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21q22.1
A chromosome band present on 21q
National Institutes of Health
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Related topics
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4 relations
21q
CBR1 wt Allele
Chromosomes
IFNAR1 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome
G. Marucci
,
L. Morandi
,
+5 authors
M. Foschini
Neuromuscular Disorders
2007
Corpus ID: 25976907
Review
2005
Review
2005
Reflections on the pathogenesis of Down syndrome.
J. M. Opitz
,
J. M. Opitz
,
J. M. Opitz
,
Enid Gilbert-Barness
,
Enid Gilbert-Barness
American journal of medical genetics. Supplement
2005
Corpus ID: 38820864
Present efforts to identify, isolate, and characterize in molecular terms the "consensus" segment of 21q sufficient to cause most…
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1999
1999
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2
M. Guipponi
,
H. Scott
,
M. Hattori
,
K. Ishii
,
Y. Sakaki
,
S. Antonarakis
Cytogenetic and Genome Research
1999
Corpus ID: 27453719
The ubiquitously expressed and brain-specific human intersectin (ITSN) isoforms are scaffold proteins probably involved in…
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1998
1998
Localisation of receptor interacting protein140 (RIP140) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome
N. Katsanis
,
J. H. Ives
,
J. Groet
,
D. Nižetić
,
E. Fisher
Human Genetics
1998
Corpus ID: 1042332
Abstract Human chromosome21 is the smallest and one of the most intensively studied autosomes. The generation of high quality…
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1996
1996
The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene.
G. Berry
,
J. Mallee
,
J. Blouin
,
S. Antonarakis
Cytogenetics and Cell Genetics
1996
Corpus ID: 3328099
The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3) was recently cloned and localized to the region of 21q22…
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1995
1995
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1.
H. Chen
,
S. Antonarakis
Genomics
1995
Corpus ID: 38031143
Exon trapping was applied to genomic DNA from a chromosome 21-specific cosmid library (LL21NC02-Q) to clone portions of genes…
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1995
1995
Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22.
D. Theodoropoulos
,
J. Cowan
,
E. Elias
,
C. Cole
American journal of medical genetics
1995
Corpus ID: 44797672
Multiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1…
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1990
1990
Assignment of the human interferon-alpha receptor gene to chromosome 21q22.1 by in situ hybridization.
G. Lutfalla
,
N. Roeckel
,
K. Mogensen
,
M. Mattei
,
G. Uzé
Journal of Interferon Research
1990
Corpus ID: 10202361
The human interferon-alpha receptor gene (IFN AR) has been assigned to the long arm of human chromosome 21 (report of the…
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1987
1987
Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality
J. Huret
,
J. Delabar
,
+5 authors
P. Sinet
Human Genetics
1987
Corpus ID: 1591597
SummaryWe report the case of an 18-month-old boy with many typical Down syndrome features but a normal cytogenetic analysis. High…
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1987
1987
A boy with Down's syndrome having recombinant chromosome 21 but no SOD‐1 excess
K. Miyazaki
,
T. Yamanaka
,
N. Ogasawara
Clinical Genetics
1987
Corpus ID: 20996457
A 5‐year‐old boy with Down's syndrome of mild phenotype is described. Chromosome studies revealed that the karyotype of the…
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