Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1999 1
2004 1
2006 2
2008 1
2011 1
2012 1
2013 1
2016 1
2017 2
2018 1
2019 1
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in sil …
We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported …
Anger and aggression problems in veterans are associated with an increased acoustic startle reflex.
Heesink L, Kleber R, Häfner M, van Bedaf L, Eekhout I, Geuze E. Heesink L, et al. Biol Psychol. 2017 Feb;123:119-125. doi: 10.1016/j.biopsycho.2016.12.004. Epub 2016 Dec 8. Biol Psychol. 2017. PMID: 27939701
Increased EMG responses were found to the startle probes in the Anger Group compared to the Control group, but not to the prepulse trials. Furthermore, Harm Avoidance and State Anger predicted the increased startle reflex within the Anger group, whereas Trait Anger was neg …
Increased EMG responses were found to the startle probes in the Anger Group compared to the Control group, but not to the prepulse trials. F …
Effects of Bullying on Anxiety, Depression, and Posttraumatic Stress Disorder Among Sexual Minority Youths: Network Analysis.
Li J, Jin Y, Xu S, Wilson A, Chen C, Luo X, Liu Y, Ling X, Sun X, Wang Y. Li J, et al. JMIR Public Health Surveill. 2023 Nov 1;9:e47233. doi: 10.2196/47233. JMIR Public Health Surveill. 2023. PMID: 37910159 Free PMC article.
In the anxiety-depression-PTSD Bayesian network, anhedonia had the highest prediction priority for activating other symptoms; and feeling afraid linked symptoms from anxiety to the PTSD community. ...
In the anxiety-depression-PTSD Bayesian network, anhedonia had the highest prediction priority for activating other symptoms; and fee …
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
The diagnosis altered the patient's medical care to his benefit because SLC6A5 mutations with rather benign courses of hyperekplexia may be spared of needless pharmacotherapy. ...
The diagnosis altered the patient's medical care to his benefit because SLC6A5 mutations with rather benign courses of hyperekplexia …
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK. Heinonen T, et al. Hum Genet. 2023 Aug;142(8):1221-1230. doi: 10.1007/s00439-023-02571-z. Epub 2023 May 24. Hum Genet. 2023. PMID: 37222814 Free PMC article.
The canine GLRA1 deletion is located in the signal peptide and is predicted to cause exon skipping and subsequent premature stop codon resulting in a significant defect in glycine signaling. ...
The canine GLRA1 deletion is located in the signal peptide and is predicted to cause exon skipping and subsequent premature stop codo …
Exploring the impact of dysfunctional posttraumatic survival responses on crime revictimization.
Kunst MJ, Winkel FW. Kunst MJ, et al. Violence Vict. 2013;28(4):670-80. doi: 10.1891/0886-6708.vv-d-12-00035. Violence Vict. 2013. PMID: 24047046
An evolutionary psychological perspective was adopted to propose that symptoms of hyperarousal (particularly hypervigilance, exaggerated startle response, and irritability or outbursts of anger) and numbing predict revictimization. These symptoms may act as manifestations …
An evolutionary psychological perspective was adopted to propose that symptoms of hyperarousal (particularly hypervigilance, exaggerated sta …
Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review.
Watkins MG, Dejkhamron P, Huo J, Vazquez DM, Menon RK. Watkins MG, et al. Endocr Pract. 2008 May-Jun;14(4):479-83. doi: 10.4158/EP.14.4.479. Endocr Pract. 2008. PMID: 18558604 Review.
Analysis of the patient's DNA revealed a heterozygous T-to-C substitution at amino acid 568 in exon 10 (Ile568Thr), which predicts an isoleucine to threonine conversion in the second extracellular loop of TSHR. ...
Analysis of the patient's DNA revealed a heterozygous T-to-C substitution at amino acid 568 in exon 10 (Ile568Thr), which predicts an …
Differences in the phenotypic expression of posttraumatic stress disorder symptoms in US military veterans with and without clinical insomnia.
DeViva JC, McCarthy E, Fischer I, Pietrzak RH. DeViva JC, et al. J Clin Sleep Med. 2024 Mar 1;20(3):345-351. doi: 10.5664/jcsm.10872. J Clin Sleep Med. 2024. PMID: 38426846
A multivariable logistic regression analysis further revealed that trauma-related sleep difficulties, trauma-related physiological reactivity, and exaggerated startle response independently predicted probable PTSD and clinical insomnia relative to PTSD alone. ...
A multivariable logistic regression analysis further revealed that trauma-related sleep difficulties, trauma-related physiological reactivit …
16 results