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- Amiel J., Espinosa-Parrilla Y., Steffann J., Gosset P., Pelet A., Prieur M., Boute O., Choiset A., Lacombe D., Philip N. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet. 2001 Oct 10;69(6):1370–1377. doi: 10.1086/324342. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Amiel J., Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2001 Nov;38(11):729–739. doi: 10.1136/jmg.38.11.729. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Attisano L., Wrana J. L. Smads as transcriptional co-modulators. Curr Opin Cell Biol. 2000 Apr;12(2):235–243. doi: 10.1016/s0955-0674(99)00081-2. [DOI] [PubMed] [Google Scholar]
- Brooks A. S., Breuning M. H., Osinga J., vd Smagt J. J., Catsman C. E., Buys C. H., Meijers C., Hofstra R. M. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet. 1999 Jun;36(6):485–489. [PMC free article] [PubMed] [Google Scholar]
- Brunoni D., Joffe R., Farah L. M., Cunha A. J. Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations. J Clin Dysmorphol. 1983 Spring;1(1):20–22. [PubMed] [Google Scholar]
- Cacheux V., Dastot-Le Moal F., Käriäinen H., Bondurand N., Rintala R., Boissier B., Wilson M., Mowat D., Goossens M. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet. 2001 Jul 1;10(14):1503–1510. doi: 10.1093/hmg/10.14.1503. [DOI] [PubMed] [Google Scholar]
- Eisaki A., Kuroda H., Fukui A., Asashima M. XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap. Biochem Biophys Res Commun. 2000 Apr 29;271(1):151–157. doi: 10.1006/bbrc.2000.2545. [DOI] [PubMed] [Google Scholar]
- Espinosa-Parrilla Yolanda, Amiel Jeanne, Augé Joëlle, Encha-Razavi Férechté, Munnich Arnold, Lyonnet Stanislas, Vekemans Michel, Attié-Bitach Tania. Expression of the SMADIP1 gene during early human development. Mech Dev. 2002 Jun;114(1-2):187–191. doi: 10.1016/s0925-4773(02)00062-x. [DOI] [PubMed] [Google Scholar]
- Fryer A. E. Goldberg-Shprintzen syndrome: report of a new family and review of the literature. Clin Dysmorphol. 1998 Apr;7(2):97–101. doi: 10.1097/00019605-199804000-00003. [DOI] [PubMed] [Google Scholar]
- Goldberg R. B., Shprintzen R. J. Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol. 1981;1(2):185–189. [PubMed] [Google Scholar]
- Halal F., Morel J. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. Am J Med Genet. 1990 Sep;37(1):106–108. doi: 10.1002/ajmg.1320370125. [DOI] [PubMed] [Google Scholar]
- Heldin C. H., Miyazono K., ten Dijke P. TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature. 1997 Dec 4;390(6659):465–471. doi: 10.1038/37284. [DOI] [PubMed] [Google Scholar]
- Hurst J. A., Markiewicz M., Kumar D., Brett E. M. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet. 1988 Jul;25(7):494–497. doi: 10.1136/jmg.25.7.494. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kumasaka K., Clarren S. K. Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon: a specific disorder? Am J Med Genet. 1988 Oct;31(2):465–466. doi: 10.1002/ajmg.1320310227. [DOI] [PubMed] [Google Scholar]
- Käriäinen H., Wallgren-Pettersson C., Clarke A., Pihko H., Taskinen H., Rintala R. Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children. Clin Dysmorphol. 2001 Jul;10(3):157–163. doi: 10.1097/00019605-200107000-00001. [DOI] [PubMed] [Google Scholar]
- Lurie I. W., Supovitz K. R., Rosenblum-Vos L. S., Wulfsberg E. A. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. Genet Couns. 1994;5(1):11–14. [PubMed] [Google Scholar]
- Mowat D. R., Croaker G. D., Cass D. T., Kerr B. A., Chaitow J., Adès L. C., Chia N. L., Wilson M. J. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998 Aug;35(8):617–623. doi: 10.1136/jmg.35.8.617. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ohnuma K., Imaizumi K., Masuno M., Nakamura M., Kuroki Y. Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) Am J Med Genet. 1997 Dec 12;73(2):230–232. [PubMed] [Google Scholar]
- Remacle J. E., Kraft H., Lerchner W., Wuytens G., Collart C., Verschueren K., Smith J. C., Huylebroeck D. New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites. EMBO J. 1999 Sep 15;18(18):5073–5084. doi: 10.1093/emboj/18.18.5073. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ryan A., Burn J., Court S., Jackson T., Clayton Smith J., Barwick D. Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis. Clin Dysmorphol. 1999 Jan;8(1):15–18. [PubMed] [Google Scholar]
- Verschueren K., Remacle J. E., Collart C., Kraft H., Baker B. S., Tylzanowski P., Nelles L., Wuytens G., Su M. T., Bodmer R. SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes. J Biol Chem. 1999 Jul 16;274(29):20489–20498. doi: 10.1074/jbc.274.29.20489. [DOI] [PubMed] [Google Scholar]
- Wakamatsu N., Yamada Y., Yamada K., Ono T., Nomura N., Taniguchi H., Kitoh H., Mutoh N., Yamanaka T., Mushiake K. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001 Apr;27(4):369–370. doi: 10.1038/86860. [DOI] [PubMed] [Google Scholar]
- Watanabe M., Whitman M. The role of transcription factors involved in TGFbeta superfamily signaling during development. Cell Mol Biol (Noisy-le-grand) 1999 Jul;45(5):537–543. [PubMed] [Google Scholar]
- Williams C. A., Lossie A., Driscoll D., R.C. Phillips Unit Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet. 2001 Jun 1;101(1):59–64. doi: 10.1002/ajmg.1316. [DOI] [PubMed] [Google Scholar]
- Yomo A., Taira T., Kondo I. Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. Am J Med Genet. 1991 Nov 1;41(2):188–191. doi: 10.1002/ajmg.1320410211. [DOI] [PubMed] [Google Scholar]
- Zweier Christiane, Albrecht Beate, Mitulla Beate, Behrens Rolf, Beese Maike, Gillessen-Kaesbach Gabriele, Rott Hans-Dieter, Rauch Anita. "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. Am J Med Genet. 2002 Mar 15;108(3):177–181. [PubMed] [Google Scholar]
- ten Dijke P., Miyazono K., Heldin C. H. Signaling inputs converge on nuclear effectors in TGF-beta signaling. Trends Biochem Sci. 2000 Feb;25(2):64–70. doi: 10.1016/s0968-0004(99)01519-4. [DOI] [PubMed] [Google Scholar]
- van Grunsven L. A., Papin C., Avalosse B., Opdecamp K., Huylebroeck D., Smith J. C., Bellefroid E. J. XSIP1, a Xenopus zinc finger/homeodomain encoding gene highly expressed during early neural development. Mech Dev. 2000 Jun;94(1-2):189–193. doi: 10.1016/s0925-4773(00)00318-x. [DOI] [PubMed] [Google Scholar]