(Q28283452)

Duccio Maria Cordelli

1

0 references

Salvatore Savasta

Salvatore Savasta

3

0 references

Emilio Franzoni

Emilio Franzoni

40

0 references

Marco Seri

Marco Seri

10

0 references

Francesca Mari

Francesca Mari

20

0 references

Livia Garavelli

Livia Garavelli

2

0 references

Chiara Pantaleoni

Chiara Pantaleoni

24

1 reference

ORCID Public Data File 2021

Azzurra Guerra

4

Azzurra Guerra

0 references

Lucio Giordano

6

Lucio Giordano

0 references

Antonella Boni

35

Antonella Boni

0 references

author name string

Alessandro Pellicciari

5

0 references

Silvia Bonetti

7

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Ilaria Cecconi

8

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Anita Wischmeijer

9

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Simonetta Rosato

11

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Chiara Gelmini

12

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Elvio Della Giustina

13

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Anna Rita Ferrari

14

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Nicoletta Zanotta

15

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Roberta Epifanio

16

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Daniele Grioni

17

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Baris Malbora

18

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Isabella Mammi

19

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Sabrina Buoni

21

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Rosa Mostardini

22

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Salvatore Grosso

23

0 references

Morena Doz

25

0 references

Maria Luisa Poch-Olivé

26

0 references

Francesca Rivieri

27

0 references

Giovanni Sorge

28

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Graziella Simonte

29

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Francesca Licata

30

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Luigi Tarani

31

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Emanuela Terazzi

32

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Paola Cerruti Mainardi

34

0 references

Francesca Faravelli

36

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Marina Grasso

37

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Paolo Bianchi

38

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Marcella Zollino

American Journal of Medical Genetics Part A

39

0 references

language of work or name

English

0 references

publication date

February 2013

0 references

published in

1 reference

Clinical features and management issues in Mowat-Wilson syndrome.

PubMed

volume

161A

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issue

2

0 references

page(s)

273-84

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Mowat-Wilson syndrome: an underdiagnosed syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

21 January 2018

Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Role of interictal epileptiform abnormalities in cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Callosal role in generation of epileptiform discharges: quantitative analysis of EEGs recorded in patients undergoing corpus callosotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

21 January 2018

Mowat-Wilson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

?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://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

Clinical and mutational spectrum of Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35717