(Q35248996)

7 August 2017

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

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7 August 2017

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Pegoraro E

1

1 reference

7 August 2017

Whitaker J

2

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7 August 2017

Mowery-Rushton P

3

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7 August 2017

Surti U

4

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7 August 2017

Lanasa M

5

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7 August 2017

Hoffman EP

6

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7 August 2017

language of work or name

English

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publication date

1 July 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

160-170

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7 August 2017

1

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SPONTANEOUS ABORTION RISKS IN MAN: DATA FROM REPRODUCTIVE HISTORIES COLLECTED IN A MEDICAL GENETICS UNIT

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

A compositional map of human chromosome band Xq28

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

YAC contig organization and CpG island analysis in Xq28.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Molecular etiology of factor VIII deficiency in hemophilia A.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Xce haplotypes show modified methylation in a region of the active X chromosome lying 3' to Xist

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Mammalian X-chromosome inactivation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

A new syndrome with mental retardation, short stature and an Xq duplication.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Do twin Lyons have larger spots?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Recurrent miscarriage. II: Clinical associations, causes, and management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Human papillomaviruses in normal oral mucosa: a comparison of methods for sample collection

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

Strategies for multilocus linkage analysis in humans

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715880

A rippling muscle disease gene is localized to 1q41: evidence for multiple genes

26 September 2018

1 reference

12 December 2020

Primary non-random X-inactivation caused by controlling elements in the mouse demonstrated at the cellular level

1 reference

12 December 2020

Controlling elements in the mouse X-chromosome. II. Location in the linkage map

1 reference

12 December 2020

The frequency of spontaneous abortion

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12 December 2020

X-autosome translocations: cytogenetic characteristics and their consequences

1 reference

12 December 2020

Controlling elements in the mouse: IV. Evidence of non-randomX-inactivation

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12 December 2020

Mapping the murine Xce locus with (CA)n repeats

1 reference

12 December 2020

Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse

1 reference

12 December 2020

Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts

1 reference

12 December 2020

A 2D crossover-based map of the human X chromosome as a model for map integration

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

1 reference

12 December 2020

Controlling elements in the mouse X-chromosome. I. Interaction with the X-linked genes

1 reference

12 December 2020

Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells

1 reference

12 December 2020

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Genetic counseling of isolated carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1086/513901

1 reference

7 August 2017

1 reference

7 August 2017

1 reference