177 related articles for article (PubMed ID: 24891183)
21. Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Yassaee VR; Khojasteh A; Hashemi-Gorji F; Sadeghi H; Safiaghdam H; Mirfakhraie R
Mol Genet Genomic Med; 2022 Sep; 10(9):e2004. PubMed ID: 35758145
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S; Majewski J; Mort J; Moffatt P; Glorieux FH; Rauch F
J Med Genet; 2013 May; 50(5):345-8. PubMed ID: 23434763
[TBL] [Abstract][Full Text] [Related]
24. Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.
Takagi M; Hori N; Chinen Y; Kurosawa K; Tanaka Y; Oku K; Sakata H; Fukuzawa R; Nishimura G; Spranger J; Hasegawa T
Am J Med Genet A; 2011 Sep; 155A(9):2269-73. PubMed ID: 21834035
[TBL] [Abstract][Full Text] [Related]
25. Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Marshall CJ; Arundel P; Mushtaq T; Offiah AC; Pollitt RC; Bishop NJ; Balasubramanian M
Am J Med Genet A; 2016 Dec; 170(12):3303-3307. PubMed ID: 27549894
[TBL] [Abstract][Full Text] [Related]
26. Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z; Zhang Y; Zhu L; Cui Y; Gao Y; Zhou CX
Mol Genet Genomic Med; 2024 Jan; 12(1):e2277. PubMed ID: 37649308
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.
Kishta W; Abduljabbar FH; Gdalevitch M; Rauch F; Hamdy R; Fassier F
J Pediatr Orthop; 2017; 37(7):479-483. PubMed ID: 26371943
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC; Saraff V; Dalton A; Webb EA; Shaw NJ; Sobey GJ; Mughal MZ; Hobson E; Ali F; Bishop NJ; Arundel P; Högler W; Balasubramanian M
Am J Med Genet A; 2016 Dec; 170(12):3150-3156. PubMed ID: 27576954
[TBL] [Abstract][Full Text] [Related]
30. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
Jin L; Liu Y; Sun F; Collins MT; Blackwell K; Woo AS; Reichenberger EJ; Hu Y
Sci Rep; 2017 Feb; 7():40935. PubMed ID: 28176803
[TBL] [Abstract][Full Text] [Related]
31. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
Qin W; He JX; Shi J; Xing QH; Gao JJ; He L; Qian XQ; Liu ZJ; Shu AL; He L
Yi Chuan Xue Bao; 2005 Mar; 32(3):248-52. PubMed ID: 15931785
[TBL] [Abstract][Full Text] [Related]
32. Molecular heterogeneity in osteogenesis imperfecta type I.
Willing MC; Pruchno CJ; Byers PH
Am J Med Genet; 1993 Jan; 45(2):223-7. PubMed ID: 8456806
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
Ries-Levavi L; Ish-Shalom T; Frydman M; Lev D; Cohen S; Barkai G; Goldman B; Byers P; Friedman E
Hum Mutat; 2004 Apr; 23(4):399-400. PubMed ID: 15024745
[TBL] [Abstract][Full Text] [Related]
35. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Andreeva TV; Tyazhelova TV; Rykalina VN; Gusev FE; Goltsov AY; Zolotareva OI; Aliseichik MP; Borodina TA; Grigorenko AP; Reshetov DA; Ginter EK; Amelina SS; Zinchenko RA; Rogaev EI
Sci Rep; 2016 May; 6():26440. PubMed ID: 27216912
[TBL] [Abstract][Full Text] [Related]
36. TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
Di Zanni E; Gradogna A; Picco C; Scholz-Starke J; Boccaccio A
Hum Mutat; 2020 Jun; 41(6):1157-1170. PubMed ID: 32112655
[TBL] [Abstract][Full Text] [Related]
37. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
Gajko-Galicka A
Acta Biochim Pol; 2002; 49(2):433-41. PubMed ID: 12362985
[TBL] [Abstract][Full Text] [Related]
38. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Shaheen R; Alazami AM; Alshammari MJ; Faqeih E; Alhashmi N; Mousa N; Alsinani A; Ansari S; Alzahrani F; Al-Owain M; Alzayed ZS; Alkuraya FS
J Med Genet; 2012 Oct; 49(10):630-5. PubMed ID: 23054245
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.
Tanner L; Vainio P; Sandell M; Laine J
Pediatr Dev Pathol; 2017; 20(5):455-459. PubMed ID: 28812463
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]