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 *

296 related articles for article (PubMed ID: 33628804)

  • 1. A Novel Missense Variant in the Gene
    Yan L; Shen R; Cao Z; Han C; Zhang Y; Liu Y; Yang X; Xie M; Li H
    Biomed Res Int; 2021; 2021():6661860. PubMed ID: 33628804
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree.
    Liu R; Huang Y; Li C; Wang P; Wang Y; Zhang L
    Clin Neurol Neurosurg; 2022 Dec; 223():107524. PubMed ID: 36403339
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
    Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
    Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.
    Hetzelt KLML; Kerling F; Kraus C; Rauch C; Thiel CT; Winterholler M; Reis A; Zweier C
    Eur J Med Genet; 2021 Jan; 64(1):104123. PubMed ID: 33338668
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, neuroimaging and molecular characteristics of
    Oyama N; Vaneynde P; Reynhout S; Pao EM; Timms A; Fan X; Foss K; Derua R; Janssens V; Chung W; Mirzaa GM
    J Med Genet; 2023 May; 60(5):511-522. PubMed ID: 36216457
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.
    Biswas D; Cary W; Nolta JA
    Int J Mol Sci; 2020 Feb; 21(4):. PubMed ID: 32074998
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
    Yau WY; Vijayan S; Ravenscroft G
    Parkinsonism Relat Disord; 2024 Jul; 124():106976. PubMed ID: 38718479
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
    Papke CM; Smolen KA; Swingle MR; Cressey L; Heng RA; Toporsian M; Deng L; Hagen J; Shen Y; Chung WK; Kettenbach AN; Honkanen RE
    J Biol Chem; 2021; 296():100313. PubMed ID: 33482199
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
    Alhajaj G; Lacroix C; Trakadis Y; Garfinkle J; Srour M
    Am J Med Genet A; 2023 Sep; 191(9):2416-2421. PubMed ID: 37248744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.
    Madaan P; Kaur A; Saini L; Paria P; Vyas S; Sharma AR; Sahu JK
    Neuropediatrics; 2022 Feb; 53(1):20-25. PubMed ID: 34448180
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thirteen New Patients of
    Jiang Y; Wu B; Zhang X; Yang L; Wang S; Li H; Zhou S; Qian Y; Wang H
    Children (Basel); 2024 Jul; 11(8):. PubMed ID: 39201832
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
    Kanner CH; Uher D; Zreibe K; Beard G; Patterson M; Harris M; Doerger J; Calamia S; Chung WK; Montes J
    Orphanet J Rare Dis; 2024 Feb; 19(1):45. PubMed ID: 38326877
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
    Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
    Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
    Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
    Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
    Han L; Chen M; Wang Y; Wu H; Quan Y; Bai T; Li K; Duan G; Gao Y; Hu Z; Xia K; Guo H
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
    Kreienkamp HJ; Wagner M; Weigand H; McConkie-Rossell A; McDonald M; Keren B; Mignot C; Gauthier J; Soucy JF; Michaud JL; Dumas M; Smith R; Löbel U; Hempel M; Kubisch C; Denecke J; Campeau PM; Bain JM; Lessel D
    Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
    Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
    J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
    Yoon JG; Lim SK; Seo H; Lee S; Cho J; Kim SY; Koh HY; Poduri AH; Ramakumaran V; Vasudevan P; de Groot MJ; Ko JM; Han D; Chae JH; Lee CH
    Am J Hum Genet; 2024 Aug; 111(8):1588-1604. PubMed ID: 39047730
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 15.