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 *

335 related articles for article (PubMed ID: 32681751)

  • 21. 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]  

  • 22. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
    Wang Y; Tan J; Sutton-Smith M; Ditto D; Panico M; Campbell RM; Varki NM; Long JM; Jaeken J; Levinson SR; Wynshaw-Boris A; Morris HR; Le D; Dell A; Schachter H; Marth JD
    Glycobiology; 2001 Dec; 11(12):1051-70. PubMed ID: 11805078
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Congenital disorders of glycosylation.
    Jaeken J
    Handb Clin Neurol; 2013; 113():1737-43. PubMed ID: 23622397
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
    Gao XD; Tachikawa H; Sato T; Jigami Y; Dean N
    J Biol Chem; 2005 Oct; 280(43):36254-62. PubMed ID: 16100110
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
    Iqbal Z; Shahzad M; Vissers LE; van Scherpenzeel M; Gilissen C; Razzaq A; Zahoor MY; Khan SN; Kleefstra T; Veltman JA; de Brouwer AP; Lefeber DJ; van Bokhoven H; Riazuddin S
    Eur J Hum Genet; 2013 Aug; 21(8):844-9. PubMed ID: 23249953
    [TBL] [Abstract][Full Text] [Related]  

  • 27. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
    Ng BG; Shiryaev SA; Rymen D; Eklund EA; Raymond K; Kircher M; Abdenur JE; Alehan F; Midro AT; Bamshad MJ; Barone R; Berry GT; Brumbaugh JE; Buckingham KJ; Clarkson K; Cole FS; O'Connor S; Cooper GM; Van Coster R; Demmer LA; Diogo L; Fay AJ; Ficicioglu C; Fiumara A; Gahl WA; Ganetzky R; Goel H; Harshman LA; He M; Jaeken J; James PM; Katz D; Keldermans L; Kibaek M; Kornberg AJ; Lachlan K; Lam C; Yaplito-Lee J; Nickerson DA; Peters HL; Race V; Régal L; Rush JS; Rutledge SL; Shendure J; Souche E; Sparks SE; Trapane P; Sanchez-Valle A; Vilain E; Vøllo A; Waechter CJ; Wang RY; Wolfe LA; Wong DA; Wood T; Yang AC; ; Matthijs G; Freeze HH
    Hum Mutat; 2016 Jul; 37(7):653-60. PubMed ID: 26931382
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
    Berry GT; Freeze HH; Morava E
    Epilepsia; 2021 Feb; 62(2):335-336. PubMed ID: 33576051
    [No Abstract]   [Full Text] [Related]  

  • 29. 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]  

  • 30. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
    Jones MA; Rhodenizer D; da Silva C; Huff IJ; Keong L; Bean LJ; Coffee B; Collins C; Tanner AK; He M; Hegde MR
    Mol Genet Metab; 2013; 110(1-2):78-85. PubMed ID: 23806237
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
    Westenfield K; Sarafoglou K; Speltz LC; Pierpont EI; Steyermark J; Nascene D; Bower M; Pierpont ME
    BMC Med Genet; 2018 Jun; 19(1):100. PubMed ID: 29907092
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
    Ng BG; Raymond K; Kircher M; Buckingham KJ; Wood T; Shendure J; Nickerson DA; Bamshad MJ; ; Wong JT; Monteiro FP; Graham BH; Jackson S; Sparkes R; Scheuerle AE; Cathey S; Kok F; Gibson JB; Freeze HH
    Hum Mutat; 2015 Nov; 36(11):1048-51. PubMed ID: 26264460
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
    Madaan P; Negi S; Sharma R; Kaur A; Sahu JK
    Indian J Pediatr; 2019 Nov; 86(11):1072-1073. PubMed ID: 31444733
    [No Abstract]   [Full Text] [Related]  

  • 36. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ].
    Lang CH; Yang Y; Niu XY; Yang XL; Chen Y; Zhang YH
    Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):586-590. PubMed ID: 32605344
    [No Abstract]   [Full Text] [Related]  

  • 37. Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
    Bastaki F; Bizzari S; Hamici S; Nair P; Mohamed M; Saif F; Malik EM; Al-Ali MT; Hamzeh AR
    Ann Hum Genet; 2018 Jan; 82(1):35-47. PubMed ID: 28940310
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
    Raynor A; Vincent-Delorme C; Alaix AS; Cholet S; Dupré T; Vuillaumier-Barrot S; Fenaille F; Besmond C; Bruneel A
    Clin Chim Acta; 2021 Aug; 519():285-290. PubMed ID: 34022244
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
    Lam C; Scaglia F; Berry GT; Larson A; Sarafoglou K; Andersson HC; Sklirou E; Tan QKG; Starosta RT; Sadek M; Wolfe L; Horikoshi S; Ali M; Barone R; Campbell T; Chang IJ; Coles K; Cook E; Eklund EA; Engelhardt NM; Freeman M; Friedman J; Fu DYT; Botzo G; Rawls B; Hernandez C; Johnsen C; Keller K; Kramer S; Kuschel B; Leshinski A; Martinez-Duncker I; Mazza GL; Mercimek-Andrews S; Miller BS; Muthusamy K; Neira J; Patterson MC; Pogorelc N; Powers LN; Ramey E; Reinhart M; Squire A; Thies J; Vockley J; Vreugdenhil H; Witters P; Youbi M; Zeighami A; Zemet R; Edmondson AC; Morava E
    Mol Genet Metab; 2024 Aug; 142(4):108509. PubMed ID: 38959600
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 17.