(Q37333832)

19 August 2017

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure (English)

1 reference

19 August 2017

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1 reference

I P Meschede

1

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19 August 2017

T O Santos

2

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19 August 2017

T C Izidoro-Toledo

3

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19 August 2017

J Gurgel-Gianetti

4

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19 August 2017

E M Espreafico

5

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19 August 2017

language of work or name

English

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publication date

1 October 2008

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Brazilian Journal of Medical and Biological Research

19 August 2017

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19 August 2017

41

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19 August 2017

839-848

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19 August 2017

10

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A syndrome associating partial albinism and immunodeficiency

19 August 2017

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Myosins: tails (and heads) of functional diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

The melanosome as a model to study organelle motility in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

The roles of Rab27 and its effectors in the regulated secretory pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

When intracellular logistics fails--genetic defects in membrane trafficking.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Identification of an organelle receptor for myosin-Va

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Cloning, mapping and characterization of the human RAB27A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: report of identical twins with Griscelli disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli syndrome: description of a case with Rab27A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

Griscelli syndrome type 2: a rare and lethal disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2008001000002

10.1590/S0100-879X2008001000002

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference