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 *

148 related articles for article (PubMed ID: 32529806)

  • 1. Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.
    Chen P; Chen J; Yang Z; Lu Y; Shen L; Zhou K; Ye S; Shen B
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1350. PubMed ID: 32529806
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
    Liu Y; Song L; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Song Y; Xing X; Asan ; Li M
    Clin Chim Acta; 2016 Oct; 461():172-80. PubMed ID: 27450065
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
    Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
    J Biomed Sci; 2018 Nov; 25(1):82. PubMed ID: 30447692
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
    Nampoothiri S; Guillemyn B; Elcioglu N; Jagadeesh S; Yesodharan D; Suresh B; Turan S; Symoens S; Malfait F
    Am J Med Genet A; 2019 Jun; 179(6):908-914. PubMed ID: 30896082
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient.
    Won JY; Jang WY; Lee HR; Park SY; Kim WY; Park JH; Kim Y; Cho TJ
    Eur J Med Genet; 2017 Aug; 60(8):411-415. PubMed ID: 28528193
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The role of WNT1 mutant variant (WNT1
    Zhang B; Li R; Wang W; Zhou X; Luo B; Zhu Z; Zhang X; Ding A
    Ann Hum Genet; 2020 Nov; 84(6):447-455. PubMed ID: 32757296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
    Kuptanon C; Srichomthong C; Sangsin A; Kovitvanitcha D; Suphapeetiporn K; Shotelersuk V
    BMC Med Genet; 2018 Jul; 19(1):117. PubMed ID: 30012084
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.
    Palomo T; Al-Jallad H; Moffatt P; Glorieux FH; Lentle B; Roschger P; Klaushofer K; Rauch F
    Bone; 2014 Oct; 67():63-70. PubMed ID: 25010833
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
    Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
    Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in WNT1 cause different forms of bone fragility.
    Keupp K; Beleggia F; Kayserili H; Barnes AM; Steiner M; Semler O; Fischer B; Yigit G; Janda CY; Becker J; Breer S; Altunoglu U; Grünhagen J; Krawitz P; Hecht J; Schinke T; Makareeva E; Lausch E; Cankaya T; Caparrós-Martín JA; Lapunzina P; Temtamy S; Aglan M; Zabel B; Eysel P; Koerber F; Leikin S; Garcia KC; Netzer C; Schönau E; Ruiz-Perez VL; Mundlos S; Amling M; Kornak U; Marini J; Wollnik B
    Am J Hum Genet; 2013 Apr; 92(4):565-74. PubMed ID: 23499309
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
    Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
    Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
    Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
    Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
    Joeng KS; Lee YC; Jiang MM; Bertin TK; Chen Y; Abraham AM; Ding H; Bi X; Ambrose CG; Lee BH
    Hum Mol Genet; 2014 Aug; 23(15):4035-42. PubMed ID: 24634143
    [TBL] [Abstract][Full Text] [Related]  

  • 15. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
    Pyott SM; Tran TT; Leistritz DF; Pepin MG; Mendelsohn NJ; Temme RT; Fernandez BA; Elsayed SM; Elsobky E; Verma I; Nair S; Turner EH; Smith JD; Jarvik GP; Byers PH
    Am J Hum Genet; 2013 Apr; 92(4):590-7. PubMed ID: 23499310
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutation in a family with WNT1-related osteoporosis.
    Panigrahi I; Didel S; Kirpal H; Bellampalli R; Miyanath S; Mullapudi N; Rao S
    Eur J Med Genet; 2018 Jul; 61(7):369-371. PubMed ID: 29481978
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
    Tan Z; Chen P; Zhang J; Shek HT; Li Z; Zhou X; Zhou Y; Yin S; Dong L; Feng L; Wong JSH; Gao B; To MKT
    J Bone Miner Res; 2024 Sep; 39(9):1253-1267. PubMed ID: 39126373
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
    Wang JY; Liu Y; Song LJ; Lv F; Xu XJ; San A; Wang J; Yang HM; Yang ZY; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
    Lu Y; Ren X; Wang Y; Bardai G; Sturm M; Dai Y; Riess O; Zhang Y; Li H; Li T; Zhai N; Zhang J; Rauch F; Han J
    Bone; 2018 Sep; 114():144-149. PubMed ID: 29935254
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.