(Q56266848)

English

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

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scholarly article

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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 (English)

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craniosynostosis

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Mowat-Wilson syndrome

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based on heuristic

inferred from title

Donna M McDonald-McGinn

9

object named as

Donna M McDonald-McGinn

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Livia Garavelli

object named as

Livia Garavelli

22

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Salvatore Savasta

object named as

Salvatore Savasta

19

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object named as

Francesca Mari

15

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author name string

Tara L Wenger

1

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Margaret Harr

2

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Stefania Ricciardi

3

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Elizabeth Bhoj

4

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Avni Santani

5

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Margaret P Adam

6

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Sarah S Barnett

7

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Rebecca Ganetzky

8

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Domenica Battaglia

10

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Stefania Bigoni

11

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Angelo Selicorni

12

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Giovanni Sorge

13

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Matteo Della Monica

14

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Francesca Mari

15

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Elena Andreucci

16

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Silvia Romano

17

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Guido Cocchi

18

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Salvatore Savasta

19

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Baris Malbora

20

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Giuseppe Marangi

21

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Livia Garavelli

22

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Marcella Zollino

23

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Elaine H Zackai

24

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language of work or name

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publication date

October 2014

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American Journal of Medical Genetics

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164A

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10

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2557-66

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Clinical features and management issues in Mowat-Wilson syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome with craniosynostosis: a case report.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Expression of the SMADIP1 gene during early human development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome associated with craniosynostosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Tissue origins and interactions in the mammalian skull vault

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Neural crest origins of the neck and shoulder

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat-Wilson syndrome detected by using high resolution microarray

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

ZEB2, a new candidate gene for asplenia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

XSip1 neuralizing activity involves the co-repressor CtBP and occurs through BMP dependent and independent mechanisms.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

?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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Clinical and mutational spectrum of Mowat-Wilson syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36696

21 January 2018

Identifiers

10.1002/AJMG.A.36696

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