SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1

Known as: SGBS, Bulldog syndrome, Simpson dysmorphia syndrome 
A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2017
05101519742017

Papers overview

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2016
2016
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a… (More)
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2013
2013
Mutations in the gene encoding glypican (GPC) 3 appear to be responsible for most cases of Simpson-Golabi-Behmel syndrome type 1… (More)
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2012
2012
The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial… (More)
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Highly Cited
2008
Highly Cited
2008
Loss-of-function mutations in glypican-3 (GPC3), one of the six mammalian glypicans, causes the Simpson-Golabi-Behmel overgrowth… (More)
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2002
2002
The type 1 Simpson-Golabi-Behmel overgrowth syndrome (SGBS1) is caused by loss-of-function mutations of the X-linked GPC3 gene… (More)
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2000
2000
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which… (More)
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Highly Cited
1999
Highly Cited
1999
Glypicans are a family of heparan sulfate proteoglycans that are linked to the cell surface through a glycosyl… (More)
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Highly Cited
1998
Highly Cited
1998
OCI-5/GPC3 is a member of the glypican family. Glypicans are heparan sulfate proteoglycans that are bound to the cell surface… (More)
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Highly Cited
1997
Highly Cited
1997
In mice, the imprinted Igf2 gene (expressed from the paternal allele), which encodes a growth-promoting factor (IGF-II), is… (More)
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Highly Cited
1996
Highly Cited
1996
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and… (More)
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