FAQ

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

Related topics

Related topics

7 relations
Autosomal recessive inheritance

Broader (6)

Chromosome DeletionChromosomes, Human, Pair 21Craniofacial AbnormalitiesCystinuria
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Hypotonia-Cystinuria Syndrome
Mitochondrial Diseases
Autosomal recessive inheritance
Chromosome Deletion
Intellectual Disability
Craniofacial Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor
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
Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin.
Decreased tetrahydrobiopterin (BH4) biosynthesis has been implicated in the pathophysiology of anxiety and depression. The aim of… (More)
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2013
2013
Evaluating the repair of DNA derived from formalin-fixed paraffin-embedded tissues prior to genomic profiling by SNP–CGH analysis
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
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes… (More)
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2012
2012
The essential role of protein kinase Cδ in diabetes-induced neural tube defects.
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
Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma.
UNLABELLED Recurrent cancer genome aberrations are indicators of residing crucial cancer genes. Although recent advances in… (More)
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2009
2009
Are there any more ovarian tumor suppressor genes? A new perspective using ultra high-resolution copy number and loss of heterozygosity analysis.
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
Mild hypoxia promotes survival and proliferation of SOD2-deficient astrocytes via c-Myc activation.
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
[Morphological and functional alterations of ear in lysosomal neuraminidase gene deficient mouse].
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
High frequency of homozygous deletion and methylation of p16(INK4A) gene in oral squamous cell carcinomas.
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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