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 *

131 related articles for article (PubMed ID: 30581635)

  • 1. Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
    Bouhouche A; Tibar H; Kriouale Y; Jiddane M; Smaili I; Bouslam N; Benomar A; Yahyaoui M; El Fahime E
    Case Rep Genet; 2018; 2018():8635698. PubMed ID: 30581635
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
    Karimzadeh P; Naderi S; Modarresi F; Dastsooz H; Nemati H; Farokhashtiani T; Shamsian BS; Inaloo S; Faghihi MA
    BMC Med Genet; 2017 Jul; 18(1):73. PubMed ID: 28716012
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].
    Cheng S; Wang Q; Chen A; Zhou L; Hong X; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):537-541. PubMed ID: 35598274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
    Lee JS; Choi JM; Lee M; Kim SY; Lee S; Lim BC; Cheon JE; Kim IO; Kim KJ; Choi M; Seong MW; Chae JH
    Brain Dev; 2018 May; 40(5):383-390. PubMed ID: 29439846
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
    Pierson TM; Adams DA; Markello T; Golas G; Yang S; Sincan M; Simeonov DR; Fuentes Fajardo K; Hansen NF; Cherukuri PF; Cruz P; Teer JK; Mullikin JC; ; Boerkoel CF; Gahl WA; Tifft CJ
    Neurology; 2012 Jul; 79(2):123-6. PubMed ID: 22675082
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
    Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.
    Zagaynova VA; Nasykhova YA; Tonyan ZN; Danilova MM; Dvoynova NM; Lazareva TE; Ivashchenko TE; Shabanova ES; Krikheli IO; Lesik EA; Bespalova ON; Kogan IY; Glotov AS
    Front Genet; 2024; 15():1344051. PubMed ID: 38404665
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
    Ferreira CR; Regier DS; Yoon R; Pan KS; Johnston JM; Yang S; Spranger JW; Tifft CJ
    Bone; 2020 Feb; 131():115142. PubMed ID: 31704340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel
    Zubaida B; Almas Hashmi M; Arshad Cheema H; Naeem M
    J Genet; 2018 Dec; 97(5):1445-1449. PubMed ID: 30555092
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
    Caciotti A; Bardelli T; Cunningham J; D'Azzo A; Zammarchi E; Morrone A
    Hum Genet; 2003 Jul; 113(1):44-50. PubMed ID: 12644936
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GM1 Gangliosidosis-A Mini-Review.
    Nicoli ER; Annunziata I; d'Azzo A; Platt FM; Tifft CJ; Stepien KM
    Front Genet; 2021; 12():734878. PubMed ID: 34539759
    [TBL] [Abstract][Full Text] [Related]  

  • 12. GM1 gangliosidosis: patients with different phenotypic features and novel mutations.
    Emecen Sanli M; Dogan M
    J Pediatr Endocrinol Metab; 2023 Jun; 36(6):602-607. PubMed ID: 37042746
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
    Myers KA; Bennett MF; Chow CW; Carden SM; Mandelstam SA; Bahlo M; Scheffer IE
    Am J Med Genet A; 2018 Jan; 176(1):230-234. PubMed ID: 29160035
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
    Priyanka K; Madhana Priya N; Magesh R
    Metab Brain Dis; 2021 Mar; 36(3):499-508. PubMed ID: 33394287
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An autopsy case of G
    Uchino A; Nagai M; Kanazawa N; Ichinoe M; Yanagisawa N; Adachi K; Nanba E; Ishiura H; Mitsui J; Tsuji S; Suzuki K; Murayama S; Nishiyama K
    Neuropathology; 2020 Aug; 40(4):379-388. PubMed ID: 32219895
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Human
    Latour YL; Yoon R; Thomas SE; Grant C; Li C; Sena-Esteves M; Allende ML; Proia RL; Tifft CJ
    Mol Genet Metab Rep; 2019 Dec; 21():100513. PubMed ID: 31534909
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
    Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
    Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
    Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
    Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
    Georgiou T; Stylianidou G; Anastasiadou V; Caciotti A; Campos Y; Zammarchi E; Morrone A; D'azzo A; Drousiotou A
    Genet Test; 2005; 9(2):126-32. PubMed ID: 15943552
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
    Arash-Kaps L; Komlosi K; Seegräber M; Diederich S; Paschke E; Amraoui Y; Beblo S; Dieckmann A; Smitka M; Hennermann JB
    J Pediatr; 2019 Dec; 215():152-157.e3. PubMed ID: 31761138
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.