(Q59548366)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

title

Partial albinism with immunodeficiency (Griscelli syndrome) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference

1 reference

6

1 reference

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30 October 2019

author name string

C Klein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

N Philippe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

F Le Deist

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

S Fraitag

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

C Prost

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

A Fischer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

C Griscelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

language of work or name

English

0 references

publication date

1 December 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

30 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

volume

125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

issue

6 Pt 1

1 reference

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30 October 2019

page(s)

886-895

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

A syndrome associating partial albinism and immunodeficiency

30 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Partial albinism and immunodeficiency: ultrastructural study of haemophagocytosis and bone marrow erythroblasts in one case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Griscelli disease with cerebral involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

A kindred with Griscelli disease: spectrum of neurological involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Natural killer and killer cell activities in patients with primary immunodeficiencies or defects in immune interferon production

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers

7 January 2021

1 reference

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CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY

7 January 2021

1 reference

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Virus-associated hemophagocytic syndromeA benign histiocytic proliferation distinct from malignant histiocytosis

7 January 2021

1 reference

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Epstein-Barr virus-associated hemophagocytic syndrome: clinical presentation and treatment

7 January 2021

1 reference

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The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Deficient Natural Killer Cell Activity in X-Linked Lymphoproliferative Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Severe herpesvirus infections in an adolescent without natural killer cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

A new oculocerebral syndrome with hypopigmentation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

Novel myosin heavy chain encoded by murine dilute coat colour locus

7 January 2021

1 reference

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Haemophagocytic syndrome treated with cyclosporin A: a T cell disorder?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982003-7

10.1016/S0022-3476(05)82003-7

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7996360%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference