Gordon C Gowans
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Explore the profile of Gordon C Gowans including associated specialties, affiliations and a list of published articles.
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Articles
11
Citations
830
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Recent Articles
1.
Thapa M, Asamoah A, Gowans G, Platky K, Barch M, Mouchrani P, et al.
Am J Med Genet A
. 2014 Jan;
164A(4):1069-74.
PMID: 24459084
Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has resulted in defining the 4q-associated phenotype. However, such...
2.
Girirajan S, Rosenfeld J, Coe B, Parikh S, Friedman N, Goldstein A, et al.
N Engl J Med
. 2012 Sep;
367(14):1321-31.
PMID: 22970919
Background: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. Methods:...
3.
Vanderver A, Tonduti D, Auerbach S, Schmidt J, Parikh S, Gowans G, et al.
Mol Genet Metab
. 2012 Jul;
107(1-2):229-33.
PMID: 22749184
Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health...
4.
Moles K, Gowans G, Gedela S, Beversdorf D, Yu A, Seaver L, et al.
Genet Med
. 2012 Jan;
14(5):508-14.
PMID: 22241097
Purpose: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb...
5.
Kayrouz I, Das B, Gowans G, Johnsrude C
J Pediatr
. 2010 Oct;
158(1):149-54.
PMID: 20888576
No abstract available.
6.
Pani A, Hobart H, Morris C, Mervis C, Bray-Ward P, Kimberley K, et al.
PLoS One
. 2010 Sep;
5(8):e12349.
PMID: 20824207
Background: Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions. Established genetic syndromes and visible chromosome abnormalities...
7.
Ballif B, Theisen A, Rosenfeld J, Traylor R, Gastier-Foster J, Lamb Thrush D, et al.
Am J Hum Genet
. 2010 Mar;
86(3):454-61.
PMID: 20206336
Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to...
8.
Girirajan S, Rosenfeld J, Cooper G, Antonacci F, Siswara P, Itsara A, et al.
Nat Genet
. 2010 Feb;
42(3):203-9.
PMID: 20154674
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls...
9.
Haj R, Jackson K, Torchia B, Shaffer L, Bejjani B, Gowans G, et al.
Mol Cytogenet
. 2009 Jan;
2:2.
PMID: 19128483
Background: Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light...
10.
Ballif B, Theisen A, Coppinger J, Gowans G, Hersh J, Madan-Khetarpal S, et al.
Mol Cytogenet
. 2008 May;
1:8.
PMID: 18471269
Background: Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the...