GRISCELLI SYNDROME, TYPE 2

Known as: Partial albinism and immunodeficiency, Griscelli syndrome type 2, PAID SYNDROME 
A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and… (More)
National Institutes of Health

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Topic mentions per year

1980-2016
051019802016

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Highly Cited
2012
Highly Cited
2012
Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation caused by defects in… (More)
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2011
2011
Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically… (More)
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2010
2010
Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of… (More)
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2009
2009
  • ARITHMETIC VARIETIES, SHOUWU ZHANG
  • 2009
Leading term of the Hilbert function. For an arithmetic variety X which we refer to as a projective and flat integral scheme over… (More)
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2008
2008
Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and is a rare and potentially fatal immune disorder… (More)
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2008
2008
Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency… (More)
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2008
2008
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases… (More)
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Highly Cited
2005
Highly Cited
2005
Adiponutrin and a related protein, adipocyte triglyceride lipase (ATGL; also known as Desnutrin), were recently described as… (More)
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2003
2003
Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human… (More)
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Highly Cited
1991
Highly Cited
1991
Changes in the levels of cytosolic glutamine synthetase (GS1) and chloroplastic glutamine synthetase (GS2) polypeptides and of… (More)
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