BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

489 related articles for article (PubMed ID: 28778787)

  • 1. Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
    Hamici S; Bastaki F; Khalifa M
    Eur J Med Genet; 2017 Oct; 60(10):541-547. PubMed ID: 28778787
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
    Ng BG; Eklund EA; Shiryaev SA; Dong YY; Abbott MA; Asteggiano C; Bamshad MJ; Barr E; Bernstein JA; Chelakkadan S; Christodoulou J; Chung WK; Ciliberto MA; Cousin J; Gardiner F; Ghosh S; Graf WD; Grunewald S; Hammond K; Hauser NS; Hoganson GE; Houck KM; Kohler JN; Morava E; Larson AA; Liu P; Madathil S; McCormack C; Meeks NJL; Miller R; Monaghan KG; Nickerson DA; Palculict TB; Papazoglu GM; Pletcher BA; Scheffer IE; Schenone AB; Schnur RE; Si Y; Rowe LJ; Serrano Russi AH; Russo RS; Thabet F; Tuite A; Villanueva MM; Wang RY; Webster RI; Wilson D; Zalan A; ; Wolfe LA; Rosenfeld JA; Rhodes L; Freeze HH
    J Inherit Metab Dis; 2020 Nov; 43(6):1333-1348. PubMed ID: 32681751
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
    Alsharhan H; He M; Edmondson AC; Daniel EJP; Chen J; Donald T; Bakhtiari S; Amor DJ; Jones EA; Vassallo G; Vincent M; Cogné B; Deb W; Werners AH; Jin SC; Bilguvar K; Christodoulou J; Webster RI; Yearwood KR; Ng BG; Freeze HH; Kruer MC; Li D; Raymond KM; Bhoj EJ; Sobering AK
    J Inherit Metab Dis; 2021 Jul; 44(4):1001-1012. PubMed ID: 33734437
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    Datta AN; Bahi-Buisson N; Bienvenu T; Buerki SE; Gardiner F; Cross JH; Heron B; Kaminska A; Korff CM; Lepine A; Lesca G; McTague A; Mefford HC; Mignot C; Milh M; Piton A; Pressler RM; Ruf S; Sadleir LG; de Saint Martin A; Van Gassen K; Verbeek NE; Ville D; Villeneuve N; Zacher P; Scheffer IE; Lemke JR
    Epilepsia; 2021 Feb; 62(2):325-334. PubMed ID: 33410528
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.
    Galama WH; Verhaagen-van den Akker SLJ; Lefeber DJ; Feenstra I; Verrips A
    JIMD Rep; 2018; 40():11-16. PubMed ID: 28887793
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
    Mitusińska K; Góra A; Bogdańska A; Rożdżyńska-Świątkowska A; Tylki-Szymańska A; Jezela-Stanek A
    Biomolecules; 2022 Mar; 12(3):. PubMed ID: 35327592
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
    Anzai R; Tsuji M; Yamashita S; Wada Y; Okamoto N; Saitsu H; Matsumoto N; Goto T
    Brain Dev; 2021 Mar; 43(3):402-410. PubMed ID: 33261925
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient].
    Ramírez-Montaño D; Candelo E; Pachajoa H
    Andes Pediatr; 2021 Oct; 92(5):769-776. PubMed ID: 35319586
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
    Shah R; Eklund EA; Radenkovic S; Sadek M; Shammas I; Verberkmoes S; Ng BG; Freeze HH; Edmondson AC; He M; Kozicz T; Altassan R; Morava E
    Mol Genet Metab; 2024 Jun; 142(2):108472. PubMed ID: 38703411
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
    Gadomski TE; Bolton M; Alfadhel M; Dvorak C; Ogunsakin OA; Nelson SL; Morava E
    Am J Med Genet A; 2017 Oct; 173(10):2772-2775. PubMed ID: 28777499
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Could distal variants in ALG13 lead to atypical clinical presentation?
    Accogli A; Radenkovic S; Ranatunga W; Ligezka AN; Rivière JB; Morava E; Trakadis Y
    Eur J Med Genet; 2022 Apr; 65(4):104473. PubMed ID: 35240324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
    Smith-Packard B; Myers SM; Williams MS
    JIMD Rep; 2015; 22():95-8. PubMed ID: 25732998
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
    Kimizu T; Takahashi Y; Oboshi T; Horino A; Koike T; Yoshitomi S; Mori T; Yamaguchi T; Ikeda H; Okamoto N; Nakashima M; Saitsu H; Kato M; Matsumoto N; Imai K
    Brain Dev; 2017 Mar; 39(3):256-260. PubMed ID: 27743886
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
    Vals MA; Ashikov A; Ilves P; Loorits D; Zeng Q; Barone R; Huijben K; Sykut-Cegielska J; Diogo L; Elias AF; Greenwood RS; Grunewald S; van Hasselt PM; van de Kamp JM; Mancini G; Okninska A; Pajusalu S; Rudd PM; Rustad CF; Salvarinova R; de Vries BBA; Wolf NI; ; Ng BG; Freeze HH; Lefeber DJ; Õunap K
    J Inherit Metab Dis; 2019 May; 42(3):553-564. PubMed ID: 30746764
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
    Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
    Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
    Bissar-Tadmouri N; Donahue WL; Al-Gazali L; Nelson SF; Bayrak-Toydemir P; Kantarci S
    Am J Med Genet A; 2014 Jan; 164A(1):164-9. PubMed ID: 24501762
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.
    Chand P; Sulaiman A; Angez M; Kirmani S
    J Pak Med Assoc; 2023 Jul; 73(7):1521-1523. PubMed ID: 37469072
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
    Helander A; Stödberg T; Jaeken J; Matthijs G; Eriksson M; Eggertsen G
    Mol Genet Metab; 2013 Nov; 110(3):342-4. PubMed ID: 23890587
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.