Associated Papers
Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.
Ju Y et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.
Kablan A et al.
American Journal of Medical Genetics. Part A, 2025
A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.
Sarno F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Caraffi SG et al.
European Journal of Human Genetics : Ejhg, 2024
Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.
Lin LC et al.
Pediatrics and Neonatology, 2024
Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
St Peter C et al.
International Journal of Molecular Sciences, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome.
Wang H et al.
Heliyon, 2023
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.
Fu Y et al.
Frontiers in Genetics, 2022
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.
Wu L et al.
Frontiers in Genetics, 2022
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A et al.
Journal of Applied Genetics, 2021
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.
Ayyildiz Emecen D et al.
Molecular Syndromology, 2020
Mowat-Wilson syndrome in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2020
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.
Nosaki Y et al.
Epilepsy & Behavior Reports, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.
Zhao W et al.
Clinical and Experimental Medicine, 2018
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
Teraishi M et al.
Scientific Reports, 2017
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
Kilic E et al.
Journal of Child Neurology, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
Murray SB et al.
American Journal of Medical Genetics. Part A, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Bourchany A et al.
American Journal of Medical Genetics. Part A, 2015
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2014
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y et al.
American Journal of Medical Genetics. Part A, 2014
ZEB2, a new candidate gene for asplenia.
Pons L et al.
Orphanet Journal of Rare Diseases, 2014
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Tanteles GA et al.
Clinical Dysmorphology, 2014
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL et al.
Bmc Genetics, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Cordelli DM et al.
American Journal of Medical Genetics. Part A, 2013
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.
Breckpot J et al.
The Journal of Pediatrics, 2010
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.
Saunders CJ et al.
American Journal of Medical Genetics. Part A, 2009
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2009
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
Dastot-Le Moal F et al.
Human Mutation, 2007
Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.
Sasongko TH et al.
The Kobe Journal of Medical Sciences, 2007
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome.
Ishihara N et al.
Journal of Pediatric Surgery, 2005
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.
Garavelli L et al.
Hormone Research, 2005
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.
Gregory-Evans CY et al.
American Journal of Medical Genetics. Part A, 2004
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
Ishihara N et al.
Journal of Medical Genetics, 2004
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M et al.
American Journal of Medical Genetics. Part A, 2003
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 et al.
American Journal of Human Genetics, 2001
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
Wakamatsu N et al.
Nature Genetics, 2001
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C et al.
European Journal of Medical Genetics, 0