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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

288 related items for PubMed ID: 32083401

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
    Schwenty-Lara J, Nehl D, Borchers A.
    Hum Mol Genet; 2020 Jan 15; 29(2):305-319. PubMed ID: 31813957
    [Abstract] [Full Text] [Related]

  • 5. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.
    Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V.
    Int J Biol Sci; 2018 Jan 15; 14(4):381-389. PubMed ID: 29725259
    [Abstract] [Full Text] [Related]

  • 6. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
    Hum Mol Genet; 2014 Aug 15; 23(16):4396-405. PubMed ID: 24705355
    [Abstract] [Full Text] [Related]

  • 7. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
    Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K.
    Am J Med Genet A; 2020 Oct 15; 182(10):2333-2344. PubMed ID: 32803813
    [Abstract] [Full Text] [Related]

  • 8. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
    Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC.
    Gene; 2020 Mar 20; 731():144360. PubMed ID: 31935506
    [Abstract] [Full Text] [Related]

  • 9. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT.
    Mol Genet Genomic Med; 2020 Feb 20; 8(2):e1072. PubMed ID: 31814321
    [Abstract] [Full Text] [Related]

  • 10. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
    Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O.
    Am J Med Genet A; 2020 Apr 20; 182(4):640-651. PubMed ID: 31883305
    [Abstract] [Full Text] [Related]

  • 11. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
    Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
    Hum Mutat; 2016 Sep 20; 37(9):847-64. PubMed ID: 27302555
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
    Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R.
    Orphanet J Rare Dis; 2019 Nov 14; 14(1):255. PubMed ID: 31727177
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
    Badalato L, Farhan SM, Dilliott AA, Care4Rare Canada Consortium, Bulman DE, Hegele RA, Goobie SL.
    Am J Med Genet A; 2017 Jan 14; 173(1):183-189. PubMed ID: 27991736
    [Abstract] [Full Text] [Related]

  • 16. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
    Arsov T, Sestan M, Cekada N, Frkovic M, Andrews D, He Y, Shen N, Vinuesa CG, Jelusic M.
    Eur J Med Genet; 2019 Jun 14; 62(6):103538. PubMed ID: 30213761
    [Abstract] [Full Text] [Related]

  • 17. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
    So PL, Luk HM, Yu KPT, Cheng SSW, Hau EWL, Ho SKL, Lam STS, Lo IFM.
    Am J Med Genet A; 2021 Mar 14; 185(3):675-686. PubMed ID: 33314698
    [Abstract] [Full Text] [Related]

  • 18. Kabuki Syndrome-Clinical Review with Molecular Aspects.
    Boniel S, Szymańska K, Śmigiel R, Szczałuba K.
    Genes (Basel); 2021 Mar 25; 12(4):. PubMed ID: 33805950
    [Abstract] [Full Text] [Related]

  • 19. A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
    Faundes V, Malone G, Newman WG, Banka S.
    J Hum Genet; 2019 Feb 25; 64(2):161-170. PubMed ID: 30459467
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 15.