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21q22.11
A chromosome band present on 21q
National Institutes of Health
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6 relations
21q
Chromosomes
GART wt Allele
IFNGR2 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Клинико-генетический анализ синдрома Дауна у пациентов, зарегистрированных в монгольской ассоциации синдрома Дауна
Хэрлэн Понхоон
,
Монхтуяа Томорхуу
,
Ичинноров Дашцэрэн
,
Сарантуяа Жав
2019
Corpus ID: 202804787
Aim: to conduct a cytogenetic study using cryotyping, MLPA, FISH, to study the relationship of polymorphisms of theGATA1 gene in…
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2017
2017
Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy
P. Sleiman
,
Michael E. March
,
+7 authors
H. Hakonarson
Human Mutation
2017
Corpus ID: 12398236
Braddock–Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre–Robin sequence (PRS), and…
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Review
2017
Review
2017
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature
A. M. Malinverni
,
É. M. Yamashiro Coelho
,
+4 authors
M. I. Melaragno
Cytogenetic and Genome Research
2017
Corpus ID: 3399344
Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the…
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2015
2015
A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.
Li-sha Chen
,
D. Xue
,
+7 authors
D. Cao
Gene
2015
Corpus ID: 5238635
2013
2013
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden–walker syndrome
M. Carrascosa-Romero
,
J. Suela
,
+6 authors
M. Martínez‐Frías
American Journal of Medical Genetics. Part A
2013
Corpus ID: 21475269
We present a girl with the characteristic clinical picture associated with Marden–Walker syndrome (MWS; OMIM 248700), including…
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2013
2013
Inv 21 p 12 q 22 del 21 q 22 and intellectual disability
Renata Oliveira
,
A. Doria
,
+8 authors
C. P. Moura
2013
Corpus ID: 19651464
Abbreviations: Array CGH, array comparative genom number variants; DS, Down syndrome; FISH, fluoresce intellectual disability…
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2008
2008
Identification of TCP10L as primate-specific gene derived via segmental duplication and homodimerization of TCP10L through the leucine zipper motif
Zhaomin Zhong
,
J. Qiu
,
+6 authors
Long Yu
Molecular Biology Reports
2008
Corpus ID: 24446752
TCP10L, a transcriptional repression factor gene that was localized on human chromosome 21q22.11, was identified to be derived…
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2004
2004
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature
A. Weise
,
O. Rittinger
,
H. Starke
,
M. Ziegler
,
U. Claussen
,
T. Liehr
Cytogenetic and Genome Research
2004
Corpus ID: 43692129
We report on a moderately mentally retarded 12-year-old boy of short stature showing the most complex chromosomal rearrangement…
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2003
2003
Identification of a novel liver-specific expressed gene, TCP10L, encoding a human leucine zipper protein with transcription inhibition activity
Zheng Chen
,
Long Yu
,
+6 authors
Shouyuan Zhao
Journal of Human Genetics
2003
Corpus ID: 20848859
AbstractThe incidence of hepatoma is high in the Chinese population. Searching for genes involved in the functions of the liver…
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