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Journal Abstract Search

171 related items for PubMed ID: 29228531

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  • 2. First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
    Guterman S, Hervé B, Rivière J, Fauvert D, Clement P, Vialard F.
    J Obstet Gynaecol Res; 2018 Mar; 44(3):570-575. PubMed ID: 29160022
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  • 3. 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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  • 4. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Dec; 26(4):431-5. PubMed ID: 26852514
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  • 5. 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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  • 6. [Kleefstra syndrome: one case report].
    Li Y, Li X, Wang K, Ho M.
    Zhonghua Er Ke Za Zhi; 2014 Sep 03; 52(9):710-1. PubMed ID: 25476437
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  • 7. 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 03; 176(8):1773-1777. PubMed ID: 30063093
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  • 8. Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result.
    Chen CP, Lin SP, Li HB, Chen YN, Wang W.
    Taiwan J Obstet Gynecol; 2015 Aug 03; 54(4):450-1. PubMed ID: 26384070
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  • 9. Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.
    Arora V, Joshi A, Lall M, Agarwal S, Bijarnia Mahay S, Dua Puri R, Chander Verma I.
    Birth Defects Res; 2018 Sep 01; 110(15):1205-1209. PubMed ID: 30151876
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  • 10. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 01; 60(9):451-464. PubMed ID: 28645799
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  • 11. Otopathology in Kleefstra Syndrome: A Case Report.
    Okayasu T, Quesnel AM, Reinshagen KL, Nadol JB.
    Laryngoscope; 2020 Aug 01; 130(8):2028-2033. PubMed ID: 31750954
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  • 16. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C, Meunier-Cussac S, Madigand J.
    Neurocase; 2021 Jun 01; 27(3):227-230. PubMed ID: 34010111
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  • 19. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
    Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H.
    Dev Biol; 2014 Feb 15; 386(2):395-407. PubMed ID: 24362066
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