BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 24566669)

  • 1. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
    Van Scherpenzeel M; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
    Brain; 2014 Apr; 137(Pt 4):1030-8. PubMed ID: 24566669
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MAN1B1 deficiency: an unexpected CDG-II.
    Rymen D; Peanne R; Millón MB; Race V; Sturiale L; Garozzo D; Mills P; Clayton P; Asteggiano CG; Quelhas D; Cansu A; Martins E; Nassogne MC; Gonçalves-Rocha M; Topaloglu H; Jaeken J; Foulquier F; Matthijs G
    PLoS Genet; 2013; 9(12):e1003989. PubMed ID: 24348268
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
    Okamoto N; Ohto T; Enokizono T; Wada Y; Kohmoto T; Imoto I; Haga Y; Seino J; Suzuki T
    Cells; 2021 Nov; 10(11):. PubMed ID: 34831340
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MAN1B1-CDG: novel patients and novel variant.
    Kasapkara CS; Olgac A; Kilic M; Keldermans L; Matthijs G; Jaeken J
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1207-1209. PubMed ID: 34162022
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MAN1B1-CDG: Three new individuals and associated biochemical profiles.
    Sakhi S; Cholet S; Wehbi S; Isidor B; Cogne B; Vuillaumier-Barrot S; Dupré T; Detleft T; Schmitt E; Leheup B; Bonnet C; Feillet F; Muti C; Fenaille F; Bruneel A
    Mol Genet Metab Rep; 2021 Sep; 28():100775. PubMed ID: 34141584
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
    van Scherpenzeel M; Steenbergen G; Morava E; Wevers RA; Lefeber DJ
    Transl Res; 2015 Dec; 166(6):639-649.e1. PubMed ID: 26307094
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
    Rafiq MA; Kuss AW; Puettmann L; Noor A; Ramiah A; Ali G; Hu H; Kerio NA; Xiang Y; Garshasbi M; Khan MA; Ishak GE; Weksberg R; Ullmann R; Tzschach A; Kahrizi K; Mahmood K; Naeem F; Ayub M; Moremen KW; Vincent JB; Ropers HH; Ansar M; Najmabadi H
    Am J Hum Genet; 2011 Jul; 89(1):176-82. PubMed ID: 21763484
    [TBL] [Abstract][Full Text] [Related]  

  • 8. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
    Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
    J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
    Duvet S; Mouajjah D; Péanne R; Matthijs G; Raymond K; Jaeken J; Morava E; Foulquier F
    Electrophoresis; 2018 Dec; 39(24):3133-3141. PubMed ID: 29947113
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
    Balasubramanian M; Johnson DS;
    Eur J Med Genet; 2019 Feb; 62(2):109-114. PubMed ID: 29908352
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
    Radenkovic S; Martinelli D; Zhang Y; Preston GJ; Maiorana A; Terracciano A; Dentici ML; Pisaneschi E; Novelli A; Ranatunga W; Ligezka AN; Ghesquière B; Deyle DR; Kozicz T; Pinto E Vairo F; Witters P; Morava E
    Genet Med; 2022 Apr; 24(4):894-904. PubMed ID: 35042660
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case Report: Compound Heterozygous Variants of the
    Zhalsanova IZ; Ravzhaeva EG; Postrigan AE; Seitova GN; Zhigalina DI; Udalova VY; Danina MM; Kanivets IV; Skryabin NA
    Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
    Gupta S; Fahiminiya S; Wang T; Dempsey Nunez L; Rosenblatt DS; Gibson WT; Gilfix B; Bergeron JJ; Jerome-Majewska LA
    Cold Spring Harb Mol Case Stud; 2016 May; 2(3):a000737. PubMed ID: 27148587
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
    Polla DL; Edmondson AC; Duvet S; March ME; Sousa AB; Lehman A; ; Niyazov D; van Dijk F; Demirdas S; van Slegtenhorst MA; Kievit AJA; Schulz C; Armstrong L; Bi X; Rader DJ; Izumi K; Zackai EH; de Franco E; Jorge P; Huffels SC; Hommersom M; Ellard S; Lefeber DJ; Santani A; Hand NJ; van Bokhoven H; He M; de Brouwer APM
    Am J Hum Genet; 2021 Jul; 108(7):1342-1349. PubMed ID: 34143952
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
    Jansen JC; Timal S; van Scherpenzeel M; Michelakakis H; Vicogne D; Ashikov A; Moraitou M; Hoischen A; Huijben K; Steenbergen G; van den Boogert MA; Porta F; Calvo PL; Mavrikou M; Cenacchi G; van den Bogaart G; Salomon J; Holleboom AG; Rodenburg RJ; Drenth JP; Huynen MA; Wevers RA; Morava E; Foulquier F; Veltman JA; Lefeber DJ
    Am J Hum Genet; 2016 Feb; 98(2):322-30. PubMed ID: 26833330
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
    Hoffjan S; Epplen JT; Reis A; Abou Jamra R
    Mol Syndromol; 2015 Jul; 6(2):58-62. PubMed ID: 26279649
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.
    Barbosa EA; Fontes NDC; Santos SCL; Lefeber DJ; Bloch C; Brum JM; Brand GD
    Clin Chim Acta; 2019 May; 492():102-113. PubMed ID: 30776362
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
    Knapp KM; Luu R; Baerenfaenger M; Zijlstra F; Wessels HJCT; Jenkins D; Lefeber DJ; Neas K; Bicknell LS
    J Hum Genet; 2020 Sep; 65(9):743-750. PubMed ID: 32313197
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
    Ashikov A; Abu Bakar N; Wen XY; Niemeijer M; Rodrigues Pinto Osorio G; Brand-Arzamendi K; Hasadsri L; Hansikova H; Raymond K; Vicogne D; Ondruskova N; Simon MEH; Pfundt R; Timal S; Beumers R; Biot C; Smeets R; Kersten M; Huijben K; ; Linders PTA; van den Bogaart G; van Hijum SAFT; Rodenburg R; van den Heuvel LP; van Spronsen F; Honzik T; Foulquier F; van Scherpenzeel M; Lefeber DJ; ; Mirjam W; Han B; Helen M; Helen M; Peter VH; Jiddeke VK; Diego M; Lars M; Katja BH; Jozef H; Majid A; Kevin C; Johann TWN
    Hum Mol Genet; 2018 Sep; 27(17):3029-3045. PubMed ID: 29878199
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
    Redin C; Gérard B; Lauer J; Herenger Y; Muller J; Quartier A; Masurel-Paulet A; Willems M; Lesca G; El-Chehadeh S; Le Gras S; Vicaire S; Philipps M; Dumas M; Geoffroy V; Feger C; Haumesser N; Alembik Y; Barth M; Bonneau D; Colin E; Dollfus H; Doray B; Delrue MA; Drouin-Garraud V; Flori E; Fradin M; Francannet C; Goldenberg A; Lumbroso S; Mathieu-Dramard M; Martin-Coignard D; Lacombe D; Morin G; Polge A; Sukno S; Thauvin-Robinet C; Thevenon J; Doco-Fenzy M; Genevieve D; Sarda P; Edery P; Isidor B; Jost B; Olivier-Faivre L; Mandel JL; Piton A
    J Med Genet; 2014 Nov; 51(11):724-36. PubMed ID: 25167861
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.