156 related articles for article (PubMed ID: 36305178)
1. Association of osteogenesis imperfecta and glaucoma: case report.
Alpogan O
Ophthalmic Genet; 2023 Oct; 44(5):475-479. PubMed ID: 36305178
[TBL] [Abstract][Full Text] [Related]
2. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
3. Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.
Wallace DJ; Chau FY; Santiago-Turla C; Hauser M; Challa P; Lee PP; Herndon LW; Allingham RR
Mol Vis; 2014; 20():1174-81. PubMed ID: 25324685
[TBL] [Abstract][Full Text] [Related]
4. A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Lang SH; Gallo RA; Forghani I
Am J Med Genet A; 2022 Jun; 188(6):1885-1889. PubMed ID: 35243755
[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. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L; Uebe S; Sticht H; Vossmerbaeumer U; Weisschuh N; Manfredini E; Maselli E; Patrosso M; Weinreb RN; Penco S; Reis A; Pasutto F
Orphanet J Rare Dis; 2016 Aug; 11(1):108. PubMed ID: 27484908
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.
Treurniet S; Burger P; Ghyczy EAE; Verbraak FD; Curro-Tafili KR; Micha D; Bravenboer N; Ralston SH; de Vries R; Moll AC; Eekhoff EMW
Acta Ophthalmol; 2022 Feb; 100(1):e16-e28. PubMed ID: 34009739
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
Benusiené E; Kucinskas V
J Appl Genet; 2003; 44(1):95-102. PubMed ID: 12590186
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Hartikka H; Kuurila K; Körkkö J; Kaitila I; Grénman R; Pynnönen S; Hyland JC; Ala-Kokko L
Hum Mutat; 2004 Aug; 24(2):147-54. PubMed ID: 15241796
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L; Zhang H; Zhang ZL
J Bone Miner Metab; 2021 May; 39(3):416-422. PubMed ID: 33070251
[TBL] [Abstract][Full Text] [Related]
17. A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.
Numbere N; Weber DR; Porter G; Iqbal MA
Mol Genet Genomic Med; 2020 Jun; 8(6):e1241. PubMed ID: 32281310
[TBL] [Abstract][Full Text] [Related]
18. A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
Yang Q; Xu H; Luo J; Zhang Q; Xie B; Yi S; Rong X; Wang J; Qin Z; Jiang T; Lin L; Zuo Y; Fan X
Mol Med Rep; 2018 Mar; 17(3):4433-4439. PubMed ID: 29344653
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
Hasegawa K
Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]