about
'Saddle nose' deformity caused by advanced squamous cell carcinoma of the nasal septumA 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bullEpilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsGenetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.Construction of a cDNA library for miniature pig mandibular deciduous molarsClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndromeMowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiationAdvances in reprogramming-based study of neurologic disordersDual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system.Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection.Angelman syndrome (AS, MIM 105830)microRNA expression profiling and functional annotation analysis of their targets modulated by oxidative stress during embryonic heart development in diabetic mice.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Prenatal diagnosis by array-comparative genomic hybridization.Clinical utility gene card for: Mowat-Wilson syndromeHirschsprung's disease in children with Mowat-Wilson syndrome.Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses.Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.Smad-interacting protein 1 affects acute and tonic, but not chronic pain.Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome.ZEB2, a new candidate gene for asplenia.A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease.Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mowat-Wilson syndrome
@ast
Mowat-Wilson syndrome
@en
Mowat-Wilson syndrome
@en-gb
Mowat-Wilson syndrome
@nl
type
label
Mowat-Wilson syndrome
@ast
Mowat-Wilson syndrome
@en
Mowat-Wilson syndrome
@en-gb
Mowat-Wilson syndrome
@nl
prefLabel
Mowat-Wilson syndrome
@ast
Mowat-Wilson syndrome
@en
Mowat-Wilson syndrome
@en-gb
Mowat-Wilson syndrome
@nl
P2860
P921
P356
P1476
Mowat-Wilson syndrome
@en
P2093
Livia Garavelli
Paola Cerruti Mainardi
P2860
P2888
P356
10.1186/1750-1172-2-42
P407
P5008
P577
2007-10-24T00:00:00Z
P5875
P6179
1017107777