223 related articles for article (PubMed ID: 31193991)
1. 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]
2. 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]
3. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F; Symoens S; Goemans N; Gyftodimou Y; Holmberg E; López-González V; Mortier G; Nampoothiri S; Petersen MB; De Paepe A
Orphanet J Rare Dis; 2013 May; 8():78. PubMed ID: 23692737
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Symoens S; Steyaert W; Demuynck L; De Paepe A; Diderich KE; Malfait F; Coucke PJ
Am J Med Genet A; 2017 Apr; 173(4):1047-1050. PubMed ID: 28261977
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
Cabral WA; Makareeva E; Colige A; Letocha AD; Ty JM; Yeowell HN; Pals G; Leikin S; Marini JC
J Biol Chem; 2005 May; 280(19):19259-69. PubMed ID: 15728585
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Augusciak-Duma A; Witecka J; Sieron AL; Janeczko M; Pietrzyk JJ; Ochman K; Galicka A; Borszewska-Kornacka MK; Pilch J; Jakubowska-Pietkiewicz E
Acta Biochim Pol; 2018; 65(1):79-86. PubMed ID: 29543922
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Unequal Impact of
Yamaguti PM; de La Dure-Molla M; Monnot S; Cardozo-Amaya YJ; Baujat G; Michot C; Fournier BPJ; Riou MC; Caldas Rosa ECC; Soares de Lima Y; Dos Santos PAC; Alcaraz G; Guerra ENS; Castro LC; de Oliveira SF; Pogue R; Berdal A; de Paula LM; Mazzeu JF; Cormier-Daire V; Acevedo AC
J Dent Res; 2023 Jun; 102(6):616-625. PubMed ID: 36951356
[TBL] [Abstract][Full Text] [Related]
15. Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta.
Eimar H; Tamimi F; Retrouvey JM; Rauch F; Aubin JE; McKee MD
J Dent Res; 2016 Jul; 95(7):761-8. PubMed ID: 26951553
[TBL] [Abstract][Full Text] [Related]
16. Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Intarak N; Budsamongkol T; Theerapanon T; Chanamuangkon T; Srijunbarl A; Boonprakong L; Porntaveetus T; Shotelersuk V
Oral Dis; 2021 Jul; 27(5):1257-1267. PubMed ID: 32989910
[TBL] [Abstract][Full Text] [Related]
17. Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in
Lee Y; Kim YJ; Hyun HK; Lee JC; Lee ZH; Kim JW
J Pers Med; 2021 Jun; 11(6):. PubMed ID: 34201399
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
