Hypotonia-Cystinuria Syndrome

Known as: Cystinuria with Mitochondrial Disease, HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY, Homozygous 2p21 Deletion Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2016
01220012016

Papers overview

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2017
2017
A new ovarian near-diploid cell line, OVDM1, was derived from a highly aneuploid serous ovarian metastatic adenocarcinoma. A… (More)
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2014
2014
Decreased tetrahydrobiopterin (BH4) biosynthesis has been implicated in the pathophysiology of anxiety and depression. The aim of… (More)
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2013
2013
Pathology archives contain vast resources of clinical material in the form of formalin-fixed paraffin-embedded (FFPE) tissue… (More)
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2013
2013
Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes… (More)
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2012
2012
BACKGROUND Maternal diabetes causes neural tube defects (NTDs) in the embryos via activating protein kinase Cs (PKCs), which… (More)
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2010
2010
UNLABELLED Recurrent cancer genome aberrations are indicators of residing crucial cancer genes. Although recent advances in… (More)
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2009
2009
Ovarian cancer is characterized by complex genetic alterations, including copy number loss and copy number-neutral loss of… (More)
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2006
2006
Mouse astrocytes deficient in the mitochondrial form of manganese superoxide dismutase (SOD2) do not survive in culture under… (More)
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2005
2005
OBJECTIVE To observe the alterations of the auditory function and morphology of the ear in the mouse sialidosis models which has… (More)
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2001
2001
p16(INK4A) inactivation was analyzed in ten squamous cell carcinoma (SCC) cell lines and 32 primary SCCs, using the polymerase… (More)
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