Una Maye
Overview
Explore the profile of Una Maye including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
130
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0
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Recent Articles
1.
Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, et al.
Am J Med Genet A
. 2015 Jan;
167A(3):504-11.
PMID: 25572454
Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size...
2.
Beunders G, Voorhoeve E, Golzio C, Pardo L, Rosenfeld J, Talkowski M, et al.
Am J Hum Genet
. 2013 Jan;
92(2):210-20.
PMID: 23332918
Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnostic testing of 49,684 individuals, we...
3.
Li F, Shen Y, Kohler U, Sharkey F, Menon D, Coulleaux L, et al.
Eur J Med Genet
. 2010 Feb;
53(2):93-9.
PMID: 20132918
The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to identification of genetic alterations that can explain intellectual disability and /or...
4.
Armstrong R, Ellis I, Kightley C, Sethi V, McCarthy E, Maye U, et al.
Clin Dysmorphol
. 2006 Sep;
15(4):221-223.
PMID: 16957477
We report a mother and son with an interstitial deletion of chromosome 2: del(2)(p21p22.2). Both have mildly dysmorphic facial features and learning difficulties. This phenotype contrasts with two previously described...
5.
Fryer A, Ashworth M, Hawe J, Pilling D, Pauling M, Maye U
Clin Dysmorphol
. 2004 Dec;
14(1):49-50.
PMID: 15602096
A second case of tetrasomy 20p due to an additional isochromosome 20p is reported. This resulted in a spontaneous intrauterine death with multiple congenital abnormalities. In keeping with the previous...