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 *

173 related articles for article (PubMed ID: 33403770)

  • 1. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
    Ben Ayed I; Ouarda W; Frikha F; Kammoun F; Souissi A; Ben Said M; Bouzid A; Elloumi I; Hamdani TM; Gharbi N; Baklouti N; Guirat M; Mejdoub F; Kharrat N; Boujelbene I; Abdelhedi F; Belguith N; Keskes L; Gibriel AA; Kamoun H; Triki C; Alimi AM; Masmoudi S
    Am J Med Genet A; 2021 Apr; 185(4):1081-1090. PubMed ID: 33403770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC;
    JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SRD5A3-CDG: Twins with an intragenic tandem duplication.
    Rieger M; Türk M; Kraus C; Uebe S; Ekici AB; Krumbiegel M; Huchzermeyer C; Reis A; Thiel C
    Eur J Med Genet; 2022 May; 65(5):104492. PubMed ID: 35339718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adult phenotype and further phenotypic variability in SRD5A3-CDG.
    Kara B; Ayhan Ö; Gökçay G; Başboğaoğlu N; Tolun A
    BMC Med Genet; 2014 Jan; 15():10. PubMed ID: 24433453
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
    Wheeler PG; Ng BG; Sanford L; Sutton VR; Bartholomew DW; Pastore MT; Bamshad MJ; Kircher M; Buckingham KJ; Nickerson DA; Shendure J; Freeze HH
    Am J Med Genet A; 2016 Dec; 170(12):3165-3171. PubMed ID: 27480077
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SRD5A3-CDG: a patient with a novel mutation.
    Kasapkara CS; Tümer L; Ezgü FS; Hasanoğlu A; Race V; Matthijs G; Jaeken J
    Eur J Paediatr Neurol; 2012 Sep; 16(5):554-6. PubMed ID: 22240719
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
    Kasapkara CS; Olgac A; Derinkuyu BE; Oztoprak U; Jaeken J
    J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS221-SS226. PubMed ID: 36597345
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
    Kousal B; Honzík T; Hansíková H; Ondrušková N; Čechová A; Tesařová M; Stránecký V; Meliška M; Michaelides M; Lišková P
    Folia Biol (Praha); 2019; 65(3):134-141. PubMed ID: 31638560
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
    Khan AO
    Ophthalmic Genet; 2018 Oct; 39(5):628-630. PubMed ID: 30019980
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
    Yoldas Celik M; Yazici H; Erdem F; Yuksel Yanbolu A; Aykut A; Durmaz A; Zeybek S; Canda E; Kalkan Ucar S; Coker M
    J Pediatr Endocrinol Metab; 2023 Jun; 36(6):530-538. PubMed ID: 37042760
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
    Lugli L; Bariola MC; Ferri L; Lucaccioni L; Bertucci E; Cattini U; Torcetta F; Morrone A; Iughetti L; Berardi A
    Am J Med Genet A; 2021 Apr; 185(4):1187-1194. PubMed ID: 33394555
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Life with too much polyprenol: polyprenol reductase deficiency.
    Gründahl JE; Guan Z; Rust S; Reunert J; Müller B; Du Chesne I; Zerres K; Rudnik-Schöneborn S; Ortiz-Brüchle N; Häusler MG; Siedlecka J; Swiezewska E; Raetz CR; Marquardt T
    Mol Genet Metab; 2012 Apr; 105(4):642-51. PubMed ID: 22304929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
    Kamarus Jaman N; Rehsi P; Henderson RH; Löbel U; Mankad K; Grunewald S
    Front Genet; 2021; 12():737094. PubMed ID: 34925443
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
    Wilson MP; Kentache T; Althoff CR; Schulz C; de Bettignies G; Mateu Cabrera G; Cimbalistiene L; Burnyte B; Yoon G; Costain G; Vuillaumier-Barrot S; Cheillan D; Rymen D; Rychtarova L; Hansikova H; Bury M; Dewulf JP; Caligiore F; Jaeken J; Cantagrel V; Van Schaftingen E; Matthijs G; Foulquier F; Bommer GT
    Cell; 2024 Jul; 187(14):3585-3601.e22. PubMed ID: 38821050
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
    Kahrizi K; Hu CH; Garshasbi M; Abedini SS; Ghadami S; Kariminejad R; Ullmann R; Chen W; Ropers HH; Kuss AW; Najmabadi H; Tzschach A
    Eur J Hum Genet; 2011 Jan; 19(1):115-7. PubMed ID: 20700148
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    Cantagrel V; Lefeber DJ; Ng BG; Guan Z; Silhavy JL; Bielas SL; Lehle L; Hombauer H; Adamowicz M; Swiezewska E; De Brouwer AP; Blümel P; Sykut-Cegielska J; Houliston S; Swistun D; Ali BR; Dobyns WB; Babovic-Vuksanovic D; van Bokhoven H; Wevers RA; Raetz CR; Freeze HH; Morava E; Al-Gazali L; Gleeson JG
    Cell; 2010 Jul; 142(2):203-17. PubMed ID: 20637498
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
    Bryant EM; Millichap JJ; Spinelli E; Calhoun JD; Miller C; Giannelli J; Wolak J; Sanders V; Carvill GL; Charrow J
    Am J Med Genet A; 2020 Jun; 182(6):1460-1465. PubMed ID: 32267060
    [TBL] [Abstract][Full Text] [Related]  

  • 20. From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
    Martinez-Monseny A; Cuadras D; Bolasell M; Muchart J; Arjona C; Borregan M; Algrabli A; Montero R; Artuch R; Velázquez-Fragua R; Macaya A; Pérez-Cerdá C; Pérez-Dueñas B; Pérez B; Serrano M;
    J Med Genet; 2019 Apr; 56(4):236-245. PubMed ID: 30464053
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.