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Items: 15

1.

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.

PMID:
28690488
2.

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.

3.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

4.

Anaesthetic management of Mowat-Wilson syndrome.

Deshmukh AS, Kelkar KV, Khedkar SM, Gavali Y.

Indian J Anaesth. 2016 Apr;60(4):292-4. doi: 10.4103/0019-5049.179472. No abstract available.

5.

Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome.

Besterman AD, Hendren RL.

J Child Adolesc Psychopharmacol. 2015 Oct;25(8):656-7. doi: 10.1089/cap.2015.0107. Epub 2015 Sep 24. No abstract available.

6.

The shape of the human language-ready brain.

Boeckx C, Benítez-Burraco A.

Front Psychol. 2014 Apr 4;5:282. doi: 10.3389/fpsyg.2014.00282. eCollection 2014.

7.

Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.

Manthey AL, Lachke SA, FitzGerald PG, Mason RW, Scheiblin DA, McDonald JH, Duncan MK.

Mech Dev. 2014 Feb;131:86-110. doi: 10.1016/j.mod.2013.09.005. Epub 2013 Oct 23.

8.

A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.

Capitan A, Allais-Bonnet A, Pinton A, Marquant-Le Guienne B, Le Bourhis D, Grohs C, Bouet S, Clément L, Salas-Cortes L, Venot E, Chaffaux S, Weiss B, Delpeuch A, Noé G, Rossignol MN, Barbey S, Dozias D, Cobo E, Barasc H, Auguste A, Pannetier M, Deloche MC, Lhuilier E, Bouchez O, Esquerré D, Salin G, Klopp C, Donnadieu C, Chantry-Darmon C, Hayes H, Gallard Y, Ponsart C, Boichard D, Pailhoux E.

PLoS One. 2012;7(11):e49084. doi: 10.1371/journal.pone.0049084. Epub 2012 Nov 9.

9.

Transcription factor pathways and congenital heart disease.

McCulley DJ, Black BL.

Curr Top Dev Biol. 2012;100:253-77. doi: 10.1016/B978-0-12-387786-4.00008-7. Review.

10.

Clinical review of genetic epileptic encephalopathies.

Noh GJ, Jane Tavyev Asher Y, Graham JM Jr.

Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25. Review.

11.

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A.

Indian J Hum Genet. 2007 Sep;13(3):122-4. doi: 10.4103/0971-6866.38988.

12.

Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

Kluk MJ, An Y, James P, Coulter D, Harris D, Wu BL, Shen Y.

J Mol Diagn. 2011 May;13(3):363-7. doi: 10.1016/j.jmoldx.2011.01.008.

13.

Clinical utility gene card for: Mowat-Wilson syndrome.

Zollino M, Garavelli L, Rauch A.

Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23. No abstract available.

14.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576.

15.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.

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