Michael Marble
Overview
Explore the profile of Michael Marble including associated specialties, affiliations and a list of published articles.
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30
Citations
476
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Recent Articles
11.
Zambrano R, Marble M, Chalew S, Lilje C, Vargas A, Lacassie Y
Am J Med Genet A
. 2016 Nov;
173(2):565-567.
PMID: 27868344
No abstract available.
12.
Varma A, McBride L, Marble M, Tilton A
J Neurol Sci
. 2016 Oct;
370:201-210.
PMID: 27772759
Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and...
13.
Barber J, Rosenfeld J, Graham J, Kramer N, Lachlan K, Bateman M, et al.
Am J Med Genet A
. 2015 Jun;
167A(9):2052-64.
PMID: 26097203
The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five...
14.
Meaux T, Zeringue A, Mumphrey C, Barkemeyer B, Marble M
Clin Dysmorphol
. 2015 Feb;
24(3):122-4.
PMID: 25719425
No abstract available.
15.
Barber J, Rosenfeld J, Foulds N, Laird S, Bateman M, Thomas N, et al.
Am J Med Genet A
. 2013 Jan;
161A(3):487-500.
PMID: 23345203
The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another...
16.
Riviere J, van Bon B, Hoischen A, Kholmanskikh S, ORoak B, Gilissen C, et al.
Nat Genet
. 2012 Feb;
44(4):440-4, S1-2.
PMID: 22366783
Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role...
17.
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay
Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld J, Torchia B, et al.
Am J Med Genet A
. 2011 Nov;
155A(12):3110-5.
PMID: 22065534
Fragile X E (FRAXE) is an X-linked form of intellectual disability characterized by mild to moderate cognitive impairment, speech delay, hyperactivity, and autistic behavior. The folate-sensitive fragile site FRAXE is...
18.
Ballif B, Rosenfeld J, Traylor R, Theisen A, Bader P, Ladda R, et al.
Hum Genet
. 2011 Jul;
131(1):145-56.
PMID: 21800092
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies,...
19.
Sahoo T, Theisen A, Sanchez-Lara P, Marble M, Schweitzer D, Torchia B, et al.
Am J Med Genet A
. 2011 Jun;
155A(7):1646-53.
PMID: 21671386
Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as...
20.
McGoey R, Marble M
J Pediatr
. 2011 Mar;
158(6):1031-2.
PMID: 21429517
A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother...