BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 36595228)

  • 1. Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
    Hu J; Lin X; Gao P; Zhang Q; Zhou B; Wang O; Jiang Y; Xia W; Xing X; Li M
    J Clin Endocrinol Metab; 2023 Jun; 108(7):1776-1786. PubMed ID: 36595228
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
    Peris P; Monegal A; Mäkitie RE; Guañabens N; González-Roca E
    Osteoporos Int; 2023 Feb; 34(2):405-411. PubMed ID: 36396825
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.
    Lin X; Hu J; Zhou B; Zhang Q; Jiang Y; Wang O; Xia W; Xing X; Li M
    J Endocrinol Invest; 2024 Jan; 47(1):67-77. PubMed ID: 37270749
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
    Cao YJ; Zhang H; Zhang ZL
    Endocr Pract; 2019 Mar; 25(3):230-241. PubMed ID: 30913006
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
    Zhou B; Gao P; Hu J; Lin X; Sun L; Zhang Q; Jiang Y; Wang O; Xia W; Xing X; Li M
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1803-1813. PubMed ID: 38214665
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
    Liu Y; Asan ; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Xing X; Yu W; Wang J; Sun J; Song L; Zhu Y; Yang H; Wang J; Li M
    Osteoporos Int; 2017 Oct; 28(10):2985-2995. PubMed ID: 28725987
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.
    Joeng KS; Lee YC; Lim J; Chen Y; Jiang MM; Munivez E; Ambrose C; Lee BH
    J Clin Invest; 2017 Jun; 127(7):2678-2688. PubMed ID: 28628032
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
    Li S; Cao Y; Wang H; Li L; Ren X; Mi H; Wang Y; Guan Y; Zhao F; Mao B; Yang T; You Y; Guan X; Yang Y; Zhang X; Zhao X
    Front Genet; 2020; 11():984. PubMed ID: 33093841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.
    Rolvien T; Stürznickel J; Schmidt FN; Butscheidt S; Schmidt T; Busse B; Mundlos S; Schinke T; Kornak U; Amling M; Oheim R
    Calcif Tissue Int; 2018 Nov; 103(5):512-521. PubMed ID: 29946973
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Relationship of Pathogenic Mutations and Responses to Zoledronic Acid in a Cohort of Osteogenesis Imperfecta Children.
    Sun L; Hu J; Liu J; Zhang Q; Wang O; Jiang Y; Xia W; Xing X; Li M
    J Clin Endocrinol Metab; 2022 Aug; 107(9):2571-2579. PubMed ID: 35727737
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.