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Best matches for "Kleefstra syndrome":

Kleefstra Syndrome Kleefstra T et al. . (1993)

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

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. Hadzsiev K et al. Mol Cytogenet. (2016)

Search results

Items: 1 to 20 of 62

1.

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

Kohli U.

Cardiol Young. 2018 Dec 26:1-3. doi: 10.1017/S104795111800210X. [Epub ahead of print]

PMID:
30585561
2.

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.

PMID:
30448833
3.

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.

4.

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
5.

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.

PMID:
30063093
6.

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.

7.

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
8.

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.

9.

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.

10.

[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
11.

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
12.

Epigenetic Etiology of Intellectual Disability.

Iwase S, Bérubé NG, Zhou Z, Kasri NN, Battaglioli E, Scandaglia M, Barco A.

J Neurosci. 2017 Nov 8;37(45):10773-10782. doi: 10.1523/JNEUROSCI.1840-17.2017. Review.

13.

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 25;13(10):e1006864. doi: 10.1371/journal.pgen.1006864. eCollection 2017 Oct.

14.

Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.

Nagy J, Kobolák J, Berzsenyi S, Ábrahám Z, Avci HX, Bock I, Bekes Z, Hodoscsek B, Chandrasekaran A, Téglási A, Dezső P, Koványi B, Vörös ET, Fodor L, Szél T, Németh K, Balázs A, Dinnyés A, Lendvai B, Lévay G, Román V.

Transl Psychiatry. 2017 Jul 25;7(7):e1179. doi: 10.1038/tp.2017.144.

15.

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;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.

16.

Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment.

Vermeulen K, Staal WG, Janzing JG, van Bokhoven H, Egger JIM, Kleefstra T.

Clin Neuropharmacol. 2017 Jul/Aug;40(4):185-188. doi: 10.1097/WNF.0000000000000226.

PMID:
28622207
17.

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, Verhoef FM, van Deurzen PAM, van Dongen L, van Bokhoven H, Egger JIM, Staal WG, Kleefstra T.

Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38280. [Epub ahead of print]

PMID:
28498556
18.

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Blackburn PR, Williams M, Cousin MA, Boczek NJ, Beek GJ, Lomberk GA, Urrutia RA, Babovic-Vuksanovic D, Klee EW.

Mol Genet Genomic Med. 2017 Jan 26;5(2):141-146. doi: 10.1002/mgg3.268. eCollection 2017 Mar.

19.

A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.

Mitra AK, Dodge J, Van Ness J, Sokeye I, Van Ness B.

Mol Genet Genomic Med. 2016 Dec 26;5(2):130-140. doi: 10.1002/mgg3.265. eCollection 2017 Mar.

20.

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.

Benevento M, Oomen CA, Horner AE, Amiri H, Jacobs T, Pauwels C, Frega M, Kleefstra T, Kopanitsa MV, Grant SG, Bussey TJ, Saksida LM, Van der Zee CE, van Bokhoven H, Glennon JC, Kasri NN.

Sci Rep. 2017 Jan 10;7:40284. doi: 10.1038/srep40284.

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