BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 31481313)

  • 1. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
    Tahata S; Gunderson L; Lanpher B; Morava E
    Mol Genet Metab; 2019 Dec; 128(4):409-414. PubMed ID: 31481313
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
    Hiraide T; Wada Y; Matsubayashi T; Kadoya M; Masunaga Y; Ohkubo Y; Nakashima M; Okamoto N; Ogata T; Saitsu H
    Brain Dev; 2021 Oct; 43(9):945-951. PubMed ID: 34092405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
    Sturiale L; Bianca S; Garozzo D; Terracciano A; Agolini E; Messina A; Palmigiano A; Esposito F; Barone C; Novelli A; Fiumara A; Jaeken J; Barone R
    Glycoconj J; 2019 Dec; 36(6):461-472. PubMed ID: 31529350
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
    de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
    Ziburová J; Nemčovič M; Šesták S; Bellová J; Pakanová Z; Siváková B; Šalingová A; Šebová C; Ostrožlíková M; Lekka DE; Brucknerová J; Brucknerová I; Skokňová M; Mc Cullough A; Hrčková G; Hlavatá A; Bzdúch V; Mucha J; Baráth P
    Am J Med Genet A; 2021 Nov; 185(11):3494-3501. PubMed ID: 34467644
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel Homozygous
    Nicotera AG; Spoto G; Calì F; Romeo G; Musumeci A; Vinci M; Fiumara A; Barone R; Di Rosa G; Musumeci SA
    Mol Syndromol; 2021 Aug; 12(5):327-332. PubMed ID: 34602961
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
    Grubenmann CE; Frank CG; Kjaergaard S; Berger EG; Aebi M; Hennet T
    Hum Mol Genet; 2002 Sep; 11(19):2331-9. PubMed ID: 12217961
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ALG11-CDG syndrome: Expanding the phenotype.
    Haanpää MK; Ng BG; Gallant NM; Singh KE; Brown C; Kimonis V; Freeze HH; Muller EA
    Am J Med Genet A; 2019 Mar; 179(3):498-502. PubMed ID: 30676690
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
    Dupré T; Vuillaumier-Barrot S; Chantret I; Sadou Yayé H; Le Bizec C; Afenjar A; Altuzarra C; Barnérias C; Burglen L; de Lonlay P; Feillet F; Napuri S; Seta N; Moore SE
    J Med Genet; 2010 Nov; 47(11):729-35. PubMed ID: 20679665
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
    Yang AC; Ng BG; Moore SA; Rush J; Waechter CJ; Raymond KM; Willer T; Campbell KP; Freeze HH; Mehta L
    Mol Genet Metab; 2013 Nov; 110(3):345-351. PubMed ID: 23856421
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ALG1-CDG: a new case with early fatal outcome.
    Rohlfing AK; Rust S; Reunert J; Tirre M; Du Chesne I; Wemhoff S; Meinhardt F; Hartmann H; Das AM; Marquardt T
    Gene; 2014 Jan; 534(2):345-51. PubMed ID: 24157261
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
    Murali C; Lu JT; Jain M; Liu DS; Lachman R; Gibbs RA; Lee BH; Cohn D; Campeau PM
    Mol Genet Metab Rep; 2014; 1():213-219. PubMed ID: 25019053
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
    van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
    J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
    Abu Bakar N; Ashikov A; Brum JM; Smeets R; Kersten M; Huijben K; Keng WT; Speck-Martins CE; de Carvalho DR; de Rizzo IMPO; de Mello WD; Heiner-Fokkema R; Gorman K; Grunewald S; Michelakakis H; Moraitou M; Martinelli D; van Scherpenzeel M; Janssen M; de Boer L; van den Heuvel LP; Thiel C; Lefeber DJ
    J Inherit Metab Dis; 2022 Jul; 45(4):769-781. PubMed ID: 35279850
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.
    Shanmugasundaram M; Wang A; Morand M; Bixler C; Jain S; Ray J
    Am J Med Genet A; 2024 May; ():e63660. PubMed ID: 38717015
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
    Radenkovic S; Fitzpatrick-Schmidt T; Byeon SK; Madugundu AK; Saraswat M; Lichty A; Wong SYW; McGee S; Kubiak K; Ligezka A; Ranatunga W; Zhang Y; Wood T; Friez MJ; Clarkson K; Pandey A; Jones JR; Morava E
    Mol Genet Metab; 2021 Jan; 132(1):27-37. PubMed ID: 33129689
    [TBL] [Abstract][Full Text] [Related]  

  • 17. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
    Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
    Chantret I; Dupré T; Delenda C; Bucher S; Dancourt J; Barnier A; Charollais A; Heron D; Bader-Meunier B; Danos O; Seta N; Durand G; Oriol R; Codogno P; Moore SE
    J Biol Chem; 2002 Jul; 277(28):25815-22. PubMed ID: 11983712
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
    Rimella-Le-Huu A; Henry H; Kern I; Hanquinet S; Roulet-Perez E; Newman CJ; Superti-Furga A; Bonafé L; Ballhausen D
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S381-6. PubMed ID: 18679822
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
    Morava E; Vodopiutz J; Lefeber DJ; Janecke AR; Schmidt WM; Lechner S; Item CB; Sykut-Cegielska J; Adamowicz M; Wierzba J; Zhang ZH; Mihalek I; Stockler S; Bodamer OA; Lehle L; Wevers RA
    Pediatrics; 2012 Oct; 130(4):e1034-9. PubMed ID: 22966035
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.