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Journal Abstract Search

277 related items for PubMed ID: 29188614

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  • 4. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
    Okur V, Nees S, Chung WK, Krishnan U.
    Am J Med Genet A; 2018 Aug; 176(8):1773-1777. PubMed ID: 30063093
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  • 8. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
    Wu D, Wang H, Zhang H, Hou Q, Qin L, Wang T, Xiao H, Liao S, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
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  • 10. [Kleefstra syndrome 1 and ring chromosome 9 in a case].
    Lyu N, Li D, Li J, Shang Q, Ma C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug 10; 36(8):837-840. PubMed ID: 31400141
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  • 11. 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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  • 12. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Mar 03; 26(4):431-5. PubMed ID: 26852514
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  • 13. [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
    Wang H, Feng Z, Yang K, Gao Y, Huo X, Qin L, Lou G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct 10; 34(5):695-698. PubMed ID: 28981936
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  • 14. [Genetic analysis of a child with cleidocranial dysplasia and 6q21-q22.31 microdeletion].
    Wu D, Li T, Hou Q, Huo X, Wang X, Wang T, Yang Y, Liu H, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr 10; 35(2):253-256. PubMed ID: 29653004
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  • 16. 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 10; 64(9):104289. PubMed ID: 34265435
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  • 17. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM.
    PLoS Genet; 2017 Oct 10; 13(10):e1006864. PubMed ID: 29069077
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  • 18. [Clinical and genetic analysis of three children patients with Kleefstra syndrome].
    Zhou T, Tong G, Zhu L, Li S, Li H, Dong W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb 10; 39(2):148-151. PubMed ID: 35076909
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