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chromosome 17p12
Known as:
17p12
A chromosome band present on 17p
National Institutes of Health
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Related topics
Related topics
3 relations
Chromosome 17 Short Arm
Chromosomes
Broader (1)
Chromosomes, Human
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease
Byung-Ok Choi
,
S. Koo
,
+10 authors
K. Chung
Human Mutation
2012
Corpus ID: 9101667
Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically…
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Highly Cited
2012
Highly Cited
2012
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
D. Grozeva
,
D. Conrad
,
+5 authors
G. Kirov
Schizophrenia Research
2012
Corpus ID: 18923273
Highly Cited
2010
Highly Cited
2010
Inherited genetic variant predisposes to aggressive but not indolent prostate cancer
Jianfeng Xu
,
S. Zheng
,
+17 authors
W. Isaacs
Proceedings of the National Academy of Sciences…
2010
Corpus ID: 5826497
Autopsy studies suggest that most aging men will develop lesions that, if detected clinically, would be diagnosed as prostate…
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Review
2007
Review
2007
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
D. Pareyson
,
V. Scaioli
,
M. Laurá
Neuromolecular medicine
2007
Corpus ID: 207393007
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype…
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Highly Cited
1999
Highly Cited
1999
Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.
R. Bank
,
S. Robins
,
+5 authors
J. Tekoppele
Proceedings of the National Academy of Sciences…
1999
Corpus ID: 27871852
Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile bones, and short stature. We report…
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Highly Cited
1999
Highly Cited
1999
Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection.
B. Peschka
,
J. Leygraaf
,
+5 authors
G. Schwanitz
Human Reproduction
1999
Corpus ID: 30921181
Cytogenetic investigations were performed in 781 couples prior to intracytoplasmic sperm injection (ICSI) because of severe male…
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Review
1997
Review
1997
Cytogenetic findings in 73 osteosarcoma specimens and a review of the literature.
J. Bridge
,
M. Nelson
,
+6 authors
J. Neff
Cancer Genetics and Cytogenetics
1997
Corpus ID: 32772041
Highly Cited
1997
Highly Cited
1997
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
L. G. Shaffer
,
Gilbert M. Kennedy
,
Aimee S. Spikes
,
J. R. Lupski
,
J. R. Lupski
American journal of medical genetics
1997
Corpus ID: 22341661
Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle…
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Highly Cited
1992
Highly Cited
1992
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis.
P. Cogen
,
Laleh Daneshvar
,
A. K. Metzger
,
G. Duyk
,
M. Edwards
,
V. Sheffield
American Journal of Human Genetics
1992
Corpus ID: 6976013
Loss of heterozygosity for sequences located on chromosome 17p in several tumor types is often associated with mutations in the…
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Highly Cited
1990
Highly Cited
1990
Localization of the human sex hormone-binding globulin gene (SHBG) to the short arm of chromosome 17 (17p12----p13).
D. Bérubé
,
Gilles-Eric Seralini
,
Richard Gagné
,
Geoffrey L. Hammond
Cytogenetics and Cell Genetics
1990
Corpus ID: 46826845
Human sex hormone-binding globulin (SHBG) is a plasma steroid transport protein which is known to be encoded by an autosomal gene…
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