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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
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Related topics
Related topics
7 relations
Autosomal recessive inheritance
Broader (6)
Chromosome Deletion
Chromosomes, Human, Pair 21
Craniofacial Abnormalities
Cystinuria
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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
E. Rozenblum
,
J. Sotelo-Silveira
,
+11 authors
A. Roschke
PLoS ONE
2017
Corpus ID: 22816136
A new ovarian near-diploid cell line, OVDM1, was derived from a highly aneuploid serous ovarian metastatic adenocarcinoma. A…
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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
Ju-hyun Kim
,
Won-Deok Lee
,
+11 authors
Junghwan Kim
Journal of Physical Therapy Science
2016
Corpus ID: 15837122
[Purpose] Strength-duration (SD) curves are used in electrical diagnosis by physiotherapists to confirm muscle degeneration…
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2015
2015
Transflip mutations produce deletions in pancreatic cancer
A. Norris
,
H. Kamiyama
,
+10 authors
J. Eshleman
Genes, Chromosomes and Cancer
2015
Corpus ID: 11861184
Pancreatic ductal adenocarcinoma (PDAC) is driven by the inactivation of the tumor suppressor genes (TSGs), CDKN2A (P16) and…
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2010
2010
AMY2A: a possible tumor-suppressor gene of 1p21.1 loss in gastric carcinoma.
J. Kang
,
S. Koo
,
K. Kwon
,
Jong Woo Park
International Journal of Oncology
2010
Corpus ID: 12309217
Homozygous deletions (HDs) are major genomic forces contributing to the development of many solid tumors. To identify critical…
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2005
2005
The Fragile Histidine Triad Gene: A Molecular Link Between Cigarette Smoking and Cervical Cancer
C. Holschneider
,
R. L. Baldwin
,
Kiranjeet K. Tumber
,
C. Aoyama
,
B. Karlan
Clinical Cancer Research
2005
Corpus ID: 20925031
Purpose: Smoking is an epidemiologic risk factor for cervical cancer. The fragile histidine triad (FHIT) gene is a tumor…
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2002
2002
Genetic alterations of INK4alpha/ARF locus and p53 in human hepatocellular carcinoma.
C. Peng
,
Tse-Ching Chen
,
+5 authors
Y. Liaw
Anticancer Research
2002
Corpus ID: 22799308
The INK4alpha/ARF locus encodes p14(ARF) and p16(INK4alpha) , that function to arrest the cell cycle through the p53 and RB…
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2001
2001
Homozygous deletions on the short arm of chromosome 3 in human oral squamous cell carcinomas.
N. Uzawa
,
D. Akanuma
,
+4 authors
M. Yoshida
Oral Oncology
2001
Corpus ID: 31900883
1999
1999
Mutations in the gene encoding the alpha-subunit of the Gs protein in molar pregnancy.
G. Garon
,
J. Lehoux
,
P. Bessette
Endocrine
1999
Corpus ID: 20688052
Molar pregnancy is a gestational trophoblastic disease associated with a trophoblastic proliferation and a protein synthesis…
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1999
1999
Mutations in the gene encoding the α-subunit of the Gs protein in molar pregnancy
G. Garon
,
J. Lehoux
,
P. Bessette
Endocrine
1999
Corpus ID: 46976586
Molar pregnancy is a gestational trophoblastic disease associated with a trophoblastic proliferation and a protein synthesis…
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Review
1983
Review
1983
Presumed homozygous achondroplasia. A review and report of a further case.
K. Aterman
,
J. Welch
,
P. G. Taylor
Pathology, Research and Practice
1983
Corpus ID: 20350101
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