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Best matches for wolf hirschhorn syndrome:

Wolf-Hirschhorn syndrome: A review and update. Battaglia A et al. Am J Med Genet C Semin Med Genet. (2015)

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review]. Blanco-Lago R et al. Rev Neurol. (2017)

[The Wolf-Hirschhorn Syndrome]. Friebe-Hoffmann U et al. Z Geburtshilfe Neonatol. (2016)

Search results

Items: 1 to 20 of 508

1.

Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing.

Aral C, Demirkesen S, Bircan R, Yasar Sirin D.

Cell Biol Int. 2019 Nov 27. doi: 10.1002/cbin.11274. [Epub ahead of print]

PMID:
31777134
2.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group, Douglas D, Lapunzina P.

Am J Med Genet A. 2019 Nov 25. doi: 10.1002/ajmg.a.61406. [Epub ahead of print]

PMID:
31769173
3.

Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature.

King C, Mota PM, Hildebrand GD.

J AAPOS. 2019 Oct;23(5):303-305. doi: 10.1016/j.jaapos.2019.06.004. Epub 2019 Sep 9.

PMID:
31513906
4.

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.

Jiang Y, Sun H, Lin Q, Wang Z, Wang G, Wang J, Jiang F, Yao R.

BMC Med Genet. 2019 Aug 5;20(1):134. doi: 10.1186/s12881-019-0863-2.

5.

WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer.

Wu J, Luo M, Duan Z, Jia Y, Linghu H, Tian P, Qi H.

Onco Targets Ther. 2019 Jun 17;12:4683-4690. doi: 10.2147/OTT.S204701. eCollection 2019.

6.

[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].

Cammarata-Scalisi F, Blanco Lago R, Barruz Galián P, Lapunzina Badía P, Araque D, Da Silva G, Lacruz-Rengel MA, Avendaño A, Nevado Blanco J.

Arch Argent Pediatr. 2019 Aug 1;117(4):e406-e412. doi: 10.5546/aap.2019.e406. Spanish.

7.

A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences.

McDevitt PJ, Schneck JL, Diaz E, Hou W, Huddleston MJ, Matico RE, McCormick PM, Kirkpatrick RB.

Protein Expr Purif. 2019 Dec;164:105455. doi: 10.1016/j.pep.2019.105455. Epub 2019 Jul 12.

PMID:
31306746
8.

[Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation].

Xing Y, Xiong S, Yuan M, Deng L, Zhou J, Zou G, Sun L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):682-685. doi: 10.3760/cma.j.issn.1003-9406.2019.07.006. Chinese.

PMID:
31302910
9.

The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome.

Lasser M, Pratt B, Monahan C, Kim SW, Lowery LA.

Front Physiol. 2019 Jun 26;10:817. doi: 10.3389/fphys.2019.00817. eCollection 2019.

10.

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.

Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ.

Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004044. doi: 10.1101/mcs.a004044. Print 2019 Aug.

11.

LETM1: Essential for Mitochondrial Biology and Cation Homeostasis?

Austin S, Nowikovsky K.

Trends Biochem Sci. 2019 Aug;44(8):648-658. doi: 10.1016/j.tibs.2019.04.002. Epub 2019 May 14. Review.

12.

The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation.

Kojima M, Sone K, Oda K, Hamamoto R, Kaneko S, Oki S, Kukita A, Machino H, Honjoh H, Kawata Y, Kashiyama T, Asada K, Tanikawa M, Mori-Uchino M, Tsuruga T, Nagasaka K, Matsumoto Y, Wada-Hiraike O, Osuga Y, Fujii T.

BMC Cancer. 2019 May 15;19(1):455. doi: 10.1186/s12885-019-5638-9.

13.

Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis.

Mills A, Bearce E, Cella R, Kim SW, Selig M, Lee S, Lowery LA.

Front Physiol. 2019 Apr 12;10:431. doi: 10.3389/fphys.2019.00431. eCollection 2019.

14.

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.

Jørgensen IF, Russo F, Jensen AB, Westergaard D, Lademann M, Hu JX, Brunak S, Belling K.

Genet Med. 2019 Nov;21(11):2485-2495. doi: 10.1038/s41436-019-0519-9. Epub 2019 Apr 25.

15.

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.

Lee D, Na S, Park S, Go S, Ma J, Yang S, Kim K, Lee S, Hwang D.

Mol Cytogenet. 2019 Feb 26;12:10. doi: 10.1186/s13039-019-0422-8. eCollection 2019.

16.

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.

Lin QT, Stathopulos PB.

Int J Mol Sci. 2019 Jan 12;20(2). pii: E286. doi: 10.3390/ijms20020286. Review.

17.

Epigenetic Deregulation in Human Primary Immunodeficiencies.

Campos-Sanchez E, Martínez-Cano J, Del Pino Molina L, López-Granados E, Cobaleda C.

Trends Immunol. 2019 Jan;40(1):49-65. doi: 10.1016/j.it.2018.11.005. Epub 2018 Nov 30. Review.

PMID:
30509895
18.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA.

J Pediatr Genet. 2018 Dec;7(4):164-173. doi: 10.1055/s-0038-1655755. Epub 2018 May 30.

19.

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Yamamoto-Shimojima K, Kouwaki M, Kawashima Y, Itomi K, Momosaki K, Ozasa S, Okamoto N, Yokochi K, Yamamoto T.

Congenit Anom (Kyoto). 2019 Sep;59(5):169-173. doi: 10.1111/cga.12318. Epub 2018 Nov 15.

PMID:
30378700
20.

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.

Wang C, Ren H, Dong H, Liang M, Wu Q, Liao Y.

Mol Cytogenet. 2018 Oct 19;11:55. doi: 10.1186/s13039-018-0404-2. eCollection 2018.

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