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Journal Abstract Search

208 related items for PubMed ID: 26808425

  • 1. A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
    Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB.
    Eur J Med Genet; 2016 Apr; 59(4):240-8. PubMed ID: 26808425
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  • 4. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
    Campbell CL, Collins RT, Zarate YA.
    Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126
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  • 5. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
    Marchese G, Rizzo F, Guacci A, Weisz A, Coppola G.
    Neurol Sci; 2016 May; 37(5):829-31. PubMed ID: 26792009
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  • 6. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
    Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.
    J Biol Chem; 2017 Mar 03; 292(9):3866-3876. PubMed ID: 28057753
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  • 7. Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
    Huang Q, Xiong H, Tao Z, Yue F, Xiao N.
    Eur J Med Genet; 2021 Sep 03; 64(9):104289. PubMed ID: 34265435
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  • 8. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Sep 03; 26(4):431-5. PubMed ID: 26852514
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  • 13. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
    Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T.
    Am J Hum Genet; 2024 Aug 08; 111(8):1605-1625. PubMed ID: 39013458
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  • 14. Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
    Yamada A, Shimura C, Shinkai Y.
    J Hum Genet; 2018 May 08; 63(5):555-562. PubMed ID: 29459631
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  • 17. Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
    Martens MB, Frega M, Classen J, Epping L, Bijvank E, Benevento M, van Bokhoven H, Tiesinga P, Schubert D, Nadif Kasri N.
    Sci Rep; 2016 Oct 21; 6():35756. PubMed ID: 27767173
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  • 18. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
    Samango-Sprouse C, Lawson P, Sprouse C, Stapleton E, Sadeghin T, Gropman A.
    Am J Med Genet A; 2016 May 21; 170A(5):1312-6. PubMed ID: 26833960
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  • 19. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
    Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T.
    Clin Genet; 2024 Jun 21; 105(6):655-660. PubMed ID: 38384171
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  • 20. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C, Meunier-Cussac S, Madigand J.
    Neurocase; 2021 Jun 21; 27(3):227-230. PubMed ID: 34010111
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