17p11.2

A chromosome band present on 17p
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series… (More)
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Highly Cited
2006
Highly Cited
2006
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies… (More)
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2005
2005
BACKGROUND Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural… (More)
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Highly Cited
2002
Highly Cited
2002
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and… (More)
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Highly Cited
2001
Highly Cited
2001
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has… (More)
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Highly Cited
2000
Highly Cited
2000
Recombination between repeated sequences at various loci of the human genome are known to give rise to DNA rearrangements… (More)
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Highly Cited
1998
Highly Cited
1998
To distinguish continuous from discontinuous evolutionary change, a relation of nearness between phenotypes is needed. Such a… (More)
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Highly Cited
1997
Highly Cited
1997
Clinical and electrophysiological investigations and nerve biopsies were carried out on 61 patients shown to have a chromosome… (More)
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Highly Cited
1997
Highly Cited
1997
A clinical and electrophysiological study was performed in 119 Type 1A Charcot-Marie-Tooth disease (CMT1A) patients with proven… (More)
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Highly Cited
1992
Highly Cited
1992
Charcot–Marie–Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on… (More)
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