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 *

135 related articles for article (PubMed ID: 33643843)

  • 1. Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
    Lipiński P; Bogdańska A; Tylki-Szymańska A
    Mol Genet Metab Rep; 2021 Jun; 27():100726. PubMed ID: 33643843
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
    Bogdańska A; Lipiński P; Szymańska-Rożek P; Jezela-Stanek A; Rokicki D; Socha P; Tylki-Szymańska A
    Orphanet J Rare Dis; 2021 Jan; 16(1):17. PubMed ID: 33407696
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
    Yıldız Y; Arslan M; Çelik G; Kasapkara ÇS; Ceylaner S; Dursun A; Sivri HS; Coşkun T; Tokatlı A
    Am J Med Genet A; 2020 Apr; 182(4):705-712. PubMed ID: 31981409
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
    González-Domínguez CA; Raya-Trigueros A; Manrique-Hernández S; González Jaimes A; Salinas-Marín R; Molina-Garay C; Carrillo-Sánchez K; Flores-Lagunes LL; Jiménez-Olivares M; Dehesa-Caballero C; Alaez-Versón C; Martínez-Duncker I
    Mol Genet Metab Rep; 2020 Dec; 25():100637. PubMed ID: 32874916
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
    Schiff M; Roda C; Monin ML; Arion A; Barth M; Bednarek N; Bidet M; Bloch C; Boddaert N; Borgel D; Brassier A; Brice A; Bruneel A; Buissonnière R; Chabrol B; Chevalier MC; Cormier-Daire V; De Barace C; De Maistre E; De Saint-Martin A; Dorison N; Drouin-Garraud V; Dupré T; Echenne B; Edery P; Feillet F; Fontan I; Francannet C; Labarthe F; Gitiaux C; Héron D; Hully M; Lamoureux S; Martin-Coignard D; Mignot C; Morin G; Pascreau T; Pincemaille O; Polak M; Roubertie A; Thauvin-Robinet C; Toutain A; Viot G; Vuillaumier-Barrot S; Seta N; De Lonlay P
    J Med Genet; 2017 Dec; 54(12):843-851. PubMed ID: 28954837
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel Splicing Variant in the
    Slaba K; Noskova H; Vesela P; Tuckova J; Jicinska H; Honzik T; Hansikova H; Kleiblova P; Stourac P; Jabandziev P; Slaby O; Prochazkova D
    Front Genet; 2020; 11():561054. PubMed ID: 33133147
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
    Medrano C; Vega A; Navarrete R; Ecay MJ; Calvo R; Pascual SI; Ruiz-Pons M; Toledo L; García-Jiménez I; Arroyo I; Campo A; Couce ML; Domingo-Jiménez MR; García-Silva MT; González-Gutiérrez-Solana L; Hierro L; Martín-Hernández E; Martínez-Pardo M; Roldán S; Tomás M; Cabrera JC; Mártinez-Bugallo F; Martín-Viota L; Vitoria-Miñana I; Lefeber DJ; Girós ML; Serrano Gimare M; Ugarte M; Pérez B; Pérez-Cerdá C
    Clin Genet; 2019 May; 95(5):615-626. PubMed ID: 30653653
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three families with mild PMM2-CDG and normal cognitive development.
    Vals MA; Morava E; Teeäär K; Zordania R; Pajusalu S; Lefeber DJ; Õunap K
    Am J Med Genet A; 2017 Jun; 173(6):1620-1624. PubMed ID: 28425223
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
    Vals MA; Pajusalu S; Kals M; Mägi R; Õunap K
    JIMD Rep; 2018; 39():13-17. PubMed ID: 28685491
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
    Pérez-Cerdá C; Girós ML; Serrano M; Ecay MJ; Gort L; Pérez Dueñas B; Medrano C; García-Alix A; Artuch R; Briones P; Pérez B
    J Pediatr; 2017 Apr; 183():170-177.e1. PubMed ID: 28139241
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
    Pajusalu S; Vals MA; Mihkla L; Šamarina U; Kahre T; Õunap K
    Front Genet; 2021; 12():719437. PubMed ID: 34447415
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Analysis of Variants in the General Population Reveals That
    Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
    Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Improvement of CDG diagnosis by combined examination of several glycoproteins.
    Fang J; Peters V; Assmann B; Körner C; Hoffmann GF
    J Inherit Metab Dis; 2004; 27(5):581-90. PubMed ID: 15669673
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
    Yoldas Celik M; Yazici H; Erdem F; Yuksel Yanbolu A; Aykut A; Durmaz A; Zeybek S; Canda E; Kalkan Ucar S; Coker M
    J Pediatr Endocrinol Metab; 2023 Jun; 36(6):530-538. PubMed ID: 37042760
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PMM2-CDG caused by uniparental disomy: Case report and literature review.
    Vaes L; Tiller GE; Pérez B; Boyer SW; Berry SA; Sarafoglou K; Morava E
    JIMD Rep; 2020 Jul; 54(1):16-21. PubMed ID: 32685345
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
    González-Domínguez CA; Villarroel CE; Rodríguez-Morales M; Manrique-Hernández S; González-Jaimes A; Olvera-Rodriguez F; Beutelspacher K; Molina-Garay C; Carrillo-Sánchez K; Flores-Lagunes LL; Jiménez-Olivares M; Muñoz-Rivas A; Cruz-Muñoz ME; Mora-Montes HM; Salinas-Marín R; Alaez-Verson C; Martínez-Duncker I
    Mol Genet Metab Rep; 2021 Sep; 28():100781. PubMed ID: 34277356
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
    Stefanits H; Konstantopoulou V; Kuess M; Milenkovic I; Matula C
    J Neurosurg Pediatr; 2014 Nov; 14(5):546-9. PubMed ID: 25192236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PMM2-CDG: phenotype and genotype in four affected family members.
    Bortot B; Cosentini D; Faletra F; Biffi S; De Martino E; Carrozzi M; Severini GM
    Gene; 2013 Dec; 531(2):506-9. PubMed ID: 23988505
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
    Francisco R; Pascoal C; Marques-da-Silva D; Brasil S; Pimentel-Santos FM; Altassan R; Jaeken J; Grosso AR; Dos Reis Ferreira V; Videira PA
    J Clin Med; 2020 Jul; 9(7):. PubMed ID: 32635232
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Renal involvement in PMM2-CDG, a mini-review.
    Altassan R; Witters P; Saifudeen Z; Quelhas D; Jaeken J; Levtchenko E; Cassiman D; Morava E
    Mol Genet Metab; 2018 Mar; 123(3):292-296. PubMed ID: 29229467
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.