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SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)

Known as: SGBS2, Simpson-Golabi-Behmel Syndrome, Type 2 
National Institutes of Health

Related topics

Related topics

21 relations
Abnormality of the outer earBroad palmByzanthine arch palateCleft Palate
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Broader (2)

Genetic Diseases, X-LinkedMultiple congenital anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Functional Screening of Candidate Causal Genes for Insulin Resistance in Human Preadipocytes and Adipocytes
Supplemental Digital Content is available in the text. Rationale: Genome-wide association studies have identified genetic loci… 
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2016
2016
A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a… 
2016
2016
Pavement Management Systems: Opportunities to Improve the Current Frameworks
Pavement management systems have emerged as an effective tool for allocating resources for the maintenance and rehabilitation of… 
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2013
2013
P2-37-11 Postmortem MRI・部分的病理解剖にてSimpson-Golabi-Behmel syndromeと臨床診断しえた1例(Group 89 胎児・新生児の異常(症例)2,一般演題,公益社団法人日本産科婦人科学会第65回学術講演会)
Highly Cited
2012
Highly Cited
2012
Autophagy activity is up-regulated in adipose tissue of obese individuals and modulates proinflammatory cytokine expression.
Autophagy, an evolutionary conserved process aimed at recycling damaged organelles and protein aggregates in the cell, also… 
2007
2007
A Widely Used Retinoic Acid Receptor Antagonist Induces Peroxisome Proliferator-Activated Receptor-γ Activity
Nuclear receptors (NRs) are transcription factors whose activity is regulated by the binding of small lipophilic ligands… 
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2002
2002
横隔膜ヘルニアを来したSimpson-Golabi-Behmel症候群の1例
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