Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion.

abstract：INTRODUCTION:Recent biopsychological research on stress-related psychopathology shows promising evidence for the 5-hydroxytryptamine (5-HT) transporter linked polymorphic region (5-HTTLPR) genotype by life event interaction on depression. Yet, there appears to be variability in replicating such findings. From leading c...

journal_title：Psychiatric genetics

authors： Markus CR

更新日期：2013-06-01 00:00:00

abstract：OBJECTIVES:The NOTCH4 gene has a promoter polymor-phism at position -25, which leads to the three genotypes TT, CT and CC. These have been suggested to present a novel independent genetic risk factor for schizophrenia. We conducted a prospective case-control study to explore the impact of NOTCH4 T-25C polymorphism on t...

journal_title：Psychiatric genetics

authors： Anttila S,Kampman O,Illi A,Roivas M,Mattila KM,Lassila V,Lehtimäki T,Leinonen E

更新日期：2003-06-01 00:00:00

abstract：OBJECTIVES:The OPRL1 gene encodes the nociceptin/orphanin FQ receptor, which plays a role in regulating tolerance and behavioral responses to morphine. However, there is limited information on whether variants of OPRL1 are associated with vulnerability to develop opiate addiction. In this study, we examined five varian...

journal_title：Psychiatric genetics

authors： Briant JA,Nielsen DA,Proudnikov D,Londono D,Ho A,Ott J,Kreek MJ

更新日期：2010-04-01 00:00:00

abstract：:Genetic research of cocaine abuse has been relatively limited among the African-American population. Since the serotonin transporter (5HTT) may be involved in modulating effects of cocaine, we investigated whether allelic variants of the 5HTT gene may confer susceptibility to cocaine dependence among African-American ...

journal_title：Psychiatric genetics

authors： Patkar AA,Berrettini WH,Hoehe M,Hill KP,Gottheil E,Thornton CC,Weinstein SP

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVES:Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population. METHODS:In th...

journal_title：Psychiatric genetics

authors： Li X,Hu Z,He Y,Xiong Z,Long Z,Peng Y,Bu F,Ling J,Xun G,Mo X,Pan Q,Zhao J,Xia K

更新日期：2010-06-01 00:00:00

abstract：:The FKBP5 protein is of importance for the function of the glucocorticoid receptor. The purpose of the present study was to examine the possible association between the different genotypes of rs1360780 in the FKBP5 gene, and clinical symptoms in patients with unipolar depression. Seven hundred eighteen patients and 67...

journal_title：Psychiatric genetics

authors： Dam H,Buch JOD,Nielsen AB,Weikop P,Werge T,Jørgensen MB

更新日期：2019-12-01 00:00:00

abstract：:The 12th Annual Pharmacogenetics in Psychiatry meeting was held in Hollywood, Florida, from 31 May to 1 June 2013, in conjunction with the NCDEU meeting. It included a series of oral presentations as well as a poster session. This report summarizes the presentations at the conference. ...

journal_title：Psychiatric genetics

authors： Zhang JP,Aitchison KJ,Malhotra AK

更新日期：2014-10-01 00:00:00

abstract：OBJECTIVE:Disturbances in catecholamine transmission have been implicated in schizophrenia. Dopamine beta-hydroxylase catalyses the conversion of dopamine to norepinephrine in noradrenergic cells. We attempted to investigate a putative functional promoter polymorphism in the dopamine beta-hydroxylase gene (DBH) for ass...

journal_title：Psychiatric genetics

authors： Jönsson EG,Abou Jamra R,Schumacher J,Flyckt L,Edman G,Forslund K,Mattila-Evenden M,Rylander G,Asberg M,Bjerkenstedt L,Wiesel FA,Propping P,Cichon S,Nöthen MM,Sedvall GC

更新日期：2003-09-01 00:00:00

abstract：:The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-G...

journal_title：Psychiatric genetics

authors： Chandradasa M,Williams S

更新日期：2018-06-01 00:00:00

abstract：OBJECTIVES:Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective ...

journal_title：Psychiatric genetics

authors： Reble E,Castellani CA,Melka MG,O'Reilly R,Singh SM

更新日期：2017-04-01 00:00:00

abstract：BACKGROUND:Serotonin transporter gene (SLC6A4) variations have been proposed as an explanation for interindividual differences in selective serotonin reuptake inhibitors (SSRIs) effects. Quantitative assessment of genetic influences is necessary to evaluate whether genetic testing before antidepressant prescription wou...

journal_title：Psychiatric genetics

authors： Smits KM,Smits LJ,Peeters FP,Schouten JS,Janssen RG,Smeets HJ,van Os J,Prins MH

更新日期：2008-08-01 00:00:00

abstract：:A number of genes underlie the molecular bases of intelligence. Among these is probably CALL, a novel member of the L1 gene family of neural cell adhesion molecules. By using the single strand conformation polymorphism (SSCP) protocol, we screened the regions of the CALL gene corresponding to the 5' and 3' untranslate...

journal_title：Psychiatric genetics

authors： Angeloni D,Wei MH,Lerman MI

更新日期：1999-09-01 00:00:00

abstract：:Gilles de la Tourette syndrome (GTS) (MIM 137580) is a complex neuropsychiatric disorder probably originating from a disturbed interplay of several neurotransmitter systems in the prefrontal-limbic-basal ganglia loop. Polygenetic multifactorial inheritance has been postulated; nevertheless, no confirmed susceptible ge...

journal_title：Psychiatric genetics

authors： Dehning S,Müller N,Matz J,Bender A,Kerle I,Benninghoff J,Musil R,Spellmann I,Bondy B,Möller HJ,Riedel M,Zill P

更新日期：2010-02-01 00:00:00

abstract：:Genetic factors play a role in the vulnerability to cocaine dependence. The reinforcing properties of cocaine are related to the dopaminergic system, and, in particular, the dopamine receptors have been linked to the reward mechanisms. The present study examines the role of the variants TaqI A of the dopamine D2 recep...

journal_title：Psychiatric genetics

authors： Messas G,Meira-Lima I,Turchi M,Franco O,Guindalini C,Castelo A,Laranjeira R,Vallada H

更新日期：2005-09-01 00:00:00

abstract：:The frequencies of HLA class I (HLA-A, B, C) and class II (HLA-DR, DQ) antigens were measured in 107 unrelated schizophrenic subjects and the results compared with 264 controls from south-east Scotland and a second control group of 133 individuals from north-east England. The expression of HLA-B35 was significantly re...

journal_title：Psychiatric genetics

authors： Blackwood DH,Muir WJ,Stephenson A,Wentzel J,Ad'hiah A,Walker MJ,Papiha SS,St Clair DM,Roberts DF

更新日期：1996-07-01 00:00:00

abstract：:Basal serum thyroid-stimulating hormone (TSH) levels may predict antidepressant efficacy in patients with major depressive episodes (MDE), but data are inconsistent. As the SS genotype of the 5-HTTLPR polymorphism has been associated with a lower antidepressant efficacy in women with MDE, we aimed at assessing the rel...

journal_title：Psychiatric genetics

authors： Gressier F,Trabado S,Verstuyft C,Bouaziz E,Hardy P,Fève B,Becquemont L,Corruble E

更新日期：2011-10-01 00:00:00

abstract：:A new structural polymorphism (Ser311/Cys311) in the dopamine D2 receptor (DRD2) gene has recently been reported to be associated with schizophrenia, particularly in patients with a positive family history of schizophrenia (Arinimi et al., 1994). However these findings remain controversial (Asherson et al., 1994; Nank...

journal_title：Psychiatric genetics

authors： Laurent C,Bodeau-Péan S,Campion D,d'Amato T,Jay M,Dollfus S,Thibault F,Petit M,Samolyk D,Martinez M

更新日期：1994-01-01 00:00:00

abstract：:Animal and human studies have implicated oxytocin in affiliative and prosocial behaviors. We tested whether genetic variation in the oxytocin receptor (OXTR) gene is associated with conduct disorder (CD). Utilizing a family-based sample of adolescent probands recruited from an adolescent substance abuse treatment prog...

journal_title：Psychiatric genetics

authors： Sakai JT,Crowley TJ,Stallings MC,McQueen M,Hewitt JK,Hopfer C,Hoft NR,Ehringer MA

更新日期：2012-04-01 00:00:00

abstract：:Altered intracellular calcium homeostasis and oxidative stress are involved in the pathophysiology of bipolar disorder (BD)-I. To explore the genes contributing to these abnormalities, we examined the association with BD of the iPLA2β (PLA2G6), a signaling enzyme that mobilizes the arachidonic acid signaling cascade a...

journal_title：Psychiatric genetics

authors： Xu C,Warsh JJ,Wang KS,Mao CX,Kennedy JL

更新日期：2013-04-01 00:00:00

abstract：:There are many different genotyping technologies and chemistries. Other articles in this special issue focus on nanotechnology, bioinformatics, DNA chips and genotyping methods. This article focuses on four method categories not featured elsewhere in this, or the following special issue: (1) melting curve-based techno...

journal_title：Psychiatric genetics

authors： Breen G

更新日期：2002-06-01 00:00:00

abstract：:There is evidence for a genetic contribution to attention-deficit hyperactivity disorder (ADHD), although no candidate genes have attained genome-wide significance to date. Given that the noradrenergic system has been implicated in ADHD, the gene for the α2-adrenergic receptor (ADRA2A) has been hypothesized to contrib...

journal_title：Psychiatric genetics

authors： Shiffrin ND,Gruber J,Glatt SJ,Faraone SV

更新日期：2013-08-01 00:00:00

abstract：:Catechol-O-methyltransferase (COMT) catalyses the methylation, and hence the inactivation, of catecholamines including the neurotransmitters dopamine and noradrenaline. There is evidence implicating COMT as a candidate gene for a number of neuropsychiatric conditions including bipolar disorder. A long recognized popul...

journal_title：Psychiatric genetics

authors： Mynett-Johnson LA,Murphy VE,Claffey E,Shields DC,McKeon P

更新日期：1998-01-01 00:00:00

abstract：:Family, twin and adoption studies highlight the influence of genes in the aetiology of schizophrenia, though the mode of inheritance is unclear. We have been conducting a systematic search for major genes in schizophrenia using a series of multiply affected families and report preliminary results of linkage under hete...

journal_title：Psychiatric genetics

authors： Lin MW,Curtis D,Williams N,Arranz M,Nanko S,Collier D,McGuffin P,Murray R,Owen M,Gill M

更新日期：1995-10-01 00:00:00

abstract：BACKGROUND:The dopamine transporter gene (DAT1) is an established genetic risk factor for attention deficit hyperactivity disorder (ADHD). Therefore, we hypothesized that DAT1 may also influence the manifestation of ADHD-related traits in the normal population. METHODS:A quantitative association study was carried out ...

journal_title：Psychiatric genetics

authors： Jeong SH,Choi KS,Lee KY,Kim EJ,Kim YS,Joo EJ

更新日期：2015-06-01 00:00:00

abstract：OBJECTIVE:To examine the heritabilities of symptoms of posttraumatic stress disorder (PTSD), anxiety, depression, and the shared genetic component of these symptoms among family members exposed to the 1988 Spitak earthquake in Armenia. METHODS:Two hundred members of 12 multigenerational families exposed to the Spitak ...

journal_title：Psychiatric genetics

authors： Goenjian AK,Noble EP,Walling DP,Goenjian HA,Karayan IS,Ritchie T,Bailey JN

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:Novelty seeking is a trait that has been consistently associated with problem behaviours. There is evidence for heritability of novelty seeking, but the molecular genetic basis of the trait is still widely unclear. METHODS:The interaction between polymorphisms of catechol-O-methyltransferase (COMT) and serot...

journal_title：Psychiatric genetics

authors： Salo J,Pulkki-Råback L,Hintsanen M,Lehtimäki T,Keltikangas-Järvinen L

更新日期：2010-12-01 00:00:00

abstract：OBJECTIVE:To explore the effect of APOE polymorphisms on patients with cognitive impairments in The Chinese Han population. MATERIALS AND METHODS:A total of 1027 cases with Alzheimer's disease (AD), 40 cases with vascular dementia (VaD), 28 cases with behavioral variant frontotemporal dementia (bvFTD), 54 cases with s...

journal_title：Psychiatric genetics

authors： Chen KL,Sun YM,Zhou Y,Zhao QH,Ding D,Guo QH

更新日期：2016-06-01 00:00:00

abstract：:The brain-derived neurotrophic factor (BDNF) is a secretory growth factor that promotes neuronal proliferation and survival, synaptic plasticity and long-term potentiation in the central nervous system. Brain-derived neurotrophic factor biosynthesis and secretion are chrono-topically regulated processes at the cellula...

journal_title：Psychiatric genetics

authors： Di Carlo P,Punzi G,Ursini G

更新日期：2019-10-01 00:00:00

abstract：:It is well established that approximately 50% of the variance in personality traits is genetic. The goal of this study was to investigate a relationship between personality traits and the T-182C polymorphism in the norepinephrine transporter gene. The participants included 115 healthy adults with no history of psychia...

journal_title：Psychiatric genetics

authors： Ham BJ,Choi MJ,Lee HJ,Kang RH,Lee MS

更新日期：2005-06-01 00:00:00

abstract：BACKGROUND:Recent research has shown that loneliness, a common problem in adolescence, may have a genetic basis. The evidence, though, was limited mostly to serotonin-related and dopamine-related genes. In the present study, we focused on the oxytocin receptor gene (OXTR). METHODS:Associations were examined in a longi...

journal_title：Psychiatric genetics

authors： van Roekel E,Verhagen M,Engels RC,Goossens L,Scholte RH

更新日期：2013-10-01 00:00:00