(Q35559740)

English

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

scientific article published on July 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

0 references

author name string

Villard L

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Lévy N

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Xiang F

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Kpebe A

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Labelle V

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Chevillard C

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Zhang Z

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Schwartz CE

8

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Tardieu M

9

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Chelly J

10

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Anvret M

11

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Fontès M

12

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

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publication date

1 July 2001

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Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

8 August 2017

38

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

435-442

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Methyl-CpG-binding protein 2 mutations in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Two sisters with Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

27 July 2018

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

26 September 2018

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

26 September 2018

Review of Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757181

26 September 2018

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

1 reference

https://pubmed.ncbi.nlm.nih.gov/11432961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11432961

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.38.7.435

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

0 references

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