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Best matches for Mowat Wilson Syndrome:

Mowat-Wilson syndrome. Steiner CE et al. Arq Neuropsiquiatr. (2015)

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Garavelli L et al. Genet Med. (2017)

A Novel Partial Duplication of <i>ZEB2</i> and Review of <i>ZEB2</i> Involvement in Mowat-Wilson Syndrome. Baxter AL et al. Mol Syndromol. (2017)

Search results

Items: 1 to 20 of 139

1.

Functional characterization of the ZEB2 regulatory landscape.

Yaacov RB, Eshel R, Farhi E, Shemuluvich F, Kaplan T, Birnbaum RY.

Hum Mol Genet. 2018 Dec 26. doi: 10.1093/hmg/ddy440. [Epub ahead of print]

PMID:
30590588
2.

Mowat-Wilson Syndrome Presenting With Purpura Fulminans.

Nevarez Flores CG, Sun AP, Hast H.

Pediatrics. 2019 Jan;143(1). pii: e20180922. doi: 10.1542/peds.2018-0922.

PMID:
30573661
3.

Role of Zeb2/Sip1 in neuronal development.

Epifanova E, Babaev A, Newman AG, Tarabykin V.

Brain Res. 2018 Sep 25. pii: S0006-8993(18)30499-2. doi: 10.1016/j.brainres.2018.09.034. [Epub ahead of print] Review.

PMID:
30266271
4.

Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.

Gosso MF, Rohr C, Brun B, Mejico G, Madeira F, Fay F, Klurfan M, Vazquez M.

Hum Genome Var. 2018 Aug 1;5:21. doi: 10.1038/s41439-018-0021-y. eCollection 2018.

5.

Mutation in the Sip1 transcription factor leads to a disturbance of the preconditioning of AMPA receptors by episodes of hypoxia in neurons of the cerebral cortex due to changes in their activity and subunit composition. The protective effects of interleukin-10.

Turovskaya MV, Zinchenko VP, Babaev AA, Epifanova EA, Tarabykin VS, Turovsky EA.

Arch Biochem Biophys. 2018 Sep 15;654:126-135. doi: 10.1016/j.abb.2018.07.019. Epub 2018 Jul 27.

PMID:
30056076
6.

Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.

Cano Sierra JD, Mestra CF, Ronderos Dumit MA.

Cardiol Young. 2018 Aug;28(8):1074-1076. doi: 10.1017/S1047951118000689. Epub 2018 Jun 29.

PMID:
29954473
7.

Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.

Wei W, Liu B, Jiang H, Jin K, Xiang M.

Mol Neurobiol. 2018 Jun 19. doi: 10.1007/s12035-018-1186-6. [Epub ahead of print]

PMID:
29922981
8.

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.

Spunton M, Garavelli L, Mainardi PC, Emmig U, Finale E, Guala A.

Pediatr Rep. 2018 Mar 29;10(1):7514. doi: 10.4081/pr.2018.7514. eCollection 2018 Mar 22.

9.

Transcriptional Regulator ZEB2 Is Essential for Bergmann Glia Development.

He L, Yu K, Lu F, Wang J, Wu LN, Zhao C, Li Q, Zhou X, Liu H, Mu D, Xin M, Qiu M, Lu QR.

J Neurosci. 2018 Feb 7;38(6):1575-1587. doi: 10.1523/JNEUROSCI.2674-17.2018. Epub 2018 Jan 11.

10.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
11.

Mowat-Wilson syndrome presenting with fever-associated seizures.

Seo SE, Kim SH, Lee ST, Choi JR, Lee JS, Kim HD, Kang HC.

Epileptic Disord. 2017 Dec 1;19(4):481-485. doi: 10.1684/epd.2017.0949.

12.

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio PN, Contaldo I, Mercuri E, Marangi G.

Front Neurosci. 2017 Oct 18;11:587. doi: 10.3389/fnins.2017.00587. eCollection 2017. Review.

14.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier MP, Gaucherand P, Massardier J, Massoud M, Curie A, Pellot AS, Rivier F, Lacalm A, Clément A, Ville D, Guibaud L.

Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.

PMID:
28947381
15.

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.

Baxter AL, Vivian JL, Hagelstrom RT, Hossain W, Golden WL, Wassman ER, Vanzo RJ, Butler MG.

Mol Syndromol. 2017 Jun;8(4):211-218. doi: 10.1159/000473693. Epub 2017 May 3.

16.

Electrical status epilepticus during sleep in Mowat-Wilson syndrome.

Bonanni P, Negrin S, Volzone A, Zanotta N, Epifanio R, Zucca C, Osanni E, Petacchi E, Fabbro F.

Brain Dev. 2017 Oct;39(9):727-734. doi: 10.1016/j.braindev.2017.04.013. Epub 2017 May 10.

PMID:
28501473
17.

Sip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex.

Turovskaya MV, Babaev AA, Zinchenko VP, Epifanova EA, Borisova EV, Tarabykin VS, Turovsky EA.

Neurosci Lett. 2017 May 22;650:180-186. doi: 10.1016/j.neulet.2017.04.048. Epub 2017 Apr 25.

PMID:
28455101
18.

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

Teraishi M, Takaishi M, Nakajima K, Ikeda M, Higashi Y, Shimoda S, Asada Y, Hijikata A, Ohara O, Hiraki Y, Mizuno S, Fukada T, Furukawa T, Wakamatsu N, Sano S.

Sci Rep. 2017 Apr 19;7:46565. doi: 10.1038/srep46565.

19.

Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Rogac M, Kitanovski L, Writzl K.

Clin Dysmorphol. 2017 Jul;26(3):185-186. doi: 10.1097/MCD.0000000000000174. No abstract available.

PMID:
28230647
20.

Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.

Jiang Q, Zhang X, Ma Y, Li Q, Zheng C, Yan Y, Zhang Z, Xiao P, Su L, Cheng W, Pan H, Li L.

Clin Case Rep. 2016 Nov 17;5(1):9-13. doi: 10.1002/ccr3.741. eCollection 2017 Jan.

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