Selection against lethal alleles in females heterozygous for incontinentia pigmenti (Q35247308)

7 August 2017

Selection against lethal alleles in females heterozygous for incontinentia pigmenti (English)

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7 August 2017

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B R Migeon

1

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7 August 2017

J Axelman

2

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7 August 2017

S Jan de Beur

3

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7 August 2017

D Valle

4

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7 August 2017

G A Mitchell

5

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7 August 2017

K N Rosenbaum

6

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7 August 2017

language of work or name

English

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publication date

1 January 1989

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American Journal of Human Genetics

7 August 2017

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7 August 2017

44

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7 August 2017

1

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7 August 2017

100-106

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DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

7 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

X-linked dominant inherited diseases with lethality in hemizygous males

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for 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=1715454

Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X 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=1715454

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan 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=1715454

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan 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=1715454

Two cases of X/autosome translocation in females with incontinentia pigmenti.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Incomplete X chromosome dosage compensation in chorionic villi of human placenta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Differentiation of leukemia cells to polymorphonuclear leukocytes in patients with acute nonlymphocytic leukemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Carrier detection in X-linked agammaglobulinemia by analysis of 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=1715454

Incontinentia pigmenti. A world statistical 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=1715454

Letter: Half chromatid mutations may explain incontinentia pigmenti in males

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Selection and cell communication as determinants of female phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715454

Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

12 July 2018

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12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

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12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

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12 December 2020

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization

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12 December 2020

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria

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12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells

1 reference

12 December 2020

Incontinentia pigmenti: a chromosomal breakage syndrome

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12 December 2020

Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier

1 reference

12 December 2020

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection

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12 December 2020

Adrenoleukodystrophy: clinical and biochemical manifestations in carriers

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12 December 2020

Identifiers

PMCID

1715454

1 reference

7 August 2017

1 reference