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Items: 1 to 20 of 387

1.

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
2.

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
3.

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
4.

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
5.

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
6.

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M.

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

7.

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

Sztriha L, Espinosa-Parrilla Y, Gururaj A, Amiel J, Lyonnet S, Gerami S, Johansen JG.

Neuropediatrics. 2003 Dec;34(6):322-5.

PMID:
14681759
8.

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
9.

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.

10.

"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
11.

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi C, Zweier C, Rauch A, Zollino M, Neri G.

Am J Med Genet A. 2003 Feb 1;116A(4):385-8. No abstract available.

PMID:
12522797
12.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

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

13.

Mowat-Wilson syndrome affecting 3 siblings.

Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N.

J Child Neurol. 2008 Mar;23(3):274-8. doi: 10.1177/0883073807309231. Epub 2008 Jan 29.

PMID:
18230842
14.

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.

15.

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
16.

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N.

Am J Hum Genet. 2001 Dec;69(6):1178-85. Epub 2001 Oct 2.

17.

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.

18.

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N.

J Med Genet. 2004 May;41(5):387-93. No abstract available.

19.

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
20.

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

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