C E Schwartz
Overview
Explore the profile of C E Schwartz 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
192
Citations
4324
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.
Schenkel L, Aref-Eshghi E, Rooney K, Kerkhof J, Levy M, McConkey H, et al.
Clin Epigenetics
. 2021 Jan;
13(1):2.
PMID: 33407854
Background: Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal...
2.
Schwartz C, Kunwar P, Hirshfeld-Becker D, Henin A, Vangel M, Rauch S, et al.
Transl Psychiatry
. 2015 Jul;
5:e605.
PMID: 26196438
Behavioral inhibition (BI) is a genetically influenced behavioral profile seen in 15-20% of 2-year-old children. Children with BI are timid with people, objects and situations that are novel or unfamiliar,...
3.
Shashi V, Xie P, Schoch K, Goldstein D, Howard T, Berry M, et al.
Clin Genet
. 2014 Sep;
88(4):386-90.
PMID: 25256757
A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large...
4.
Basehore M, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird L, Friez M, et al.
Clin Genet
. 2014 May;
87(5):461-6.
PMID: 24805811
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in...
5.
Schwartz C, Fierston S
NeuroRehabilitation
. 2014 Feb;
5(4):359-65.
PMID: 24525580
A significant number of people with multiple sclerosis experience pathological laughing and weeping. This article presents two perspectives on these symptoms. First, the neurological literature is reviewed. Then, the patient's...
6.
Schwartz C, Kozora E, Zeng Q
Ann Behav Med
. 2013 Nov;
18(3):177-84.
PMID: 24203770
The present work addressed the specificity and sensitivity of patient-reported cognitive ability using both cross-sectional and longitudinal data, and the incremental validity of patient self-report in addition to knowledge gained...
7.
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grunewald S, Anselm I, et al.
J Med Genet
. 2013 May;
50(7):463-72.
PMID: 23644449
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype...
8.
Cristino A, Williams S, Hawi Z, An J, Bellgrove M, Schwartz C, et al.
Mol Psychiatry
. 2013 Feb;
19(3):294-301.
PMID: 23439483
Many putative genetic factors that confer risk to neurodevelopmental disorders such as autism spectrum disorders (ASDs) and X-linked intellectual disability (XLID), and to neuropsychiatric disorders including attention deficit hyperactivity disorder...
9.
Simensen R, Rogers R, Collins J, Abidi F, Schwartz C, Stevenson R
Genet Couns
. 2012 May;
23(1):31-40.
PMID: 22611640
We present the cognitive abilities of females from five families who carry a mutation in a gene (KDM5C, formerly JARIDIC or SMCX) in Xp 11.2 that encodes a transcriptional regulator...
10.
Takano K, Tan W, Irons M, Jones J, Schwartz C
Clin Genet
. 2011 Nov;
80(6):600-1.
PMID: 22040220
No abstract available.