Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency (Q35195669)

7 August 2017

title

Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency (English)

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7 August 2017

A L Jørgensen

1

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7 August 2017

J Philip

2

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7 August 2017

W H Raskind

3

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7 August 2017

M Matsushita

4

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7 August 2017

B Christensen

5

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7 August 2017

V Dreyer

6

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7 August 2017

A G Motulsky

7

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7 August 2017

language of work or name

English

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publication date

1 August 1992

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

51

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7 August 2017

issue

2

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7 August 2017

page(s)

291-298

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The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker

7 August 2017

cites work

1 reference

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Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation

13 July 2018

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Mammalian X-chromosome inactivation

13 July 2018

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Inheritance of quantitative expression of erythrocyte glucose-6-phosphate dehydrogenase activity in the negro--a twin study

13 July 2018

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Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

13 July 2018

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Colour vision deficiency in one of two presumably monozy?otic twins with secondary amenorrhoea

13 July 2018

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Christmas disease in one of a pair of monozygotic twin girls, possibly the effect of lyonization

13 July 2018

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Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

13 July 2018

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Molecular genetics of inherited variation in human color vision

13 July 2018

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Discordance in a pair of identical twin carriers of factor IX deficiency

13 July 2018

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The molecular basis of severe hemophilia B in a girl

13 July 2018

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Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase

13 July 2018

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Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

13 July 2018

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Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255].

13 July 2018

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Duchenne muscular dystrophy in one of monozygotic twin girls

13 July 2018

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Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

13 July 2018

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Spondyloepiphyseal dysplasia tarda in Turner syndrome

13 July 2018

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Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

13 July 2018

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Molecular genetics of X chromosome-linked color vision among populations of African and Japanese ancestry: high frequency of a shortened red pigment gene among Afro-Americans

13 July 2018

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A highly informative X-chromosome probe, M27 beta, can be used for the determination of tumour clonality

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682669

Do twin Lyons have larger spots?

13 July 2018

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Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

13 July 2018

1 reference

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5-Azacytidine-induced reactivation of the human X chromosome-linked PGK1 gene is associated with a large region of cytosine demethylation in the 5' CpG island

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682669

Christmas Disease in a Girl

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682669

Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682669

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682669

Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus

15 November 2018

1 reference

12 December 2020

The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins

1 reference

12 December 2020

Molecular heterogeneity of translocations associated with muscular dystrophy

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12 December 2020

Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy

1 reference

12 December 2020

Anomalous X chromosome inactivation: the link between female zygotes, monozygotic twinning, and neural tube defects?

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins

1 reference

12 December 2020

Evidence for reduced colour vision in carriers of congenital colour vision deficiencies (author's transl)

1 reference

12 December 2020

Variable X-chromosome DNA methylation patterns detected with probe M27 beta in a series of lymphoid and myeloid malignancies

1 reference

12 December 2020

Identifiers

PMC publication ID

1682669

1 reference

7 August 2017

1 reference