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 *

449 related articles for article (PubMed ID: 30676690)

  • 1. 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]  

  • 2. Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.
    Zhao P; Zhang X; Duan Z; Wan C; Zhang L; Luo S; Zhu H; He X
    Seizure; 2024 Oct; 121():235-242. PubMed ID: 39260222
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
    Arai Y; Okanishi T; Kanai S; Okazaki T; Koshimizu E; Miyatake S; Maeoka Y; Fujimoto A; Matsumoto N; Maegaki Y
    Brain Dev; 2022 Nov; 44(10):732-736. PubMed ID: 35907674
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ALG11-CDG: novel variant and review of the literature.
    Erdal AE; Ceylan AC; Gücüyener K; Öktem RM; Kıreker Köylü O; Kasapkara ÇS
    J Pediatr Endocrinol Metab; 2023 Apr; 36(4):409-413. PubMed ID: 36843332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
    Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S
    Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
    Thiel C; Rind N; Popovici D; Hoffmann GF; Hanson K; Conway RL; Adamski CR; Butler E; Scanlon R; Lambert M; Apeshiotis N; Thiels C; Matthijs G; Körner C
    Hum Mutat; 2012 Mar; 33(3):485-7. PubMed ID: 22213132
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
    de la Morena-Barrio ME; Wypasek E; Owczarek D; Miñano A; Vicente V; Corral J; Undas A
    Haematologica; 2019 Feb; 104(2):e79-e82. PubMed ID: 30545931
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
    Mulkey SB; Ng BG; Vezina GL; Bulas DI; Wolfe LA; Freeze HH; Ferreira CR
    Pediatr Neurol; 2019 May; 94():64-69. PubMed ID: 30770273
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Congenital disorders of glycosylation: The Saudi experience.
    Alsubhi S; Alhashem A; Faqeih E; Alfadhel M; Alfaifi A; Altuwaijri W; Alsahli S; Aldhalaan H; Alkuraya FS; Hundallah K; Mahmoud A; Alasmari A; Mutairi FA; Abduraouf H; AlRasheed L; Alshahwan S; Tabarki B
    Am J Med Genet A; 2017 Oct; 173(10):2614-2621. PubMed ID: 28742265
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.