Frontiers in Immunology, 2023 IntroductionComprehensive genetic analysis is essential to clinical care of patients with atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment.
Sara Gastoldi +12 more
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Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. [PDF]
Int J Mol Sci, 2017 Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters.
Khincha PP +11 more
europepmc +2 more sources
Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation
Neurobiology of Disease, 2021 Focal dystonias are the most common forms of isolated dystonia; however, the etiopathophysiological signatures of disorder penetrance and clinical manifestation remain unclear. Using an imaging genetics approach, we investigated functional and structural
Sanaz Khosravani +3 more
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Working Memory in Unaffected Relatives of Patients With Schizophrenia: A Meta-Analysis of Functional Magnetic Resonance Imaging Studies. [PDF]
Schizophr Bull, 2016 Working memory deficits, a core cognitive feature of schizophrenia may arise from dysfunction in the frontal and parietal cortices. Numerous studies have also found abnormal neural activation during working memory tasks in patients' unaffected relatives.
Zhang R +3 more
europepmc +2 more sources
Pro-inflammatory cytokine alterations in unaffected first-degree relatives of schizophrenia patients
European Psychiatry, 2021 Introduction A growing body of evidence in both chronic and first-episode schizophrenia report increased expression of pro-inflammatory substances in the blood and cerebrospinal fluid of patients.
A. Kurtulmus
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Frontiers in Psychology, 2022 Few studies have explored the differences in clinical psychopathology between youth at high risk for psychosis and those at familial high risk for psychosis.
Lourdes Nieto +5 more
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Sichuan jingshen weisheng, 2021 ObjectiveTo study the prospective memory deficits of obsessive-compulsive disorder patients and unaffected first-degree relatives of patients， so as to validate the possibility of prospective memory as an endophenotype of obsessive-compulsive disorder ...
Wei Zhen +3 more
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Neurocognitive impairments in unaffected first-degree relatives of schizophrenia
Indian Journal of Psychological Medicine, 2017 Background: Neurocognitive impairments of attention and executive functioning are trait abnormalities in schizophrenia, and these are considered to be endophenotypes. These deficits have been convincingly linked to prefrontal cortical functioning.
Virupaksha Shanmugam Harave +5 more
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Impaired regulation of emotion: neural correlates of reappraisal and distraction in bipolar disorder and unaffected relatives. [PDF]
Transl Psychiatry, 2015 Deficient emotion regulation has been proposed as a crucial pathological mechanism in bipolar disorder (BD). We therefore investigated emotion regulation impairments in BD, the related neural underpinnings and their etiological relevance for the disorder.
Kanske P +3 more
europepmc +2 more sources
Spatial working memory performance in people with obsessive–compulsive disorder, their unaffected first-degree relatives and healthy controls [PDF]
, 2021 Studies have shown that people with obsessive–compulsive disorder (OCD) have impairments in spatial working memory (SWM) performance. However, it remains unclear whether this deficit represents a cognitive endophenotype preceding symptoms or a correlate ...
Lennertz, Leonhard +8 more
core +1 more source