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2p16.1
A chromosome band present on 2p
National Institutes of Health
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Related topics
Related topics
4 relations
BCL11A wt Allele
Chromosome 2 Short Arm
Chromosomes
FANCL wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma
D. Codipilly
,
R. Gavrilova
,
E. Tangalos
BMJ Case Reports
2017
Corpus ID: 9843627
Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients…
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2017
2017
Double Hit Lymphoma: a New Category of
N. Hamed
2017
Corpus ID: 212556025
The majority of DHLs originate from germinal centre cells [1]. DHL occurs de novo and in <10% of cases of DLBCL [2]. DHL occurs…
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2017
2017
Novel genes associated with isolated optic nerve hypoplasia in 6 family trios - a clinical and exome study
P. Bitoun
,
A. Auge
,
+6 authors
J. Deleuze
2017
Corpus ID: 79835140
Purpose Optic nerve hypoplasia (ONH) is a rare blinding malformation,ONH is often syndromic with MRI pituitary anomalies. We…
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2016
2016
Structural brain abnormalities associated with deletion at chromosome 2p16.1
Shimbo Hiroko
,
Yokoi Takayuki
,
+7 authors
Kurosawa Kenji
2016
Corpus ID: 158350898
2015
2015
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability
T. Kawarai
,
A. Tajima
,
+9 authors
R. Kaji
Journal of Neurology Neurosurgery & Psychiatry
2015
Corpus ID: 3538683
Background Hereditary cerebellar ataxia constitutes a heterogeneous group of neurodegenerative disorders, occasionally…
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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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2012
2012
Du chromosome au gène par un criblage global des altérations génomiques dans la malignité pour isoler de nouvelles cibles thérapeutiques
S. Toujani
2012
Corpus ID: 160540834
Le cancer est desormais considere comme une maladie genomique de la cellule. Les moyens d’etude de l’oncogenome etaient bases sur…
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Review
2011
Review
2011
Deletion 2 p 15 – 16 . 1 Syndrome : Case Report and Review
P. Prontera
,
L. Bernardini
,
+6 authors
E. Donti
2011
Corpus ID: 205314098
Deletion 2p15–16.1 Syndrome: Case Report and Review Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela…
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2011
2011
The effect of genetic polymorphisms in trans-acting factor genes as modulators of fetal hemoglobin level in sickle cell disease
A. Coelho
,
Armandina Miranda
,
E. Ferreira
,
P. Faustino
2011
Corpus ID: 81403275
CONCLUSIONS We genotyped (by PCR-RFLP) 110 SCA patients for the SNP rs11886868 located in intron 2 of the BCL11A gene (2p16.1…
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2009
2009
SNP-Arrays Provide New Insights Into the Pathogenesis of Post-Transplant Diffuse Large B-Cell Lymphoma (PT-DLBCL).
A. Rinaldi
,
D. Capello
,
+16 authors
F. Bertoni
2009
Corpus ID: 208400997
Abstract 444 Post transplant lymphoproliferative disorders (PTLD) are important complications of solid organ transplantation…
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