These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 29801479)

  • 1. Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
    Maghami F; Tabei SMB; Moravej H; Dastsooz H; Modarresi F; Silawi M; Faghihi MA
    BMC Med Genet; 2018 May; 19(1):86. PubMed ID: 29801479
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Xu Y; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Int J Mol Med; 2018 Jun; 41(6):3662-3670. PubMed ID: 29512769
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
    Xu XJ; Lv F; Liu Y; Wang JY; Ma DD; Asan ; Wang JW; Song LJ; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    J Hum Genet; 2017 Feb; 62(2):205-211. PubMed ID: 27762305
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
    Tan Z; Shek HT; Chen P; Dong Z; Zhou Y; Yin S; Qiu A; Dong L; Gao B; To MKT
    Mol Genet Genomic Med; 2023 Apr; 11(4):e2122. PubMed ID: 36655627
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.
    Seyedhassani SM; Hashemi-Gorji F; Yavari M; Harazi F; Yassaee VR
    Fetal Pediatr Pathol; 2016; 35(5):353-358. PubMed ID: 27362741
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Presentation of Rare Phenotypes Associated with the
    Merkuryeva ES; Markova TV; Kenis VM; Agranovich OE; Dan IM; Kotalevskaya YY; Shchagina OA; Ryzhkova OP; Fomenko SS; Dadali EL; Kutsev SI
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927610
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.
    Venturi G; Monti E; Dalle Carbonare L; Corradi M; Gandini A; Valenti MT; Boner A; Antoniazzi F
    Bone; 2012 Jan; 50(1):343-9. PubMed ID: 22061863
    [TBL] [Abstract][Full Text] [Related]  

  • 9. New insights on the clinical variability of FKBP10 mutations.
    Essawi OH; Tapaneeyaphan P; Symoens S; Gistelinck C C; Malfait F; Eyre DR; Essawi T; Callewaert B; Coucke PJ
    Eur J Med Genet; 2020 Sep; 63(9):103980. PubMed ID: 32531462
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
    Yüksel Ülker A; Uludağ Alkaya D; Elkanova L; Şeker A; Akpınar E; Akarsu NA; Uyguner ZO; Tüysüz B
    Calcif Tissue Int; 2021 Dec; 109(6):633-644. PubMed ID: 34173012
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
    Barnes AM; Cabral WA; Weis M; Makareeva E; Mertz EL; Leikin S; Eyre D; Trujillo C; Marini JC
    Hum Mutat; 2012 Nov; 33(11):1589-98. PubMed ID: 22718341
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
    Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
    Bone; 2018 May; 110():368-377. PubMed ID: 29499418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
    Umair M; Alhaddad B; Rafique A; Jan A; Haack TB; Graf E; Ullah A; Ahmad F; Strom TM; Meitinger T; Ahmad W
    Pediatr Res; 2017 Nov; 82(5):753-758. PubMed ID: 28665926
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
    Umair M; Hassan A; Jan A; Ahmad F; Imran M; Samman MI; Basit S; Ahmad W
    J Hum Genet; 2016 Mar; 61(3):207-13. PubMed ID: 26538303
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
    Steinlein OK; Aichinger E; Trucks H; Sander T
    BMC Med Genet; 2011 Nov; 12():152. PubMed ID: 22107750
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
    Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
    Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Osteoporos Int; 2017 Apr; 28(4):1473-1480. PubMed ID: 27942778
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
    Alanay Y; Avaygan H; Camacho N; Utine GE; Boduroglu K; Aktas D; Alikasifoglu M; Tuncbilek E; Orhan D; Bakar FT; Zabel B; Superti-Furga A; Bruckner-Tuderman L; Curry CJ; Pyott S; Byers PH; Eyre DR; Baldridge D; Lee B; Merrill AE; Davis EC; Cohn DH; Akarsu N; Krakow D
    Am J Hum Genet; 2010 Apr; 86(4):551-9. PubMed ID: 20362275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.