(Q35882358)

10 August 2017

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. (English)

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10 August 2017

Chediak-Higashi syndrome

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Barrat FJ

1

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10 August 2017

Auloge L

2

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10 August 2017

Pastural E

3

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10 August 2017

Lagelouse RD

4

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10 August 2017

Vilmer E

5

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10 August 2017

Cant AJ

6

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10 August 2017

Weissenbach J

7

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10 August 2017

Le Paslier D

8

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10 August 2017

Fischer A

9

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10 August 2017

de Saint Basile G

10

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10 August 2017

language of work or name

English

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publication date

1 September 1996

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American Journal of Human Genetics

10 August 2017

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10 August 2017

59

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10 August 2017

625-632

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10 August 2017

3

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Coat proteins and vesicle budding

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Faster sequential genetic linkage computations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Mechanisms of intracellular protein transport

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Rab GDP dissociation inhibitor: putting rab GTPases in the right place.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The "lazy" NK cells of Chediak-Higashi syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Chediak-Higashi gene in humans. I. Impairment of natural - killer function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The Chediak-Higashi syndrome: studies in four patients and a review of the literature

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Defective granulocyte chemotaxis in the Chediak-Higashi syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The Chediak-Higashi Syndrome and the Homologous Trait in Animals

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

Organelle transport along microtubules - the role of KIFs.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

In search of membrane receptors for microtubule-based motors - is kinectin a kinesin receptor?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The Rab Protein Family: Genetic Mapping of Six Rab Genes in the Mouse

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914920

The murine gamma-chain of the T cell receptor is closely linked to a spermatocyte specific histone gene and the beige coat color locus on chromosome 13

14 November 2018

1 reference

12 December 2020

The Chediak-Higashi syndrome: a possible lysosomal disease

1 reference

12 December 2020

SNAPs and NSF: general members of the fusion apparatus.

1 reference

12 December 2020

Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency

1 reference

12 December 2020

[The accelerated phase of Chediak-Higashi syndrome]

1 reference

12 December 2020

Chédiak and Higashi's Disease. Probable Identity of “A New Leucocytal Anomaly (Chédiak)” and “Congenital Gigantism of Peroxidase Granules (Higashi)”

1 reference

12 December 2020

A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci

1 reference

12 December 2020

Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes

1 reference

12 December 2020

Complementation analysis of Chediak-Higashi Syndrome: The same gene may be responsible for the defect in all patients and species

1 reference

12 December 2020

Rab GTPases in vesicular transport

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12 December 2020

Identifiers

1 reference

10 August 2017

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