Vivienne Maloney
Overview
Explore the profile of Vivienne Maloney including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
4
Citations
104
Followers
0
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Related Specialty
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Top 10 Co-Authors
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Recent Articles
1.
Wilson H, Crolla J, Walker D, Artifoni L, Dallapiccola B, Takano T, et al.
Eur J Hum Genet
. 2008 Jun;
16(11):1301-10.
PMID: 18523453
The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although...
2.
Thomas N, Bryant V, Maloney V, Cockwell A, Jacobs P
Hum Genet
. 2008 May;
123(6):607-16.
PMID: 18470537
A significant proportion of both pericentric and paracentric inversions have recurrent breakpoints and so could either have arisen through multiple independent events or be identical by descent (IBD) with a...
3.
Benito-Sanz S, Gorbenko Del Blanco D, Huber C, Thomas N, Aza-Carmona M, Bunyan D, et al.
Am J Hum Genet
. 2006 Jul;
79(2):409-14.
PMID: 16826534
No abstract available.
4.
Benito-Sanz S, Thomas N, Huber C, Gorbenko Del Blanco D, Aza-Carmona M, Crolla J, et al.
Am J Hum Genet
. 2005 Sep;
77(4):533-44.
PMID: 16175500
Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "Madelung deformity." SHOX mutations resulting in SHOX...