(Q35249570)

7 August 2017

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. (English)

1 reference

7 August 2017

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5

H Y Zoghbi

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author name string

N C Schanen

1

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7 August 2017

E J Dahle

2

1 reference

7 August 2017

F Capozzoli

3

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7 August 2017

V A Holm

4

1 reference

7 August 2017

U Francke

6

1 reference

7 August 2017

language of work or name

English

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publication date

1 September 1997

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American Journal of Human Genetics

7 August 2017

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7 August 2017

61

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7 August 2017

634-641

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7 August 2017

3

1 reference

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Heritability of X chromosome--inactivation phenotype in a large family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

On a unusual brain atrophy syndrome in hyperammonemia in childhood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

A set of monozygotic twins with Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

The Rett syndrome: genetics and the future

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Genetic aspects of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Patterns of X chromosome inactivation in the Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Difference in early development of presumed monozygotic twins with Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

A second-generation linkage map of the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Mother and daughter with Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

X‐inactivation in girls with Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715972

Familial occurrence of Duchenne dystrophy through paternal lines in four families

12 July 2018

1 reference

12 December 2020

Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome

1 reference

12 December 2020

X inactivation in Rett syndrome: a preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe

1 reference

12 December 2020

Rett syndrome: random X chromosome inactivation

1 reference

12 December 2020

Alterations in replication timing of X-chromosome bands in Rett syndrome

1 reference

12 December 2020

X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe

1 reference

12 December 2020

Mitochondrial alterations in Rett syndrome

1 reference

12 December 2020

Another model for the inheritance of Rett syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/515525

1 reference

7 August 2017

1 reference

7 August 2017

1 reference