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 *

381 related articles for article (PubMed ID: 34902613)

  • 1. 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]  

  • 2. Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.
    Evin F; Atik T; Onay H; Goksen D; Darcan S; Cogulu O; Ozen S
    J Pediatr Endocrinol Metab; 2024 Aug; 37(8):693-700. PubMed ID: 38953412
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
    Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
    Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
    Holtz AP; Souza LT; Ribeiro EM; Acosta AX; Lago RMRS; Simoni G; Llerena JC; Félix TM
    Bone; 2023 Apr; 169():116683. PubMed ID: 36709916
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
    Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
    J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive
    Zhytnik L; Duy BH; Eekhoff M; Wisse L; Pals G; Reimann E; Kõks S; Märtson A; Maugeri A; Maasalu K; Micha D
    Genes (Basel); 2022 Feb; 13(3):. PubMed ID: 35327962
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
    Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
    Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
    Bardai G; Moffatt P; Glorieux FH; Rauch F
    Osteoporos Int; 2016 Dec; 27(12):3607-3613. PubMed ID: 27509835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
    Higuchi Y; Hasegawa K; Futagawa N; Yamashita M; Tanaka H; Tsukahara H
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1675. PubMed ID: 33939306
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.
    Aliyeva L; Ongen YD; Eren E; Sarisozen MB; Alemdar A; Temel SG; Sag SO
    J Mol Diagn; 2024 Sep; 26(9):754-769. PubMed ID: 39025364
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. What is new in genetics and osteogenesis imperfecta classification?
    Valadares ER; Carneiro TB; Santos PM; Oliveira AC; Zabel B
    J Pediatr (Rio J); 2014; 90(6):536-41. PubMed ID: 25046257
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
    Madhuri V; Selina A; Loganathan L; Kumar A; Kumar V; Raymond R; Ramesh S; Vincy N; Joel G; James D; Kandagaddala M; B A
    Ann Hum Genet; 2021 Jan; 85(1):37-46. PubMed ID: 32770541
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.