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

372 related items for PubMed ID: 26293599

  • 1. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.
    BMC Med Genet; 2015 Aug 22; 16():68. PubMed ID: 26293599
    [Abstract] [Full Text] [Related]

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

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

  • 4. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
    Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E.
    J Med Genet; 2015 Dec 22; 52(12):804-14. PubMed ID: 26424144
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
    Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.
    Nat Genet; 2012 Apr 29; 44(6):639-41. PubMed ID: 22544363
    [Abstract] [Full Text] [Related]

  • 6. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
    Keen C, Samango-Sprouse C, Dubbs H, Zackai EH.
    Am J Med Genet A; 2017 Mar 29; 173(3):762-765. PubMed ID: 28211987
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
    Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M.
    J Med Genet; 2022 Feb 29; 59(2):189-195. PubMed ID: 33361104
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 13. Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
    Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P.
    Am J Med Genet A; 2021 Mar 29; 185(3):978-981. PubMed ID: 33314579
    [Abstract] [Full Text] [Related]

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

  • 15. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
    Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA.
    Eur J Hum Genet; 2021 Sep 29; 29(9):1418-1423. PubMed ID: 33603161
    [Abstract] [Full Text] [Related]

  • 16. Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
    Farnè M, Bernardini L, Capalbo A, Cavarretta G, Torres B, Sanchini M, Fini S, Ferlini A, Bigoni S.
    Am J Med Genet A; 2022 Feb 29; 188(2):692-707. PubMed ID: 34665525
    [Abstract] [Full Text] [Related]

  • 17. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
    Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.
    Epilepsia; 2017 Jun 29; 58(6):1085-1094. PubMed ID: 28440867
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
    Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.
    Cytogenet Genome Res; 2014 Jun 29; 144(3):178-82. PubMed ID: 25402493
    [Abstract] [Full Text] [Related]

  • 20. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.
    Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D.
    Am J Med Genet A; 2013 Jan 29; 161A(1):21-6. PubMed ID: 23169757
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 19.