(Q44041850)

29 November 2017

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

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genotype-phenotype correlation

29 November 2017

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6

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Geneviève de Saint Basile

29 November 2017

9

object named as

Geneviève de Saint Basile

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Ozden Sanal

1

object named as

Ozden Sanal

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29 November 2017

3

Ilhan Tezcan

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29 November 2017

Fúgen Ersoy

2

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29 November 2017

Ayşe Metin

4

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29 November 2017

Leman Yel

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29 November 2017

Aytemiz Gürgey

7

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29 November 2017

Izzet Berkel

8

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29 November 2017

1 July 2002

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Journal of Clinical Immunology

29 November 2017

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29 November 2017

22

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29 November 2017

237-243

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29 November 2017

4

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https://scigraph.springernature.com/pub.10.1023/a:1016045026204

29 November 2017

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cites work

A kindred with Griscelli disease: spectrum of neurological involvement

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12 December 2020

Effective control of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis with immunochemotherapy. Histiocyte Society

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12 December 2020

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease

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12 December 2020

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

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12 December 2020

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

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12 December 2020

Partial albinism with immunodeficiency (Griscelli syndrome)

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12 December 2020

Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature

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12 December 2020

Griscelli syndrome: report of three cases

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12 December 2020

Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement

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12 December 2020

Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

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12 December 2020

Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency

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12 December 2020

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

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12 December 2020

Griscelli's syndrome: clinical features of three siblings.

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12 December 2020

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

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12 December 2020

Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations

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12 December 2020

Rab27a: A key to melanosome transport in human melanocytes

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12 December 2020

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

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12 December 2020

High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement

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12 December 2020

A syndrome associating partial albinism and immunodeficiency

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12 December 2020

Griscelli disease with cerebral involvement

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1023/A:1016045026204

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Dimensions Publication ID

29 November 2017

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