Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M.

Nat Genet. 2001 Apr;27(4):369-70.

PMID:
11279515
2.

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M.

Hum Mol Genet. 2001 Jul 1;10(14):1503-10.

PMID:
11448942
3.

Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.

Van de Putte T, Maruhashi M, Francis A, Nelles L, Kondoh H, Huylebroeck D, Higashi Y.

Am J Hum Genet. 2003 Feb;72(2):465-70. Epub 2003 Jan 9.

4.

Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality.

Nagaya M, Kato J, Niimi N, Tanaka S, Wakamatsu N.

J Pediatr Surg. 2002 Aug;37(8):1117-22.

PMID:
12149685
5.

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.

6.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S.

Am J Hum Genet. 2001 Dec;69(6):1370-7. Epub 2001 Oct 10.

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
8.

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.

9.

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
10.

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
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.

Mowat DR, Wilson MJ, Goossens M.

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

13.

PMX2B, a new candidate gene for Hirschsprung's disease.

Benailly HK, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP.

Clin Genet. 2003 Sep;64(3):204-9.

PMID:
12919134
14.

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
15.

Organization of the mouse Zfhx1b gene encoding the two-handed zinc finger repressor Smad-interacting protein-1.

Nelles L, Van de Putte T, van Grunsven L, Huylebroeck D, Verschueren K.

Genomics. 2003 Oct;82(4):460-9.

PMID:
13679026
16.

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K.

Am J Med Genet A. 2004 Nov 15;131(1):86-90.

PMID:
15384097
17.
18.

Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children.

Kääriäinen H, Wallgren-Pettersson C, Clarke A, Pihko H, Taskinen H, Rintala R.

Clin Dysmorphol. 2001 Jul;10(3):157-63.

PMID:
11446406
19.

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.

20.

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

Silengo M, Ferrero GB, Wakamatsu N.

Am J Med Genet A. 2004 May 15;127A(1):109. No abstract available.

PMID:
15103730

Supplemental Content

Support Center