J C K Barber
Overview
Explore the profile of J C K Barber including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
11
Citations
197
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Barber J, Rodrigues R, Maloney V, Taborda F, do C Rodrigues M, Bateman M
Cytogenet Genome Res
. 2013 May;
141(1):64-9.
PMID: 23651944
Microscopically visible copy number variations within the proximal short arm heterochromatin and proximal long arm of chromosome 9 have been described as euchromatic variants (EVs) and are derived from extensive...
2.
Barber J, Brasch-Andersen C, Maloney V, Huang S, Bateman M, Graakjaer J, et al.
Cytogenet Genome Res
. 2012 Oct;
139(1):59-64.
PMID: 23038475
An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth...
3.
4.
Barber J, Cockwell A, Grant E, Williams S, Dunn R, Ogilvie C
BJOG
. 2010 May;
117(7):885-8.
PMID: 20482539
Karyotyping couples that have had recurrent miscarriages detects balanced rearrangements in carrier parents who can be offered prenatal cytogenetic analysis to prevent the birth of a subsequent child with an...
5.
Ozgen H, van Daalen E, Bolton P, Maloney V, Huang S, Cresswell L, et al.
Clin Genet
. 2009 Oct;
76(4):348-56.
PMID: 19793310
Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications...
6.
Mercer C, Browne C, Barber J, Maloney V, Huang S, Thomas N, et al.
Cytogenet Genome Res
. 2009 May;
124(2):179-86.
PMID: 19420931
We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of...
7.
Barber J, Zhang S, Friend N, Collins A, Maloney V, Hastings R, et al.
Cytogenet Genome Res
. 2006 Sep;
114(3-4):351-8.
PMID: 16954678
Extra euchromatic material was found within the major heterochromatic block of chromosome 16 (16qh) in one de novo case and seven members of two families. In contrast to the euchromatic...
8.
Barber J
J Med Genet
. 2005 Aug;
42(8):609-29.
PMID: 16061560
In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into...
9.
Hollox E, Armour J, Barber J
Am J Hum Genet
. 2003 Aug;
73(3):591-600.
PMID: 12916016
Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band 8p23.1, a region that is frequently...
10.
Bower K, Dennis N, Wellesley D, Williams C, Hodgkins P, Tyreman C, et al.
Am J Med Genet A
. 2003 Feb;
117A(2):200-1.
PMID: 12567426
No abstract available.