PubMed (OMIM) for id: 341067

Year	Number of Results
1998	1
1999	2
2001	5
2002	2
2003	4
2004	1
2024	0

1

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. Ishihara N, et al. J Med Genet. 2004 May;41(5):387-93. doi: 10.1136/jmg.2003.016154. J Med Genet. 2004. PMID: 15121779 Free PMC article. No abstract available.

2

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. Zweier C, et al. J Med Genet. 2003 Aug;40(8):601-5. doi: 10.1136/jmg.40.8.601. J Med Genet. 2003. PMID: 12920073 Free PMC article. No abstract available.

3

Multiple tumor suppressor pathways negatively regulate telomerase.

Lin SY, Elledge SJ. Lin SY, et al. Cell. 2003 Jun 27;113(7):881-9. doi: 10.1016/s0092-8674(03)00430-6. Cell. 2003. PMID: 12837246 Free article.

4

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.

5

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. Van de Putte T, et al. Am J Hum Genet. 2003 Feb;72(2):465-70. doi: 10.1086/346092. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522767 Free PMC article.

6

Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

Yoneda M, Fujita T, Yamada Y, Yamada K, Fujii A, Inagaki T, Nakagawa H, Shimada A, Kishikawa M, Nagaya M, Azuma T, Kuriyama M, Wakamatsu N. Yoneda M, et al. Neurology. 2002 Nov 26;59(10):1637-40. doi: 10.1212/01.wnl.0000034842.78350.4e. Neurology. 2002. PMID: 12451214

7

"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. Zweier C, et al. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

8

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. Amiel J, et al. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.

9

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. Yamada K, et al. Am J Hum Genet. 2001 Dec;69(6):1178-85. doi: 10.1086/324343. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11592033 Free PMC article.

10

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. Cacheux V, et al. Hum Mol Genet. 2001 Jul 1;10(14):1503-10. doi: 10.1093/hmg/10.14.1503. Hum Mol Genet. 2001. PMID: 11448942

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