Cynthia J R Curry
Overview
Explore the profile of Cynthia J R Curry including associated specialties, affiliations and a list of published articles.
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10
Citations
275
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Recent Articles
1.
Laine C, Joeng K, Campeau P, Kiviranta R, Tarkkonen K, Grover M, et al.
N Engl J Med
. 2013 May;
368(19):1809-16.
PMID: 23656646
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly)....
2.
Tully H, Dempsey J, Ishak G, Adam M, Curry C, Sanchez-Lara P, et al.
Am J Med Genet A
. 2012 Sep;
158A(10):2393-406.
PMID: 22965664
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with...
3.
Kauvar E, Solomon B, Curry C, van Essen A, Janssen N, Dutra A, et al.
Am J Med Genet C Semin Med Genet
. 2010 Jan;
154C(1):158-69.
PMID: 20104613
Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a...
4.
Carey J, Cohen Jr M, Curry C, Devriendt K, Holmes L, Verloes A
Am J Med Genet A
. 2009 Jan;
149A(1):77-92.
PMID: 19125428
An international group of clinicians and scientists working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these...
5.
Chitayat D, Keating S, Zand D, Costa T, Zackai E, Silverman E, et al.
Am J Med Genet A
. 2008 Nov;
146A(23):3038-53.
PMID: 19006208
Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and...
6.
Dobyns W, Mirzaa G, Christian S, Petras K, Roseberry J, Clark G, et al.
Am J Med Genet A
. 2008 Jun;
146A(13):1637-54.
PMID: 18536050
Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci,...
7.
Allanson J, Curry C
Am J Med Genet A
. 2005 Dec;
140(2):111-3.
PMID: 16353240
No abstract available.
8.
Vaux K, Hudgins L, Bird L, Roeder E, Curry C, Jones M, et al.
Am J Med Genet A
. 2005 Feb;
132A(3):244-7.
PMID: 15690369
The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was...
9.
Carey J, Curry C, Grix A, Golabi M, Graham Jr J, Buehler B
Am J Med Genet A
. 2003 Oct;
123A(1):1-4.
PMID: 14556241
No abstract available.
10.
Elliott A, Graham Jr J, Curry C, Pal T, Rimoin D, Lachman R
Am J Med Genet
. 2002 Nov;
113(4):351-61.
PMID: 12457407
Dolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands....