(Q35197829)

7 August 2017

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome (English)

1 reference

7 August 2017

1 reference

Arveiler B

1

1 reference

7 August 2017

de Saint-Basile G

2

1 reference

7 August 2017

Fischer A

3

1 reference

7 August 2017

Griscelli C

4

1 reference

7 August 2017

Mandel JL

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 May 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

46

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7 August 2017

906-911

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7 August 2017

5

1 reference

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Achondroplasia: unexpected familial recurrence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Carrier detection in the Wiskott Aldrich syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Maternal duplication associated with gene deletion in sporadic hemophilia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Report of the committee on the genetic constitution of the X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Complete Correction of the Wiskott-Aldrich Syndrome by Allogeneic Bone-Marrow Transplantation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Strategies for multilocus linkage analysis in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Germline mosaicism and Duchenne muscular dystrophy mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683605

Clonal analysis using recombinant DNA probes from the X-chromosome

15 November 2018

1 reference

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

Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome

1 reference

12 December 2020

Primary immunodeficiency diseases. Report prepared for the WHO by a scientific group on immunodeficiency

1 reference

12 December 2020

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1 reference

12 December 2020

Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity

1 reference

12 December 2020

Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis

1 reference

12 December 2020

"Unstable premutation" in achondroplasia: penetrance vs phenotrance

1 reference

12 December 2020

Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

12 December 2020

Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers

1 reference

12 December 2020

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

1 reference

12 December 2020

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X and Y chromosomes

1 reference

12 December 2020

Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome

1 reference

12 December 2020

Identifiers

PMCID

1683605

1 reference

7 August 2017

1 reference