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Hypotonia-Cystinuria Syndrome

Known as: CYSTINURIA WITH MITOCHONDRIAL DISEASE, HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY, Homozygous 2p21 Deletion Syndrome 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal recessive inheritance

Broader (6)

Chromosome DeletionChromosomes, Human, Pair 21Craniofacial AbnormalitiesCystinuria

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… 
2016
2016
Differences in strength-duration curves of electrical diagnosis by physiotherapists between DJ-1 homozygous knockout and wild-type mice: a randomized controlled pilot trial
[Purpose] Strength-duration (SD) curves are used in electrical diagnosis by physiotherapists to confirm muscle degeneration… 
2015
2015
Transflip mutations produce deletions in pancreatic cancer
Pancreatic ductal adenocarcinoma (PDAC) is driven by the inactivation of the tumor suppressor genes (TSGs), CDKN2A (P16) and… 
2010
2010
AMY2A: a possible tumor-suppressor gene of 1p21.1 loss in gastric carcinoma.
Homozygous deletions (HDs) are major genomic forces contributing to the development of many solid tumors. To identify critical… 
2005
2005
The Fragile Histidine Triad Gene: A Molecular Link Between Cigarette Smoking and Cervical Cancer
Purpose: Smoking is an epidemiologic risk factor for cervical cancer. The fragile histidine triad (FHIT) gene is a tumor… 
2002
2002
Genetic alterations of INK4alpha/ARF locus and p53 in human hepatocellular carcinoma.
The INK4alpha/ARF locus encodes p14(ARF) and p16(INK4alpha) , that function to arrest the cell cycle through the p53 and RB… 
2001
2001
Homozygous deletions on the short arm of chromosome 3 in human oral squamous cell carcinomas.
1999
1999
Mutations in the gene encoding the alpha-subunit of the Gs protein in molar pregnancy.
Molar pregnancy is a gestational trophoblastic disease associated with a trophoblastic proliferation and a protein synthesis… 
1999
1999
Mutations in the gene encoding the α-subunit of the Gs protein in molar pregnancy
Molar pregnancy is a gestational trophoblastic disease associated with a trophoblastic proliferation and a protein synthesis… 
Review
1983
Review
1983
Presumed homozygous achondroplasia. A review and report of a further case.
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