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17p11.2

A chromosome band present on 17p
National Institutes of Health

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18 relations
Chromosome 17 Short ArmChromosomesELAC2 wt AlleleFLCN wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2006
Review
2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of disorders and is the most common… 
2006
2006
Complex chromosomal rearrangements in patients with chronic myeloid leukemia.
Highly Cited
2003
Highly Cited
2003
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
A 1.4-Mb tandem duplication, including the gene for peripheral myelin protein 22 (PMP22) in chromosome 17p11.2-12 is responsible… 
Highly Cited
2001
Highly Cited
2001
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients.
Highly Cited
1996
Highly Cited
1996
Severe vincristine neuropathy in charcot‐marie‐tooth disease type 1A
A general predisposition for vincristine‐related neuropathy has been observed in persons with a family history of hereditary… 
Review
1996
Review
1996
Ophthalmic manifestations of Smith-Magenis syndrome.
1996
1996
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a… 
1996
1996
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?
J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in… 
Highly Cited
1995
Highly Cited
1995
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the… 
Highly Cited
1992
Highly Cited
1992
Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees
We have restudied two clinically typical Charcot-Marie-Tooth neuropathy type 1 (CMT1; also known as hereditary motor and sensory… 
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