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Items: 1 to 20 of 53

1.

Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

Valera ET, Ferraz ST, Brassesco MS, Zhen X, Shen Y, dos Santos AC, Neder L, Oliveira RS, Scrideli CA, Tone LG.

Childs Nerv Syst. 2013 Dec;29(12):2151-5. doi: 10.1007/s00381-013-2283-5. Epub 2013 Oct 3.

PMID:
24092421
2.

Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome.

Benedetti-Isaac JC, Torres-Zambrano M, Alcalá-Cerra G, Gutiérrez-Paternina JJ.

Neurol India. 2013 May-Jun;61(3):306-7. doi: 10.4103/0028-3886.115074. No abstract available.

3.

Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA?

Cordelli DM, Pellicciari A, Kiriazopulos D, Franzoni E, Garavelli L.

Epilepsia. 2013 Jul;54(7):1331-2. doi: 10.1111/epi.12204. No abstract available.

4.

A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.

Kiraz A, Aldemir O, Karabulut Y, Turan C, Dundar M.

Genet Couns. 2013;24(1):61-8.

PMID:
23610866
5.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.

Hum Mol Genet. 2013 Jul 1;22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5.

PMID:
23466526
6.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E.

Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15.

PMID:
23322667
7.

Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons.

McKinsey GL, Lindtner S, Trzcinski B, Visel A, Pennacchio LA, Huylebroeck D, Higashi Y, Rubenstein JL.

Neuron. 2013 Jan 9;77(1):83-98. doi: 10.1016/j.neuron.2012.11.035.

8.

Directed migration of cortical interneurons depends on the cell-autonomous action of Sip1.

van den Berghe V, Stappers E, Vandesande B, Dimidschstein J, Kroes R, Francis A, Conidi A, Lesage F, Dries R, Cazzola S, Berx G, Kessaris N, Vanderhaeghen P, van Ijcken W, Grosveld FG, Goossens S, Haigh JJ, Fishell G, Goffinet A, Aerts S, Huylebroeck D, Seuntjens E.

Neuron. 2013 Jan 9;77(1):70-82. doi: 10.1016/j.neuron.2012.11.009.

9.

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

Ariss M, Natan K, Friedman N, Traboulsi EI.

Ophthalmic Genet. 2012 Sep;33(3):159-60. doi: 10.3109/13816810.2011.610860. Epub 2012 Apr 9.

PMID:
22486326
10.

The behavioral phenotype of Mowat-Wilson syndrome.

Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M.

Am J Med Genet A. 2012 Feb;158A(2):358-66. doi: 10.1002/ajmg.a.34405. Epub 2012 Jan 13.

PMID:
22246645
11.

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.

12.

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.

13.

Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development.

Cui S, Erlichman J, Russo P, Haber BA, Matthews RP.

J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):339-44. doi: 10.1097/MPG.0b013e3181ff2e5b.

PMID:
21336163
14.

Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.

Stanchina L, Van de Putte T, Goossens M, Huylebroeck D, Bondurand N.

Dev Biol. 2010 May 15;341(2):416-28. doi: 10.1016/j.ydbio.2010.02.036. Epub 2010 Mar 4.

15.

Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome.

Leong M, Verey F, Newbury-Ecob R, Ramani P.

Pediatr Dev Pathol. 2010 Sep-Oct;13(5):415-8. doi: 10.2350/09-09-0715-CR.1. Epub 2010 Feb 16.

PMID:
20158378
16.

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D.

J Appl Genet. 2010;51(1):111-3.

PMID:
20145308
17.

Mowat-Wilson syndrome with associated dysphagia.

Prijoles EJ, Adam M.

Am J Med Genet A. 2010 Feb;152A(2):484-5. doi: 10.1002/ajmg.a.33211. No abstract available.

PMID:
20101699
18.

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

Saunders CJ, Zhao W, Ardinger HH.

Am J Med Genet A. 2009 Nov;149A(11):2527-31. doi: 10.1002/ajmg.a.33067.

PMID:
19842203
19.

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome.

Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A.

J Pediatr Surg. 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066.

PMID:
19302864
20.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041

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