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Results: 1 to 20 of 1103

1.

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
[PubMed - indexed for MEDLINE]
2.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
[PubMed - indexed for MEDLINE]
3.

Clinical features and management issues in Mowat-Wilson syndrome.

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L.

Am J Med Genet A. 2006 Dec 15;140(24):2730-41.

PMID:
17103451
[PubMed - indexed for MEDLINE]
4.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M.

Am J Med Genet A. 2003 Jun 15;119A(3):257-65.

PMID:
12784289
[PubMed - indexed for MEDLINE]
5.

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
6.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

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

PMID:
17958891
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M.

Hum Mutat. 2007 Apr;28(4):313-21.

PMID:
17203459
[PubMed - indexed for MEDLINE]
8.

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M.

J Med Genet. 2003 May;40(5):305-10. Review.

PMID:
12746390
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.

Sasongko TH, Sadewa AH, Gunadi, Lee MJ, Koterazawa K, Nishio H.

Kobe J Med Sci. 2007;53(4):157-62.

PMID:
17932455
[PubMed - indexed for MEDLINE]
Free Article
11.

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M.

Am J Med Genet A. 2005 Sep 1;137A(3):302-4.

PMID:
16088920
[PubMed - indexed for MEDLINE]
12.

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.

PMID:
16688751
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
14.

[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
[PubMed - indexed for MEDLINE]
15.

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A.

J Med Genet. 2003 Aug;40(8):601-5. No abstract available.

PMID:
12920073
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
17.

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z.

Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28.

PMID:
18445050
[PubMed - indexed for MEDLINE]
18.

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A.

Am J Med Genet. 2002 Mar 15;108(3):177-81.

PMID:
11891681
[PubMed - indexed for MEDLINE]
19.

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P, Pastore G, Zweier C, Rauch A.

J Med Genet. 2004 Feb;41(2):e16. No abstract available.

PMID:
14757866
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).

Sasso A, Paucić-Kirincić E, Kamber-Makek S, Sindicić N, Brajnović-Zaputović S, Brajenović-Milić B.

Childs Nerv Syst. 2008 May;24(5):615-8. doi: 10.1007/s00381-007-0557-5. Epub 2008 Feb 8.

PMID:
18259761
[PubMed - indexed for MEDLINE]
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