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Best matches for "Kleefstra syndrome":

Kleefstra Syndrome Kleefstra T et al. . (1993)

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. Ciaccio C et al. Cytogenet Genome Res. (2018)

Kleefstra Syndrome: The First Case Report From Iran. Noruzinia M et al. Acta Med Iran. (2017)

Search results

Items: 1 to 20 of 70

1.

KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.

Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW.

Clin Epigenetics. 2020 Jan 10;12(1):10. doi: 10.1186/s13148-019-0802-2. Review.

2.

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.

Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N.

Cell Rep. 2020 Jan 7;30(1):173-186.e6. doi: 10.1016/j.celrep.2019.12.002.

3.

Otopathology in Kleefstra Syndrome: A Case Report.

Okayasu T, Quesnel AM, Reinshagen KL, Nadol JB Jr.,.

Laryngoscope. 2019 Nov 21. doi: 10.1002/lary.28380. [Epub ahead of print]

PMID:
31750954
4.

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.

Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N.

Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3.

5.

[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. doi: 10.3760/cma.j.issn.1003-9406.2019.08.021. Chinese.

PMID:
31400141
6.

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Bonati MT, Castronovo C, Sironi A, Zimbalatti D, Bestetti I, Crippa M, Novelli A, Loddo S, Dentici ML, Taylor J, Devillard F, Larizza L, Finelli P.

Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17.

7.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.

Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F.

Prenat Diagn. 2019 May;39(6):464-470. doi: 10.1002/pd.5449. Epub 2019 Apr 29.

PMID:
30896039
8.

Kleefstra Syndrome.

Kleefstra T, de Leeuw N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2010 Oct 5 [updated 2019 Mar 21].

9.

Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease.

Wickramasekara RN, Stessman HAF.

Biology (Basel). 2019 Mar 3;8(1). pii: E11. doi: 10.3390/biology8010011. Review.

10.

Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome).

Kohli U.

Cardiol Young. 2019 Feb;29(2):249-251. doi: 10.1017/S104795111800210X. Epub 2018 Dec 26.

PMID:
30585561
11.

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;156(3):127-133. doi: 10.1159/000494532. Epub 2018 Nov 17. Review.

PMID:
30448833
12.

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.

Torga AP, Hodax J, Mori M, Schwab J, Quintos JB.

Case Rep Endocrinol. 2018 Oct 2;2018:4283267. doi: 10.1155/2018/4283267. eCollection 2018.

13.

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 1;110(15):1205-1209. doi: 10.1002/bdr2.1379. Epub 2018 Aug 27. No abstract available.

PMID:
30151876
14.

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. doi: 10.1002/ajmg.a.38852. Epub 2018 Jul 31.

15.

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.

Iacono G, Dubos A, Méziane H, Benevento M, Habibi E, Mandoli A, Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG.

Nucleic Acids Res. 2018 Jun 1;46(10):4950-4965. doi: 10.1093/nar/gky196.

16.

Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.

Yamada A, Shimura C, Shinkai Y.

J Hum Genet. 2018 May;63(5):555-562. doi: 10.1038/s10038-018-0413-3. Epub 2018 Feb 19.

PMID:
29459631
17.

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.

de Boer A, Vermeulen K, Egger JIM, Janzing JGE, de Leeuw N, Veenstra-Knol HE, den Hollander NS, van Bokhoven H, Staal W, Kleefstra T.

Mol Autism. 2018 Jan 25;9:5. doi: 10.1186/s13229-018-0193-9. eCollection 2018.

18.

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.

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. doi: 10.3760/cma.j.issn.1003-9406.2017.06.014. Chinese.

PMID:
29188614
20.

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. doi: 10.1111/jog.13517. Epub 2017 Nov 21. Review.

PMID:
29160022

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