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 *

124 related articles for article (PubMed ID: 36082569)

  • 1. [Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F].
    Gao M; Hou L; Zhang K; Lyu Y; Ma J; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):979-982. PubMed ID: 36082569
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
    Pál E; Zima J; Hadzsiev K; Ito YA; Hartley T; ; Boycott KM; Melegh B
    Eur J Med Genet; 2019 Jul; 62(7):103662. PubMed ID: 31071488
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
    Melià MJ; Kubota A; Ortolano S; Vílchez JJ; Gámez J; Tanji K; Bonilla E; Palenzuela L; Fernández-Cadenas I; Pristoupilová A; García-Arumí E; Andreu AL; Navarro C; Hirano M; Martí R
    Brain; 2013 May; 136(Pt 5):1508-17. PubMed ID: 23543484
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound heterozygous
    Zhang C; Zheng X; Lu D; Xu L; Che F; Liu S
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33899113
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
    Rodríguez-Mora S; De Wit F; García-Perez J; Bermejo M; López-Huertas MR; Mateos E; Martí P; Rocha S; Vigón L; Christ F; Debyser Z; Vílchez JJ; Coiras M; Alcamí J
    PLoS Pathog; 2019 Aug; 15(8):e1007958. PubMed ID: 31465518
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis.
    Costa R; Rodia MT; Vianello S; Santi S; Lattanzi G; Angelini C; Pegoraro E; Cenacchi G
    Neuromuscul Disord; 2020 Aug; 30(8):685-692. PubMed ID: 32690349
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
    Torella A; Fanin M; Mutarelli M; Peterle E; Del Vecchio Blanco F; Rispoli R; Savarese M; Garofalo A; Piluso G; Morandi L; Ricci G; Siciliano G; Angelini C; Nigro V
    PLoS One; 2013; 8(5):e63536. PubMed ID: 23667635
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].
    Wang G; Xu L; Zhao D; Yan C; Lin P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1205-1210. PubMed ID: 36317204
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
    Liu Z; Liao H; Zhang X; Zhang H; Liu H; Wang H; Liu S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):498-501. PubMed ID: 30098242
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].
    Zhang Y; Xia Y; Wu Q; Ren Y; Kong X; Sheng G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):722-726. PubMed ID: 35810429
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.
    Peddareddygari LR; Oberoi K; Baisre-De Leon A; Grewal RP
    J Clin Neuromuscul Dis; 2018 Jun; 19(4):228-231. PubMed ID: 29794579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection].
    Allamand V
    Med Sci (Paris); 2019 Nov; 35 Hors série n° 2():45-46. PubMed ID: 31859632
    [No Abstract]   [Full Text] [Related]  

  • 13. Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.
    Gibertini S; Ruggieri A; Saredi S; Salerno F; Blasevich F; Napoli L; Moggio M; Nigro V; Morandi L; Maggi L; Mora M
    Acta Neuropathol Commun; 2018 Dec; 6(1):141. PubMed ID: 30567601
    [No Abstract]   [Full Text] [Related]  

  • 14. [Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
    Ding L; Tang S; Li H; Xu X; Luan Z; Zhang Q; Lyu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):136-139. PubMed ID: 30703231
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.
    Angelini C
    Acta Myol; 2004 Dec; 23(3):130-6. PubMed ID: 15938568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical phenotype and genetic analysis of a Chinese patient featuring X-linked Claes-Jensen type syndromic mental retardation].
    Gao M; Xing M; Zhang K; Lyu Y; Ma J; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):736-738. PubMed ID: 32619253
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
    Özyilmaz B; Kirbiyik Ö; Özdemir TR; Kaya Özer Ö; Kutbay YB; Erdogan KM; Güvenç MS; Kale MY; Gazeteci H; Kiliç B; Sertpoyraz F; Diniz G; Baydan F; Gençpinar P; Dündar NO; Yiş U
    Ann Hum Genet; 2019 Sep; 83(5):331-347. PubMed ID: 31066050
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
    Blázquez-Bernal Á; Fernandez-Costa JM; Bargiela A; Artero R
    FASEB J; 2021 Oct; 35(10):e21914. PubMed ID: 34547132
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
    Fu X; Liu A; Yang H; Wei C; Ding J; Wang S; Wang J; Yuan Y; Jiang Y; Xiong H
    Zhonghua Er Ke Za Zhi; 2015 Oct; 53(10):741-6. PubMed ID: 26758109
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome].
    Wei H; Liu P; Peng X; Li Y; Che F; Tang L; Liu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):545-548. PubMed ID: 34096022
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.