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Journal Abstract Search

408 related items for PubMed ID: 26852514

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  • 6. 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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  • 7. 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; 37(3):327-329. PubMed ID: 27966372
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  • 8. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
    la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
    Am J Med Genet A; 2013 Jun; 161A(6):1447-52. PubMed ID: 23633410
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  • 9. [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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  • 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 10; 60(9):451-464. PubMed ID: 28645799
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  • 11. Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.
    Hervé B, Roume J, Cognard S, Fauvert D, Molina-Gomes D, Vialard F.
    Eur J Med Genet; 2015 Sep 10; 58(6-7):346-50. PubMed ID: 25963108
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  • 12. 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 10; 54(4):450-1. PubMed ID: 26384070
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  • 14. 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 10; 37(5):829-31. PubMed ID: 26792009
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  • 16. 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 10; 59(4):240-8. PubMed ID: 26808425
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  • 17. 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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