(Q34328161)

1 August 2017

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title

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature (English)

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1 August 2017

0 references

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atypical Rett syndrome

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inferred from title

author name string

Francois Dominique Jacob

1

1 reference

1 August 2017

Vijay Ramaswamy

2

1 reference

1 August 2017

John Andersen

3

1 reference

1 August 2017

Francois V Bolduc

4

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1 August 2017

publication date

22 July 2009

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

12

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1 August 2017

page(s)

1577-1581

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FOXG1 is responsible for the congenital variant of Rett syndrome

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Foxg1 suppresses early cortical cell fate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Rett syndrome. Current status and new vistas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Rett syndrome: a surprising result of mutation in MECP2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Patterns of gene expression in the neural plate and neural tube subdivide the embryonic forebrain into transverse and longitudinal domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Rett syndrome: clinical peculiarities and biological mysteries

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

On a unusual brain atrophy syndrome in hyperammonemia in childhood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Rett syndrome: report of eight cases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Telencephalon-restricted expression of BF-1, a new member of the HNF-3/fork head gene family, in the developing rat brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987032

Rett variants: a suggested model for inclusion criteria.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.95

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.95

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.95

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.95

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.95

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19623215

12 December 2020

inferred from PubMed ID database lookup

Clinical delineation of Rett syndrome variants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19623215

12 December 2020

inferred from PubMed ID database lookup

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19623215

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2009.95

1 reference

1 August 2017

1 reference

1 August 2017

1 reference