Mary E Carlin
Overview
Explore the profile of Mary E Carlin including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
2
Citations
51
Followers
0
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Recent Articles
1.
Peddibhotla S, Nagamani S, Erez A, Hunter J, Lloyd Holder Jr J, Carlin M, et al.
Eur J Hum Genet
. 2014 Apr;
23(1):54-60.
PMID: 24736736
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that...
2.
Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang S, Carlin M, et al.
Am J Med Genet A
. 2010 Oct;
152A(11):2854-60.
PMID: 20979191
Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations...