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

146 related items for PubMed ID: 33811134

  • 1. Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
    Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Cogné B, Doummar D, Karsenty C, Kenis S, Leguern E, Lesca G, Nava C, Nizon M, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C.
    J Med Genet; 2022 May; 59(5):505-510. PubMed ID: 33811134
    [Abstract] [Full Text] [Related]

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

  • 3. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
    Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
    BMC Med Genet; 2016 Jun 10; 17(1):42. PubMed ID: 27282200
    [Abstract] [Full Text] [Related]

  • 4. Epilepsy in KCNH1-related syndromes.
    Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V.
    Epileptic Disord; 2016 Jun 01; 18(2):123-36. PubMed ID: 27267311
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
    Chen D, Su J, Huang X, Chen H, Jiang T, Zhi C, Zhou Z, Zhang B, Yu L, Jiang X.
    Hum Cell; 2024 May 01; 37(3):832-839. PubMed ID: 38372889
    [Abstract] [Full Text] [Related]

  • 7. Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
    Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V.
    Mol Neurobiol; 2022 Aug 01; 59(8):4825-4838. PubMed ID: 35639255
    [Abstract] [Full Text] [Related]

  • 8. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
    Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K.
    Eur J Med Genet; 2020 Sep 01; 63(9):103996. PubMed ID: 32622958
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ.
    Nat Genet; 2015 Jan 01; 47(1):73-7. PubMed ID: 25420144
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

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

  • 13. Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.
    Tian MQ, Li RK, Yang F, Shu XM, Li J, Chen J, Peng LY, Yu XH, Yang CJ.
    CNS Neurosci Ther; 2023 Jan 01; 29(1):270-281. PubMed ID: 36285361
    [Abstract] [Full Text] [Related]

  • 14. Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.
    Wang H, Zhang X, Ding H.
    Clin Dysmorphol; 2021 Jan 01; 30(1):27-31. PubMed ID: 32956079
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
    Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N.
    J Hum Genet; 2016 May 01; 61(5):381-7. PubMed ID: 26818738
    [Abstract] [Full Text] [Related]

  • 19. Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
    Gao X, Dai P, Yuan YY.
    Hum Genet; 2022 Apr 01; 141(3-4):821-838. PubMed ID: 34232384
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 8.