BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 34594366)

  • 1. Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel
    Tao Y; Han D; Wei Y; Wang L; Song W; Li X
    Front Genet; 2021; 12():747422. PubMed ID: 34594366
    [No Abstract]   [Full Text] [Related]  

  • 2. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.
    He Y; Ji X; Yan H; Ye X; Liu Y; Wei W; Xiao B; Sun Y
    Gene; 2018 Jun; 660():13-17. PubMed ID: 29572195
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
    Obeid T; Hamzeh AR; Saif F; Nair P; Mohamed M; Al-Ali MT; Bastaki F
    Metab Brain Dis; 2018 Jun; 33(3):869-873. PubMed ID: 29430593
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.
    Mishra S; Girisha KM; Shukla A
    Clin Dysmorphol; 2021 Jan; 30(1):1-5. PubMed ID: 33229923
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygosity for a Novel
    Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
    Zhang P; Wu B; Lu Y; Ni Q; Liu R; Zhou W; Wang H
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1144. PubMed ID: 31985178
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.
    Kelesoglu FM; Kaya M; Sayili ET
    Am J Med Genet A; 2023 Jul; 191(7):1959-1962. PubMed ID: 37067163
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
    Liu J; Chen B; Liu Y; Kong J; Zhang B; Han L; Mei D; Ma CY; Shang Q; Xie Z; Xiao M; Mei S; Zhang Y; Gao C; Li D
    Eur J Med Genet; 2022 Sep; 65(9):104554. PubMed ID: 35793769
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.
    Zhang S; Qin H; Wang J; OuYang L; Luo S; Fu C; Fan X; Su J; Chen R; Xie B; Hu X; Chen S; Shen Y
    Mol Cytogenet; 2016; 9(1):66. PubMed ID: 27559361
    [TBL] [Abstract][Full Text] [Related]  

  • 10. When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
    Hureaux M; Chantot-Bastaraud S; Cassinari K; Martinez Casado E; Cuny A; Frébourg T; Vargas-Poussou R; Bréhin AC
    Mol Cytogenet; 2021 May; 14(1):23. PubMed ID: 33952337
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
    King JE; Dexter A; Gadi I; Zvereff V; Martin M; Bloom M; Vanderver A; Pizzino A; Schmidt JL
    J Genet Couns; 2014 Oct; 23(5):734-41. PubMed ID: 24777551
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
    Bramswig NC; Bertoli-Avella AM; Albrecht B; Al Aqeel AI; Alhashem A; Al-Sannaa N; Bah M; Bröhl K; Depienne C; Dorison N; Doummar D; Ehmke N; Elbendary HM; Gorokhova S; Héron D; Horn D; James K; Keren B; Kuechler A; Ismail S; Issa MY; Marey I; Mayer M; McEvoy-Venneri J; Megarbane A; Mignot C; Mohamed S; Nava C; Philip N; Ravix C; Rolfs A; Sadek AA; Segebrecht L; Stanley V; Trautman C; Valence S; Villard L; Wieland T; Engels H; Strom TM; Zaki MS; Gleeson JG; Lüdecke HJ; Bauer P; Wieczorek D
    Hum Genet; 2018 Sep; 137(9):753-768. PubMed ID: 30167850
    [TBL] [Abstract][Full Text] [Related]  

  • 13. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
    Perez Y; Kadir R; Volodarsky M; Noyman I; Flusser H; Shorer Z; Gradstein L; Birnbaum RY; Birk OS
    J Med Genet; 2016 Jun; 53(6):397-402. PubMed ID: 26545877
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
    Li N; Ding YU; Yu T; Li J; Shen Y; Wang X; Fu Q; Shen Y; Huang X; Wang J
    Exp Ther Med; 2016 Jun; 11(6):2247-2253. PubMed ID: 27284308
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case Report: A Case of Epileptic Disorder Associated With a Novel
    Chen W; Chen F; Shen Y; Yang Z; Qin J
    Front Genet; 2021; 12():743833. PubMed ID: 34691156
    [No Abstract]   [Full Text] [Related]  

  • 16. Case Report: A Novel Homozygous Mutation in
    Li Q; Zhu X; Yu C; Shang L; Li R; Wang X; Yang Y; Meng J; Kong X
    Front Genet; 2021; 12():780363. PubMed ID: 35186005
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
    Kuptanon C; Srichomthong C; Ittiwut C; Wechapinan T; Sri-Udomkajorn S; Iamopas O; Phokaew C; Suphapeetiporn K; Shotelersuk V
    Gene; 2019 May; 696():21-27. PubMed ID: 30771478
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H
    Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.
    Yu T; Li J; Li N; Liu R; Ding Y; Chang G; Chen Y; Shen Y; Wang X; Wang J
    Int J Obes (Lond); 2016 Dec; 40(12):1935-1941. PubMed ID: 27654142
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
    Tamura M; Isojima T; Kawashima M; Yoshida H; Yamamoto K; Kitaoka T; Namba N; Oka A; Ozono K; Tokunaga K; Kitanaka S
    PLoS One; 2015; 10(7):e0131157. PubMed ID: 26153892
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.