Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients (Q31141777)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27831545%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients (English)

1 reference

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27 March 2020

main subject

neuroimaging

0 references

Mowat-Wilson syndrome

1 reference

15

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27 March 2020

Ivan Ivanovski

2

1 reference

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Stefano Giuseppe Caraffi

3

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Daniela Santodirocco

4

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Marzia Pollazzon

5

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Duccio M. Cordelli

6

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Patrizia Accorsi

8

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Margaret P Adam

9

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Chiara Baldo

10

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Elga Belligni

12

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Jeroen Breckpot

14

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Mary Beth Dinulos

19

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Olivera Djuric

20

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Roberta Epifanio

21

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Debora Formisano

23

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Marina Grasso

25

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Lorenzo Iughetti

28

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29

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32

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33

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Rikke S Møller

34

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Manuela Napoli

36

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38

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39

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41

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Francesca Rivieri

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Carmela Russo

43

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Gioacchino Scarano

45

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Giovanni Sorge

48

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Annick Toutain

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Elvis Terci Valera

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Samantha Schrier Vergano

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57

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ORCID Public Data File 2021

author name string

Ebtesam Abdalla

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Federico Bonvicini

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Guido Cocchi

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Goran Cuturilo

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Koenraad Devriendt

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Francesca Faravelli

22

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Lucio Giordano

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Sabine Grønborg

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Alessandro Iodice

27

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30

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Baris Malbora

31

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Angelo Selicorni

46

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Margherita Silengo

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Luigi Tarani

49

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Marcella Zollino

56

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Alex R Paciorkowski

58

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Livia Garavelli

1

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27 March 2020

language of work or name

English

0 references

publication date

10 November 2016

1 reference

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27 March 2020

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27 March 2020

volume

19

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27 March 2020

page(s)

691-700

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27 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27831545%20AND%20SRC:MED&resulttype=core&format=json

Sip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability

27 March 2020

cites work

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21 June 2018

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21 June 2018

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21 June 2018

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Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons

21 June 2018

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Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system

21 June 2018

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Clinical utility gene card for: Mowat-Wilson syndrome

21 June 2018

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Mowat-Wilson syndrome: the first two Malaysian cases

21 June 2018

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Complete reversal of epithelial to mesenchymal transition requires inhibition of both ZEB expression and the Rho pathway

21 June 2018

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21 June 2018

Mowat-Wilson syndrome

1 reference

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Smad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formation

21 June 2018

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ZFHX1B mutations in patients with Mowat-Wilson syndrome

21 June 2018

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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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

21 June 2018

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21 June 2018

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21 June 2018

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Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

21 June 2018

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21 June 2018

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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

21 June 2018

1 reference

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Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

21 January 2018

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Clinical and mutational spectrum of Mowat-Wilson syndrome.

21 January 2018

1 reference

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Clinical features and management issues in Mowat-Wilson syndrome.

21 January 2018

1 reference

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Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

21 January 2018

1 reference

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CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

21 January 2018

1 reference

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Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.

21 January 2018

1 reference

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Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

21 January 2018

1 reference

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Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

Directed migration of cortical interneurons depends on the cell-autonomous action of Sip1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

?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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5438871

The behavioral phenotype of Mowat-Wilson syndrome

25 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

inferred from DOI database lookup

7 January 2021

based on heuristic

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

inferred from DOI database lookup

7 January 2021

based on heuristic

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.176

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27831545%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 March 2020

0 references

1 reference

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27 March 2020

1 reference