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Journal Abstract Search

199 related items for PubMed ID: 29160022

  • 1. 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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  • 2. Kleefstra Syndrome: The First Case Report From Iran.
    Noruzinia M, Ahmadvand M, Bashti O, Salehi Chaleshtori AR.
    Acta Med Iran; 2017 Oct; 55(10):650-654. PubMed ID: 29228531
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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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  • 8. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
    Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D.
    Cytogenet Genome Res; 2018 Dec; 156(3):127-133. PubMed ID: 30448833
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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. [Kleefstra syndrome: one case report].
    Li Y, Li X, Wang K, Ho M.
    Zhonghua Er Ke Za Zhi; 2014 Sep 01; 52(9):710-1. PubMed ID: 25476437
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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. 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 03; 60(9):451-464. PubMed ID: 28645799
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  • 13. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
    Huang LY, Yang Y, He P, Li DZ.
    J Obstet Gynaecol; 2017 Apr 03; 37(3):327-329. PubMed ID: 27966372
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  • 18. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C, Meunier-Cussac S, Madigand J.
    Neurocase; 2021 Jun 03; 27(3):227-230. PubMed ID: 34010111
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  • 19. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
    Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, Wang T, Yang Y, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):849-852. PubMed ID: 29188614
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  • 20. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
    Jobic F, Lacot-Leriche E, Piton A, Le Moing AG, Mathieu-Dramard M, Costantini S, Morin G, Jedraszak G.
    Am J Med Genet A; 2021 Dec 10; 185(12):3877-3883. PubMed ID: 34357686
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