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2p16.3
A chromosome band present on 2p
National Institutes of Health
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5 relations
Chromosome 2 Short Arm
Chromosomes
FBXO11 wt Allele
SLC3A1 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
CNVs in neurodevelopmental disorders
Chun-Ting Lee
,
W. Freed
,
D. Mash
OncoTarget
2015
Corpus ID: 1056725
Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than…
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2013
2013
[Genome-wide copy number scan in Chinese patients with premature ovarian failure].
Xiumei Zhen
,
Yi-Min Sun
,
J. Qiao
,
Rong Li
,
Li-na Wang
,
Ping Liu
Beijing da xue xue bao. Yi xue ban = Journal of…
2013
Corpus ID: 36915758
OBJECTIVE To investigate genetic causes in Chinese women with primary ovarian insufficiency (POI) for Genome-wide copy number…
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2012
2012
Integrative Genomic Analysis Reveals Extended Germline Homozygosity with Lung Cancer Risk in the PLCO Cohort
Mohammed S Orloff
,
Li Zhang
,
G. Bebek
,
C. Eng
PLoS ONE
2012
Corpus ID: 7818571
Susceptibility to common cancers is multigenic resulting from low-to-high penetrance predisposition-factors and environmental…
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2011
2011
Analysis of an extended chromosome locus 2p14–21 for replication of the 2p16.3 association with glaucoma susceptibility
Kyunglan Kim
,
Y. Yun
,
Sewon Kim
,
Jong-Sung Kim
,
Chang-Sik Kim
,
C. Kang
Molecular Vision
2011
Corpus ID: 1293232
Purpose Susceptibility to primary open-angle glaucoma (POAG) has recently associated with three intergenic single-nucleotide…
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2011
2011
A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism
Y. Soysal
,
J. Vermeesch
,
Nooshin Ardeshir Davani
,
K. Hekimler
,
N. Imirzalıoğlu
American Journal of Medical Genetics. Part A
2011
Corpus ID: 39159055
We present a 12‐year‐old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb…
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Review
2010
Review
2010
Association between chromosome 2p16.3 variants and glaucoma in populations of African descent
Yutao Liu
,
X. Qin
,
S. Schmidt
,
R. Allingham
,
M. Hauser
Proceedings of the National Academy of Sciences…
2010
Corpus ID: 13174803
Jiao et al. (1) recently reported significant association of three SNPs on chromosome 2p16.3 (rs12994401, rs10202118, and…
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2001
2001
Genetic events during the transformation of a tamoxifen-sensitive human breast cancer cell line into a drug-resistant clone.
R. Achuthan
,
S. Bell
,
+5 authors
V. Speirs
Cancer Genetics and Cytogenetics
2001
Corpus ID: 24439047
2000
2000
Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene.
R. Colombo
Genomics
2000
Corpus ID: 19953442
Cystinuria is an autosomal recessive disorder of the transepithelial transport of amino acids, clinically manifested by the…
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1996
1996
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
M. J. Calonge
,
M. Nadal
,
+7 authors
V. Nunes
Pediatric nephrology (Berlin, West)
1996
Corpus ID: 30605508
We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of…
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1995
1995
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
M. J. Calonge
,
M. Nadal
,
+7 authors
V. Nunes
Human Genetics
1995
Corpus ID: 60440459
We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of…
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