scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1100166132 |
P356 | DOI | 10.1038/GIM.2017.221 |
P698 | PubMed publication ID | 29300384 |
P50 | author | Anita Rauch | Q21253643 |
Christiane Zweier | Q56753445 | ||
Magdalena Badura-Stronka | Q57074216 | ||
Anna Kutkowska-Kazmierczak | Q59661577 | ||
Rikke S Møller | Q61819699 | ||
Luiz Gonzaga Tone | Q67478540 | ||
Igor Prpić | Q71602426 | ||
Daniele De Brasi | Q73282985 | ||
Patrizia Accorsi | Q84965914 | ||
Robert Smigiel | Q87708946 | ||
Gioacchino Scarano | Q88731864 | ||
Goran Cuturilo | Q90776874 | ||
Chiara Pantaleoni | Q98625012 | ||
Ewa Obersztyn | Q116154537 | ||
Annick Toutain | Q30170329 | ||
Elvis Terci Valera | Q38545263 | ||
Krzysztof Szczałuba | Q38803523 | ||
Bert Callewaert | Q41702074 | ||
Olivera Djuric | Q47210544 | ||
Ivan Ivanovski | Q47210556 | ||
Francesca Mari | Q47338736 | ||
Paola Francesca Ajmone | Q55834925 | ||
P2093 | author name string | Martin Zenker | |
Alessandra Renieri | |||
Didier Lacombe | |||
Livia Garavelli | |||
Koenraad Devriendt | |||
Angelo Selicorni | |||
Francesca Faravelli | |||
Marcella Zollino | |||
Lorenzo Iughetti | |||
Stefano Giuseppe Caraffi | |||
Caterina Lo Rizzo | |||
Alessandro Pellicciari | |||
Baris Malbora | |||
Duccio Maria Cordelli | |||
Francesca Rivieri | |||
Giovanni Sorge | |||
Isabella Mammi | |||
Lucio Giordano | |||
Luigi Tarani | |||
Marina Grasso | |||
Nicoletta Zanotta | |||
Roberta Epifanio | |||
Salvatore Savasta | |||
Simonetta Rosato | |||
Emilia Ricci | |||
Agata Fiumara | |||
Sabine Grønborg | |||
Margaret P Adam | |||
Mary Beth Dinulos | |||
Luigina Spaccini | |||
Vladimir Kuburovic | |||
Stefania Bigoni | |||
Guido Cocchi | |||
Andrea Conidi | |||
Marzia Pollazzon | |||
Ebtesam Abdalla | |||
Maria Antonietta Pisanti | |||
Petra Muschke | |||
Ina Schanze | |||
Alessandro Iodice | |||
Allan Bayat | |||
Anna Luchetti | |||
Aurelien Trimouille | |||
Chiara Baldo | |||
Daniela Santodirocco | |||
Debora Formisano | |||
Federico Bonvicini | |||
Federico Raviglione | |||
Gijs W Santen | |||
Giulia Montorsi | |||
Jens Erik Klint Nielsen | |||
Jeroen Breckpot | |||
Maddalena Baldi | |||
Margherita Silengo | |||
Maria Luisa Poch-Olive | |||
Samantha Schrier Vergano | |||
Sebastien Moutton | |||
Tina Duelund Hjortshøj | |||
P2860 | cites work | Mowat-Wilson syndrome | Q21202963 |
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease | Q24291067 | ||
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 | Q24517956 | ||
?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 | Q56567267 | ||
The behavioral phenotype of Mowat-Wilson syndrome | Q60491439 | ||
Mowat-Wilson syndrome affecting 3 siblings | Q80576963 | ||
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene | Q82592160 | ||
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations | Q87642982 | ||
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features | Q24535880 | ||
A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition | Q24649050 | ||
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity | Q24675887 | ||
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome | Q24676454 | ||
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype | Q28283452 | ||
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients | Q31141777 | ||
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease | Q34083727 | ||
ZFHX1B mutations in patients with Mowat-Wilson syndrome | Q34597855 | ||
Hirschsprung's disease in children with Mowat-Wilson syndrome | Q38544230 | ||
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome | Q39184479 | ||
Smad-interacting protein 1 affects acute and tonic, but not chronic pain | Q41931806 | ||
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. | Q43073711 | ||
The prevalence and clinical impact of pulmonary artery sling on school-aged children: a large-scale screening study | Q44062173 | ||
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? | Q50866521 | ||
Clinical features and management issues in Mowat-Wilson syndrome. | Q51910142 | ||
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. | Q51917663 | ||
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. | Q51920452 | ||
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. | Q51927092 | ||
Clinical and mutational spectrum of Mowat-Wilson syndrome. | Q51927513 | ||
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. | Q51948432 | ||
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. | Q53534782 | ||
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. | Q54494715 | ||
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Mowat-Wilson syndrome | Q2757585 |
P304 | page(s) | 965-975 | |
P577 | publication date | 2018-01-04 | |
P1433 | published in | Genetics in Medicine | Q15765508 |
P1476 | title | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care | |
P478 | volume | 20 |
Q90305392 | Analysis of gene variants in the GASH/Sal model of epilepsy |
Q57640196 | Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome |
Q99575285 | Zeb2 regulates the balance between retinal interneurons and muller glia by inhibition of BMP-Smad signaling |
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