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 *

160 related articles for article (PubMed ID: 36843332)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 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. SLC35A2-CDG: novel variants with two ends of the spectrum.
    Kasapkara ÇS; Ceylan AC; Özyürek H; Karakaya Molla G; Civelek Ürey B; Kıreker Köylü O; Küçükçongar Yavaş A; Sönmez FM
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1185-1189. PubMed ID: 34161696
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
    Teutonico F; Volpe C; Proto A; Costi I; Cavallari U; Doneda P; Iascone M; Sturiale L; Barone R; Martinelli S; Vignoli A
    Neurogenetics; 2024 Jul; 25(3):281-286. PubMed ID: 38498292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
    Papazoglu GM; Cubilla M; Pereyra M; de Kremer RD; Pérez B; Sturiale L; Asteggiano CG
    Glycoconj J; 2021 Apr; 38(2):191-200. PubMed ID: 33644825
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
    Yang A; Cho SY; Jang JH; Kim J; Kim SZ; Lee BH; Yoo HW; Jin DK
    Clin Chim Acta; 2017 Aug; 471():191-195. PubMed ID: 28619360
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
    Silver G; Bahl S; Cordeiro D; Thakral A; Athey T; Mercimek-Andrews S
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440401
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.