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 *

182 related articles for article (PubMed ID: 37647829)

  • 1. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
    Altassan R; Allers MM; De Graef D; Shah R; de Vries M; Larson A; Glamuzina E; Morava E
    Mol Genet Metab; 2023 Nov; 140(3):107688. PubMed ID: 37647829
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
    Howard MF; Murakami Y; Pagnamenta AT; Daumer-Haas C; Fischer B; Hecht J; Keays DA; Knight SJ; Kölsch U; Krüger U; Leiz S; Maeda Y; Mitchell D; Mundlos S; Phillips JA; Robinson PN; Kini U; Taylor JC; Horn D; Kinoshita T; Krawitz PM
    Am J Hum Genet; 2014 Feb; 94(2):278-87. PubMed ID: 24439110
    [TBL] [Abstract][Full Text] [Related]  

  • 3. PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
    Abdel-Hamid MS; Issa MY; Otaify GA; Abdel-Ghafar SF; Elbendary HM; Zaki MS
    Clin Genet; 2018 Jan; 93(1):84-91. PubMed ID: 28390064
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.
    Abi Farraj L; Khatoun WD; Abou Chebel N; Wakim V; Dawali K; Ghassibe-Sabbagh M
    Diagn Pathol; 2019 Nov; 14(1):123. PubMed ID: 31684969
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Da'as SI; Aamer W; Hasan W; Al-Maraghi A; Al-Kurbi A; Kilani H; AlRayahi J; Zamel K; Stotland MA; Fakhro KA
    Cells; 2020 Jul; 9(8):. PubMed ID: 32726939
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.
    Bezuidenhout H; Bayley S; Smit L; Kinnear C; Möller M; Uren C; Urban MF
    Am J Med Genet A; 2020 Oct; 182(10):2230-2235. PubMed ID: 32845056
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
    Johnsen C; Tabatadze N; Radenkovic S; Botzo G; Kuschel B; Melikishvili G; Morava E
    Mol Genet Metab; 2024 Jul; 142(3):108477. PubMed ID: 38805916
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
    Knaus A; Awaya T; Helbig I; Afawi Z; Pendziwiat M; Abu-Rachma J; Thompson MD; Cole DE; Skinner S; Annese F; Canham N; Schweiger MR; Robinson PN; Mundlos S; Kinoshita T; Munnich A; Murakami Y; Horn D; Krawitz PM
    Hum Mutat; 2016 Aug; 37(8):737-44. PubMed ID: 27120253
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Central nervous involvement is common in PGM1-CDG.
    Radenkovic S; Witters P; Morava E
    Mol Genet Metab; 2018 Nov; 125(3):200-204. PubMed ID: 30262252
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.
    Akgün Doğan Ö; Demir GÜ; Kosukcu C; Taskiran EZ; Simsek-Kiper PÖ; Utine GE; Alikaşifoğlu M; Boduroğlu K
    Eur J Med Genet; 2019 Jun; 62(6):103535. PubMed ID: 30217754
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital disorders of glycosylation and infantile epilepsy.
    Lee HF; Chi CS
    Epilepsy Behav; 2023 May; 142():109214. PubMed ID: 37086590
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.
    Thompson MD; Knaus A
    Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790248
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
    Wolthuis DF; Janssen MC; Cassiman D; Lefeber DJ; Morava E
    Expert Rev Mol Diagn; 2014 Mar; 14(2):217-24. PubMed ID: 24524732
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
    Yates TM; Suri M; Desurkar A; Lesca G; Wallgren-Pettersson C; Hammer TB; Raghavan A; Poulat AL; Møller RS; Thuresson AC; Balasubramanian M
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1095-1102. PubMed ID: 30194038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
    Albokhari D; Ng BG; Guberinic A; Daniel EJP; Engelhardt NM; Barone R; Fiumara A; Garavelli L; Trimarchi G; Wolfe L; Raymond KM; Morava E; He M; Freeze HH; Lam C; Edmondson AC
    J Inherit Metab Dis; 2022 Sep; 45(5):969-980. PubMed ID: 35716054
    [TBL] [Abstract][Full Text] [Related]  

  • 19. What is new in CDG?
    Jaeken J; Péanne R
    J Inherit Metab Dis; 2017 Jul; 40(4):569-586. PubMed ID: 28484880
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
    Pagnamenta AT; Murakami Y; Taylor JM; Anzilotti C; Howard MF; Miller V; Johnson DS; Tadros S; Mansour S; Temple IK; Firth R; Rosser E; Harrison RE; Kerr B; Popitsch N; ; Kinoshita T; Taylor JC; Kini U
    Eur J Hum Genet; 2017 Jun; 25(6):669-679. PubMed ID: 28327575
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.