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Items: 1 to 20 of 408

1.

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
2.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

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

3.

Mowat-Wilson syndrome: neurological and molecular study in seven patients.

Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ.

Arq Neuropsiquiatr. 2015 Jan;73(1):12-7. doi: 10.1590/0004-282X20140182. Epub 2015 Jan 1.

4.

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
5.

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.

Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Erratum in: Am J Med Genet A. 2015 Jun;167(6):1428.

PMID:
24715670
6.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Erratum in: Am J Med Genet A. 2015 Jul;167(7):1682-3.

PMID:
25123255
7.

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
8.

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
9.

Sleep disturbance in Mowat-Wilson syndrome.

Evans E, Mowat D, Wilson M, Einfeld S.

Am J Med Genet A. 2016 Mar;170(3):654-60. doi: 10.1002/ajmg.a.37502. Epub 2015 Dec 21.

PMID:
26686679
10.

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
11.

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R.

Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4.

12.

[Mowat-Wilson syndrome: a report of three Danish cases].

Nissen KB, Søndergaard C, Thelle T, Møller RS.

Ugeskr Laeger. 2011 Sep 5;173(36):2199-200. Danish.

PMID:
21893004
13.

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
14.

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

Moore SW, Fieggen K, Honey E, Zaahl M.

J Pediatr Surg. 2016 Feb;51(2):268-71. doi: 10.1016/j.jpedsurg.2015.10.070. Epub 2015 Nov 5.

PMID:
26852091
15.

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L.

Am J Med Genet A. 2015 Jul;167(7):1587-92. doi: 10.1002/ajmg.a.36898. Epub 2015 Apr 21.

PMID:
25899569
16.

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.

17.

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

Buraniqi E, Moodley M.

J Child Neurol. 2015 Jan;30(1):32-6. doi: 10.1177/0883073814535501. Epub 2014 Jul 14.

PMID:
25028418
18.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM Jr.

Eur J Med Genet. 2016 Feb;59(2):70-4. doi: 10.1016/j.ejmg.2015.12.006. Epub 2015 Dec 22.

PMID:
26721324
19.

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
20.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.

Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.

Dev Med Child Neurol. 2014 Jan;56(1):85-90. doi: 10.1111/dmcn.12322. Epub 2013 Oct 25.

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