Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. (Q41554454)

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28 March 2020

title

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation (English)

1 reference

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28 March 2020

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4

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28 March 2020

author name string

Qingping Zhang

1

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28 March 2020

Jiaping Wang

2

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28 March 2020

Jiarui Li

3

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28 March 2020

Ying Zhao

5

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28 March 2020

Xiaoying Zhang

6

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28 March 2020

Liping Wei

7

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Xiru Wu

8

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language of work or name

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29 August 2017

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28 March 2020

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28 March 2020

volume

18

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issue

1

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page(s)

96

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The Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome.

28 March 2020

cites work

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Epilepsy and outcome in FOXG1-related disorders

6 June 2018

1 reference

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Calcium-sensing receptor silencing in colorectal cancer is associated with promoter hypermethylation and loss of acetylation on histone 3.

6 June 2018

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Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

6 June 2018

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Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

6 June 2018

1 reference

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6 June 2018

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Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome

6 June 2018

1 reference

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

6 June 2018

1 reference

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Rett syndrome: revised diagnostic criteria and nomenclature

6 June 2018

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

6 June 2018

1 reference

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Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

6 June 2018

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FOXG1 is responsible for the congenital variant of Rett syndrome

6 June 2018

1 reference

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

6 June 2018

1 reference

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

6 June 2018

1 reference

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Guidelines for reporting clinical features in cases with MECP2 mutations

6 June 2018

1 reference

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De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

6 June 2018

1 reference

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Human brain factor 1, a new member of the fork head gene family

6 June 2018

1 reference

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Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

6 June 2018

1 reference

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Rett syndrome: report of eight cases

6 June 2018

1 reference

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Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

6 June 2018

1 reference

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Somatic mosaicism for a FOXG1 mutation: diagnostic implication

19 August 2018

1 reference

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Molecular characteristics of Chinese patients with Rett syndrome.

19 August 2018

1 reference

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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

19 August 2018

1 reference

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Rett variants: a suggested model for inclusion criteria

19 August 2018

1 reference

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An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28851325

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-017-0455-Y

1 reference

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28 March 2020

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28 March 2020

PubMed publication ID

28851325

1 reference