; Jiang Y; Zeng S; Xie Y; Chen D
Front Pediatr; 2022; 10():816090. PubMed ID: 35463886
[TBL] [Abstract][Full Text] [Related]
11. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
Higuchi Y; Hasegawa K; Futagawa N; Yamashita M; Tanaka H; Tsukahara H
Mol Genet Genomic Med; 2021 Jun; 9(6):e1675. PubMed ID: 33939306
[TBL] [Abstract][Full Text] [Related]
12. Comparing Clinical and Genetic Characteristics of
Mei Y; Zhang H; Zhang Z
Front Endocrinol (Lausanne); 2022; 13():935905. PubMed ID: 35909573
[TBL] [Abstract][Full Text] [Related]
13. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
14. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y; Takeyari S; Nakano Y; Kitaoka T; Nakayama H; Bizaoui V; Yamamoto K; Miyata K; Yamamoto K; Fujiwara M; Kubota T; Michigami T; Yamamoto K; Yamamoto T; Namba N; Ebina K; Yoshikawa H; Ozono K
Osteoporos Int; 2019 Nov; 30(11):2333-2342. PubMed ID: 31363794
[TBL] [Abstract][Full Text] [Related]
15. CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells.
Cao Y; Li L; Ren X; Mao B; Yang Y; Mi H; Guan Y; Li S; Zhou S; Guan X; Yang T; Zhao X
J Bone Miner Res; 2023 May; 38(5):719-732. PubMed ID: 36734182
[TBL] [Abstract][Full Text] [Related]
16. Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
Ju M; Bai X; Zhang T; Lin Y; Yang L; Zhou H; Chang X; Guan S; Ren X; Li K; Wang Y; Li G
J Bone Miner Metab; 2020 Mar; 38(2):188-197. PubMed ID: 31414283
[TBL] [Abstract][Full Text] [Related]
17. De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.
Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
Mol Genet Genomic Med; 2019 Mar; 7(3):e559. PubMed ID: 30675999
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
[TBL] [Abstract][Full Text] [Related]
19. Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.
Yin X; Du Y; Zhang H; Wang Z; Wang J; Fu X; Cui Y; Chen C; Liang J; Xuan Z; Zhang X
J Hum Genet; 2018 Nov; 63(11):1129-1137. PubMed ID: 30131598
[TBL] [Abstract][Full Text] [Related]
20. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
Hum Genomics; 2019 Jun; 13(1):25. PubMed ID: 31159867
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
