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 *

150 related articles for article (PubMed ID: 33552639)

  • 1. Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome.
    Bruni V; Scozzafava C; Gnazzo M; Parisi F; Sestito S; Pensabene L; Novelli A; Concolino D
    J Pediatr Genet; 2021 Mar; 10(1):49-52. PubMed ID: 33552639
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel Intronic
    Aristizábal E; Diaz-Ordóñez L; Candelo E; Pachajoa H
    Appl Clin Genet; 2021; 14():409-416. PubMed ID: 34675602
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in
    Sakata S; Okada S; Aoyama K; Hara K; Tani C; Kagawa R; Utsunomiya-Nakamura A; Miyagawa S; Ogata T; Mizuno H; Kobayashi M
    Front Genet; 2017; 8():210. PubMed ID: 29321794
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Kabuki Syndrome: Identification of Two Novel Variants in
    Khodaeian M; Jafarinia E; Bitarafan F; Shafeii S; Almadani N; Daneshmand MA; Garshasbi M
    Mol Syndromol; 2021 Apr; 12(2):118-126. PubMed ID: 34012382
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic and Phenotypic Spectrum of
    Lee CL; Chuang CK; Chen MR; Lin JL; Chiu HC; Chang YH; Tu YR; Lo YT; Lin HY; Lin SP
    Diagnostics (Basel); 2024 Aug; 14(16):. PubMed ID: 39202303
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 731():144360. PubMed ID: 31935506
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and
    Yi S; Zhang X; Yang Q; Huang J; Zhou X; Qian J; Pan P; Yi S; Zhang S; Zhang Q; Tang X; Huang L; Zhang Q; Qin Z; Luo J
    Heliyon; 2023 Oct; 9(10):e20223. PubMed ID: 37810849
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
    Lu J; Mo G; Ling Y; Ji L
    Mol Med Rep; 2016 Oct; 14(4):3641-5. PubMed ID: 27573763
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.
    Muroi A; Enokizono T; Tsurubuchi T; Tsukada K; Ohto T; Ishikawa E
    Childs Nerv Syst; 2021 Apr; 37(4):1339-1343. PubMed ID: 32691197
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case report: A study on the
    Li S; Liu J; Yuan Y; Lu A; Liu F; Sun L; Shen Q; Wang L
    Front Pediatr; 2022; 10():933693. PubMed ID: 36090579
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Kabuki syndrome: clinical and molecular characteristics.
    Cheon CK; Ko JM
    Korean J Pediatr; 2015 Sep; 58(9):317-24. PubMed ID: 26512256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
    Sakaria RP; Zaveri PG; Holtrop S; Zhang J; Brown CW; Pivnick EK
    Front Genet; 2021; 12():766316. PubMed ID: 34899850
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
    Lintas C; Persico AM
    Clin Genet; 2018 Oct; 94(3-4):283-295. PubMed ID: 28139835
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
    Aukema SM; Glaser S; van den Hout MFCM; Dahlum S; Blok MJ; Hillmer M; Kolarova J; Sciot R; Schott DA; Siebert R; Stumpel CTRM
    Fam Cancer; 2023 Jan; 22(1):103-118. PubMed ID: 35856126
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Anatomical and functional abnormalities on MRI in kabuki syndrome.
    Boisgontier J; Tacchella JM; Lemaître H; Lehman N; Saitovitch A; Gatinois V; Boursier G; Sanchez E; Rechtman E; Fillon L; Lyonnet S; Le Quang Sang KH; Baujat G; Rio M; Boute O; Faivre L; Schaefer E; Sanlaville D; Zilbovicius M; Grévent D; Geneviève D; Boddaert N
    Neuroimage Clin; 2019; 21():101610. PubMed ID: 30497982
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
    Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH
    Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 37(9):847-64. PubMed ID: 27302555
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
    Geneviève D; Amiel J; Viot G; Le Merrer M; Sanlaville D; Urtizberea A; Gérard M; Munnich A; Cormier-Daire V; Lyonnet S
    Am J Med Genet A; 2004 Aug; 129A(1):64-8. PubMed ID: 15266618
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [One novel pathologic variation in
    Qiu SW; Yuan YY
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):820-824. PubMed ID: 31446696
    [No Abstract]   [Full Text] [Related]  

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

    [Next]    [New Search]
    of 8.