Mowat-Wilson syndrome
暂无分享,去创建一个
[1] Meredith Wilson,et al. Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation , 2005, American journal of medical genetics. Part A.
[2] D. Horn,et al. Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype , 2006, American journal of medical genetics. Part A.
[3] A. Salt,et al. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21 , 2004, American journal of medical genetics. Part A.
[4] N. Nomura,et al. Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. , 2001, American journal of human genetics.
[5] N. Wakamatsu,et al. Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. , 2002, Journal of pediatric surgery.
[6] A. Munnich,et al. Expression of the SMADIP1 gene during early human development , 2002, Mechanisms of Development.
[7] Yigong Shi,et al. Structural insights on Smad function in TGFβ signaling , 2001 .
[8] A. Munnich,et al. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. , 2001, American journal of human genetics.
[9] E. Zackai,et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections , 2003, Journal of medical genetics.
[10] S. Bernasconi,et al. Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B) , 2005, Hormone Research in Paediatrics.
[11] J. Graham,et al. Clinical features and management issues in Mowat–Wilson syndrome , 2006, American journal of medical genetics. Part A.
[12] I. Krantz,et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. , 2005, European journal of medical genetics.
[13] G. Bassez,et al. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome , 2004, Neurobiology of Disease.
[14] D. Huylebroeck,et al. New mode of DNA binding of multi‐zinc finger transcription factors: δEF1 family members bind with two hands to two target sites , 1999, The EMBO journal.
[15] A. Rauch,et al. A missense mutation in the ZFHX1B gene associated with an atypical Mowat–Wilson syndrome phenotype , 2006, American journal of medical genetics. Part A.
[16] Y. Shi,et al. Structural insights on Smad function in TGFbeta signaling. , 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.
[17] Meredith Wilson,et al. ZFHX1B mutations in patients with Mowat‐Wilson syndrome , 2007, Human mutation.
[18] G. Ferrero,et al. Pachygyria and cerebellar hypoplasia in a patient with a 2q22‐q23 deletion that includes the ZFHX1B gene , 2004, American journal of medical genetics. Part A.
[19] G. Ferrero,et al. Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome , 2003, American journal of medical genetics. Part A.
[20] E. Passarge. Wither polygenic inheritance: Mapping Hirschsprung disease , 1993, Nature Genetics.
[21] Dian Donnai,et al. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B , 2003, American journal of medical genetics. Part A.
[22] L. Garavelli,et al. Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat‐Wilson syndrome , 2003, American journal of medical genetics. Part A.
[23] A. Rauch,et al. Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity , 2004, Journal of Medical Genetics.
[24] A Chakravarti,et al. Hirschsprung disease, associated syndromes and genetics: a review , 2001, Journal of Medical Genetics.
[25] I. Lurie,et al. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. , 1994, Genetic counseling.
[26] A. Rauch,et al. "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. , 2002, American journal of medical genetics.
[27] N. Nomura,et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease , 2001, Nature Genetics.
[28] M. Whitman,et al. The role of transcription factors involved in TGFbeta superfamily signaling during development. , 1999, Cellular and molecular biology.
[29] M. Goossens,et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. , 2001, Human molecular genetics.
[30] H. Dörr,et al. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. , 2001, American journal of medical genetics.
[31] J. Osinga,et al. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) , 1999, Journal of medical genetics.
[32] S. Bernasconi,et al. Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature , 2009, American journal of medical genetics. Part A.
[33] B. Kerr,et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. , 1998, Journal of medical genetics.
[34] N. Wakamatsu,et al. Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. , 2005, Journal of pediatric surgery.
[35] L. Nelles,et al. SIP1, a Novel Zinc Finger/Homeodomain Repressor, Interacts with Smad Proteins and Binds to 5′-CACCT Sequences in Candidate Target Genes* , 1999, The Journal of Biological Chemistry.
[36] S. Lyonnet,et al. Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). , 2003, Neuropediatrics.
[37] Denise Horn,et al. Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease , 2004, American journal of medical genetics. Part A.
[38] A. Clarke,et al. Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children. , 2001, Clinical dysmorphology.
[39] Carel Meijers,et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. , 2005, American journal of human genetics.
[40] R. Shprintzen,et al. Hirschsprung megacolon and cleft palate in two sibs. , 1981, Journal of craniofacial genetics and developmental biology.
[41] M. Parisi,et al. Genetics of Hirschsprung disease , 2000, Current opinion in pediatrics.
[42] L. Nelles,et al. 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. , 2003, American journal of human genetics.
[43] M. Vrijheid,et al. Toward the effective surveillance of hypospadias. , 2003, Environmental health perspectives.
[44] N. Wakamatsu,et al. Late infantile Hirschsprung disease–mental retardation syndrome with a 3-bp deletion in ZFHX1B , 2002, Neurology.
[45] K. Tanaka,et al. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1 , 2004, Journal of Medical Genetics.
[46] E. Bakker,et al. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. , 2007, European journal of medical genetics.
[47] A. Munnich,et al. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum , 2004, Prenatal diagnosis.