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Results: 1 to 20 of 28

1.

Mowat-Wilson syndrome associated with craniosynostosis.

Hartill VL, Pendlebury M, Hobson E.

Clin Dysmorphol. 2014 Jan;23(1):16-9. doi: 10.1097/MCD.0000000000000016. No abstract available.

PMID:
24300291
[PubMed - indexed for MEDLINE]
2.

Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.

Tanteles GA, Christophidou-Anastasiadou V.

Clin Dysmorphol. 2014 Jan;23(1):20-3. doi: 10.1097/MCD.0000000000000013. No abstract available.

PMID:
24263623
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.

Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ.

PLoS One. 2013 Aug 23;8(8):e73169. doi: 10.1371/journal.pone.0073169. eCollection 2013.

PMID:
24058414
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mowat-Wilson syndrome detected by using high resolution microarray.

Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ.

Gene. 2013 Dec 15;532(2):307-9. doi: 10.1016/j.gene.2013.07.067. Epub 2013 Sep 9.

PMID:
24029077
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23860154
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL.

Eur J Med Genet. 2013 Jun;56(6):297-300. doi: 10.1016/j.ejmg.2013.03.003. Epub 2013 Mar 21.

PMID:
23523603
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
Free Article
10.

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.

Meral C, Malbora B, Celikel F, Aydemir G, Süleymanoğlu S, Zollino M, Derbent M.

Turk J Pediatr. 2012 Sep-Oct;54(5):523-7.

PMID:
23427518
[PubMed - indexed for MEDLINE]
Free Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
23152852
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.

El-Kasti MM, Wells T, Carter DA.

Hum Mol Genet. 2012 Dec 15;21(26):5429-42. doi: 10.1093/hmg/dds389. Epub 2012 Sep 21.

PMID:
23001561
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
21497296
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
21343952
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome).

Ruggieri M, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V.

Acta Paediatr. 2011 Jan;100(1):121-7. doi: 10.1111/j.1651-2227.2010.01970.x.

PMID:
21143296
[PubMed - indexed for MEDLINE]
20.

Mowat-Wilson syndrome: the first two Malaysian cases.

Balasubramaniam S, Keng WT, Ngu LH, Michel LG, Irina G.

Singapore Med J. 2010 Mar;51(3):e54-7.

PMID:
20428734
[PubMed - indexed for MEDLINE]
Free Article

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