188 related articles for article (PubMed ID: 26951553)
1. 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]
2. 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]
3. 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]
4. Dental and craniofacial defects in the Crtap
Xu H; Lenhart SA; Chu EY; Chavez MB; Wimer HF; Dimori M; Somerman MJ; Morello R; Foster BL; Hatch NE
Dev Dyn; 2020 Jul; 249(7):884-897. PubMed ID: 32133710
[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. Behavioral signs of pain and functional impairment in a mouse model of osteogenesis imperfecta.
Abdelaziz DM; Abdullah S; Magnussen C; Ribeiro-da-Silva A; Komarova SV; Rauch F; Stone LS
Bone; 2015 Dec; 81():400-406. PubMed ID: 26277094
[TBL] [Abstract][Full Text] [Related]
7. Tendon properties in a mouse model of severe osteogenesis imperfecta.
Sinkam L; Boraschi-Diaz I; Svensson RB; Kjaer M; Komarova SV; Bergeron R; Rauch F; Veilleux LN
Connect Tissue Res; 2023 May; 64(3):285-293. PubMed ID: 36576243
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. 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]
11. Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders.
De Coster PJ; Cornelissen M; De Paepe A; Martens LC; Vral A
Arch Oral Biol; 2007 Feb; 52(2):101-9. PubMed ID: 17118335
[TBL] [Abstract][Full Text] [Related]
12. Exploration of the skeletal phenotype of the
Claeys L; Zhytnik L; Wisse LE; van Essen HW; Eekhoff EMW; Pals G; Bravenboer N; Micha D
Front Endocrinol (Lausanne); 2023; 14():1145125. PubMed ID: 36967771
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
Andersson K; Dahllöf G; Lindahl K; Kindmark A; Grigelioniene G; Åström E; Malmgren B
PLoS One; 2017; 12(5):e0176466. PubMed ID: 28498836
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta.
Roschger A; Roschger P; Keplingter P; Klaushofer K; Abdullah S; Kneissel M; Rauch F
Bone; 2014 Sep; 66():182-8. PubMed ID: 24953712
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta.
Jacobsen CM; Schwartz MA; Roberts HJ; Lim KE; Spevak L; Boskey AL; Zurakowski D; Robling AG; Warman ML
Bone; 2016 Sep; 90():127-32. PubMed ID: 27297606
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]