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Chromosomes, Human, Pair 22
Known as:
22s chromosome
, 22 chromosome
, chromosome pair 22
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The designation for each member of the smallest human autosomal chromosome pair. Chromosome 22 spans about 49 million base pairs and represents…
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National Institutes of Health
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Related topics
Related topics
21 relations
22q
Chromatin
Chromosome 22 Short Arm
Loss of Chromosome 22q
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Narrower (7)
22q13.3 Deletion Syndrome
Cat eye syndrome
Chromosome 22, microdeletion 22 q11
Chromosome 22, monosome mosaic
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Broader (1)
Chromosomes, Human, 21-22 and Y
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Immunohistochemical Analysis of hSNF5/INI1 in Pediatric CNS Neoplasms
A. Judkins
,
J. Mauger
,
As Ht
,
L. Rorke
,
J. Biegel
American Journal of Surgical Pathology
2004
Corpus ID: 42475997
Atypical teratoid/rhabdoid tumor (AT/RT) may be misdiagnosed as primitive neuroectodermal tumor/medulloblastoma (PNET) and…
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Highly Cited
2002
Highly Cited
2002
A first-generation linkage disequilibrium map of human chromosome 22
E. Dawson
,
G. Abecasis
,
+26 authors
I. Dunham
Nature
2002
Corpus ID: 176142
DNA sequence variants in specific genes or regions of the human genome are responsible for a variety of phenotypes such as…
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Highly Cited
2002
Highly Cited
2002
Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors.
J. Biegel
,
Lu Tan
,
Fan Zhang
,
L. Wainwright
,
P. Russo
,
L. Rorke
Clinical Cancer Research
2002
Corpus ID: 8210372
Germ-line and acquired mutations of the hSNF5/INI1 tumor suppressor gene have been reported in central nervous system (CNS…
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Highly Cited
2000
Highly Cited
2000
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
T. Shaikh
,
Hiroki Kurahashi
,
+8 authors
B. Emanuel
Human Molecular Genetics
2000
Corpus ID: 25788830
The 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most common…
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Highly Cited
1999
Highly Cited
1999
Sequence variation in the human angiotensin converting enzyme
M. Rieder
,
Scott L. Taylor
,
A. Clark
,
D. Nickerson
Nature Genetics
1999
Corpus ID: 22068426
Angiotensin converting enzyme (encoded by the gene DCP1, also known as ACE) catalyses the conversion of angiotensin I to the…
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Highly Cited
1990
Highly Cited
1990
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis.
A. Menon
,
K. Anderson
,
+7 authors
Fugen Li
Proceedings of the National Academy of Sciences…
1990
Corpus ID: 36956149
von Recklinghausen neurofibromatosis (NF1) is a common hereditary disorder characterized by neural crest-derived tumors…
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Highly Cited
1987
Highly Cited
1987
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
G. Rouleau
,
W. Wertelecki
,
+7 authors
J. Gusella
Nature
1987
Corpus ID: 4360833
Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of…
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Highly Cited
1987
Highly Cited
1987
Unique fusion of bcr and c-abl genes in Philadelphia chromosome positive acute lymphoblastic leukemia
A. Hermans
,
N. Heisterkamp
,
+7 authors
G. Grosveld
Cell
1987
Corpus ID: 16186568
Highly Cited
1987
Highly Cited
1987
In vitro transformation of immature hematopoietic cells by the P210 BCR/ABL oncogene product of the Philadelphia chromosome.
J. McLaughlin
,
E. Chianese
,
O. Witte
Proceedings of the National Academy of Sciences…
1987
Corpus ID: 21797997
The Philadelphia chromosome [t(9;22)-(q34;q11)] is the cytogenetic hallmark of human chronic myelogenous leukemia. RNA splicing…
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Highly Cited
1986
Highly Cited
1986
Alternative splicing of RNAs transcribed from the human abl gene and from the bcr-abl fused gene
E. Shtivelman
,
Batia Lifshitz
,
R. Gale
,
B. Roe
,
E. Canaani
Cell
1986
Corpus ID: 36324337
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