Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

[1]  K. Devriendt,et al.  Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients , 2016, Genetics in Medicine.

[2]  P. Puri,et al.  Hirschsprung’s disease in children with Mowat–Wilson syndrome , 2015, Pediatric Surgery International.

[3]  C. Creuzot-Garcher,et al.  Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome , 2015, American journal of medical genetics. Part A.

[4]  K. Yokochi,et al.  The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations , 2014, American journal of medical genetics. Part A.

[5]  H. Fuchs,et al.  Smad‐interacting protein 1 affects acute and tonic, but not chronic pain , 2014, European journal of pain.

[6]  S. Lyonnet,et al.  ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. , 2013, Human molecular genetics.

[7]  L. Garavelli,et al.  Epilepsy in Mowat‐Wilson syndrome: Is it a matter of GABA? , 2013, Epilepsia.

[8]  F. Licata,et al.  Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype , 2013, American journal of medical genetics. Part A.

[9]  B. Tonge,et al.  The behavioral phenotype of Mowat–Wilson syndrome , 2012, American journal of medical genetics. Part A.

[10]  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.

[11]  C. Pantaleoni,et al.  Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene , 2008, American journal of medical genetics. Part A.

[12]  M. Hsiung,et al.  The prevalence and clinical impact of pulmonary artery sling on school‐aged children: A large‐scale screening study , 2008, Pediatric pulmonology.

[13]  A. G. de Herreros,et al.  A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition. , 2008, Genes & development.

[14]  T. Nakayama,et al.  Mowat-Wilson Syndrome Affecting 3 Siblings , 2008, Journal of child neurology.

[15]  L. Garavelli,et al.  Mowat-Wilson syndrome , 2007, Orphanet journal of rare diseases.

[16]  Meredith Wilson,et al.  ZFHX1B mutations in patients with Mowat‐Wilson syndrome , 2007, Human mutation.

[17]  J. Graham,et al.  Clinical features and management issues in Mowat–Wilson syndrome , 2006, American journal of medical genetics. Part A.

[18]  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.

[19]  D. Horn,et al.  Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype , 2006, American journal of medical genetics. Part A.

[20]  Meredith Wilson,et al.  Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation , 2005, American journal of medical genetics. Part A.

[21]  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.

[22]  I. Krantz,et al.  Clinical and mutational spectrum of Mowat-Wilson syndrome. , 2005, European journal of medical genetics.

[23]  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.

[24]  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.

[25]  E. Zackai,et al.  RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections , 2003, Journal of medical genetics.

[26]  Dian Donnai,et al.  Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B , 2003, American journal of medical genetics. Part A.

[27]  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.

[28]  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.

[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]  N. Nomura,et al.  Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease , 2001, Nature Genetics.

[31]  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.

[32]  I. Lurie,et al.  Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. , 1994, Genetic counseling.