143 related articles for article (PubMed ID: 29552444)
1. Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
Lu Y; Wang Y; Rauch F; Li H; Zhang Y; Zhai N; Zhang J; Ren X; Han J
Intractable Rare Dis Res; 2018 Feb; 7(1):37-41. PubMed ID: 29552444
[TBL] [Abstract][Full Text] [Related]
2. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in
Lin Z; Zeng J; Wang X
Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239369
[TBL] [Abstract][Full Text] [Related]
3. Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.
Shi X; Lu Y; Wang Y; Zhang YA; Teng Y; Han W; Han Z; Li T; Chen M; Liu J; Fang F; Dou C; Ren X; Han J
Intractable Rare Dis Res; 2015 Feb; 4(1):49-53. PubMed ID: 25674388
[TBL] [Abstract][Full Text] [Related]
4. Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.
Morabito LA; Allegri AEM; Capra AP; Capasso M; Capra V; Garaventa A; Maghnie M; Briuglia S; Wasniewska MG
Genes (Basel); 2022 Mar; 13(4):. PubMed ID: 35456387
[TBL] [Abstract][Full Text] [Related]
5. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S; Micale L; Ritelli M; Rohrbach M; Zoppi N; Vandersteen A; Mackay S; Agolini E; Cocciadiferro D; Sasaki E; Madeo A; Ferraris A; Reardon W; Di Rocco M; Novelli A; Grammatico P; Malfait F; Mazza T; Hakim A; Giunta C; Colombi M; Castori M
Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation in
Budsamongkol T; Intarak N; Theerapanon T; Yodsanga S; Porntaveetus T; Shotelersuk V
Genes Dis; 2019 Jun; 6(2):138-146. PubMed ID: 31193991
[TBL] [Abstract][Full Text] [Related]
7. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Mackenroth L; Fischer-Zirnsak B; Egerer J; Hecht J; Kallinich T; Stenzel W; Spors B; von Moers A; Mundlos S; Kornak U; Gerhold K; Horn D
Am J Med Genet A; 2016 Apr; 170A(4):1080-5. PubMed ID: 26799614
[TBL] [Abstract][Full Text] [Related]
8. COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E; Knight DRT; Thoreson EK; Baudhuin LM
Am J Med Genet C Semin Med Genet; 2023 Jun; 193(2):147-159. PubMed ID: 36896471
[TBL] [Abstract][Full Text] [Related]
9. First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
Chen F; Guo R; Itoh S; Moreno L; Rosenthal E; Zappitelli T; Zirngibl RA; Flenniken A; Cole W; Grynpas M; Osborne LR; Vogel W; Adamson L; Rossant J; Aubin JE
J Bone Miner Res; 2014 Jun; 29(6):1412-23. PubMed ID: 24443344
[TBL] [Abstract][Full Text] [Related]
10. An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.
Micha D; Pals G; Smit TH; Ghazanfari S
Biochem Biophys Res Commun; 2020 Jan; 521(2):310-317. PubMed ID: 31668813
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R; Yamaguchi T; Hayashi S; Sano S; Kawame H; Kanki S; Taketani T; Yoshimura H; Nakamura Y; Kosho T
Am J Med Genet A; 2022 Sep; 188(9):2560-2575. PubMed ID: 35822426
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
[TBL] [Abstract][Full Text] [Related]
15. Clinical screening for collagen defects in connective tissue diseases.
Cohn DH; Byers PH
Clin Perinatol; 1990 Dec; 17(4):793-809. PubMed ID: 2286029
[TBL] [Abstract][Full Text] [Related]
16. Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.
Balasubramanian M; Sobey GJ; Wagner BE; Peres LC; Bowen J; Bexon J; Javaid MK; Arundel P; Bishop NJ
Ultrastruct Pathol; 2016; 40(2):71-6. PubMed ID: 26863094
[TBL] [Abstract][Full Text] [Related]
17. Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.
Redman MG; Wagner BE; Cadden S; Baker D; Bowen JM; Johnson D; Sobey G; Balasubramanian M
Ultrastruct Pathol; 2021 Nov; 45(6):414-420. PubMed ID: 34538206
[TBL] [Abstract][Full Text] [Related]
18. Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome.
Prószyńska K; Wieczorek E; Olszaniecka M; Lorenc RS
Acta Paediatr; 1996 Jun; 85(6):688-91. PubMed ID: 8816205
[TBL] [Abstract][Full Text] [Related]
19. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
[TBL] [Abstract][Full Text] [Related]
20. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]