429 related articles for article (PubMed ID: 31239369)
21. 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]
22. 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]
23. 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]
24. 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]
25. Gonosomal Mosaicism for a Novel
Micale L; Foiadelli T; Russo F; Cinque L; Bassanese F; Granatiero M; Fusco C; Savasta S; Castori M
Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946877
[TBL] [Abstract][Full Text] [Related]
26. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
[TBL] [Abstract][Full Text] [Related]
27. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.
Chiu WC; Chen SH; Lo MC; Kuo YT
BMC Pediatr; 2020 Oct; 20(1):495. PubMed ID: 33109150
[TBL] [Abstract][Full Text] [Related]
28. Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
Ackermann AM; Levine MA
Am J Med Genet A; 2017 Jul; 173(7):1907-1912. PubMed ID: 28436160
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
Symoens S; Malfait F; Vlummens P; Hermanns-Lê T; Syx D; De Paepe A
PLoS One; 2011; 6(5):e20121. PubMed ID: 21611149
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
Errichiello E; Malara A; Grimod G; Avolio L; Balduini A; Zuffardi O
Eur J Med Genet; 2021 Jan; 64(1):104099. PubMed ID: 33189937
[TBL] [Abstract][Full Text] [Related]
33. Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.
Stock F; Hanisch M; Lechner S; Biskup S; Bohring A; Zschocke J; Kapferer-Seebacher I
Biomolecules; 2021 Jan; 11(2):. PubMed ID: 33498938
[TBL] [Abstract][Full Text] [Related]
34. Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
Makareeva E; Cabral WA; Marini JC; Leikin S
J Biol Chem; 2006 Mar; 281(10):6463-70. PubMed ID: 16407265
[TBL] [Abstract][Full Text] [Related]
35. [Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].
Ju M; Zhang T; Bai X; Ren X; Li K; Li G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):140-4. PubMed ID: 27060301
[TBL] [Abstract][Full Text] [Related]
36. Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.
Lu Y; Ren X; Wang Y; Li T; Li F; Wang S; Xu C; Wu G; Li H; Li G; Zhao F; Wang Z; Mo X; Han J
Clin Endocrinol (Oxf); 2014 Apr; 80(4):524-31. PubMed ID: 24147872
[TBL] [Abstract][Full Text] [Related]
37. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
[TBL] [Abstract][Full Text] [Related]
38. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H; Yue H; Wang C; Hu W; Gu J; He J; Fu W; Hu Y; Li M; Zhang Z
Mol Med Rep; 2016 Nov; 14(5):4918-4926. PubMed ID: 27748872
[TBL] [Abstract][Full Text] [Related]
39. Identification of Two Independent
Bauer A; Bateman JF; Lamandé SR; Hanssen E; Kirejczyk SGM; Yee M; Ramiche A; Jagannathan V; Welle M; Leeb T; Bateman FL
Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31546637
[TBL] [Abstract][Full Text] [Related]
40. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
Borck G; Beighton P; Wilhelm C; Kohlhase J; Kubisch C
Am J Med Genet A; 2010 Aug; 152A(8):2090-3. PubMed ID: 20635400
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]