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Journal Abstract Search

133 related items for PubMed ID: 24357613

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  • 4. 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
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  • 6. 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
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  • 8. 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
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  • 9. Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.
    Shen JJ.
    Clin Dysmorphol; 2015 Apr 01; 24(2):55-60. PubMed ID: 25629734
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  • 10. Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
    Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M.
    Clin Epigenetics; 2020 Oct 22; 12(1):159. PubMed ID: 33092629
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  • 11. "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
    Hamilton MJ, Suri M.
    Adv Genet; 2020 Oct 22; 105():137-174. PubMed ID: 32560786
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  • 12. New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
    Severi G, Bernardini L, Briuglia S, Bigoni S, Buldrini B, Magini P, Dentici ML, Cordelli DM, Arrigo T, Franzoni E, Fini S, Italyankina E, Loddo I, Novelli A, Graziano C.
    Am J Med Genet A; 2016 Jan 22; 170A(1):162-9. PubMed ID: 26333654
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  • 13. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
    Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T.
    Clin Epigenetics; 2021 May 26; 13(1):119. PubMed ID: 34039421
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  • 15. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
    Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T.
    Clin Epigenetics; 2019 Mar 07; 11(1):42. PubMed ID: 30846001
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  • 16. 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 07; 59(5):505-510. PubMed ID: 33811134
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  • 17. Triphalangy of thumbs and great toes.
    Qazi QH, Smithwick EM.
    Am J Dis Child; 1970 Sep 07; 120(3):255-7. PubMed ID: 5458564
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  • 18. 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 07; 37(3):832-839. PubMed ID: 38372889
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  • 20. Monitoring of compound resting membrane potentials of cell cultures with ratiometric genetically encoded voltage indicators.
    Rühl P, Langner JM, Reidel J, Schönherr R, Hoshi T, Heinemann SH.
    Commun Biol; 2021 Oct 07; 4(1):1164. PubMed ID: 34620975
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