American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Cover Image, Volume 177B, Number 8, December 2018
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research
Issue Information ‐ TOC
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 8, Page 685-686, December 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research
The involvement of the canonical Wnt ‐signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta‐analysis
Wnt ‐signaling is one of the most abundant pathways involved in processes such as cell‐proliferation, ‐polarity, and ‐differentiation. Altered Wnt‐signaling has been linked with several neurodevelopmental disorders including attention‐deficit/hyperactivity disorder (ADHD) as well as with cog nitive functions, learning and memory. Particularly, lipoprotein receptor‐related protein 5 (LRP5) or LRP6 coreceptors, responsible in the activation of the canonical Wnt‐pathway, were associated with cognitive alterations in psychiatric disorders. Following the hypothesis of Wnt involvement in ADHD, we investigated the...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 25, 2018 Category: Genetics & Stem Cells Authors: Edna Gr ünblatt,
Zsofia Nemoda,
Anna Maria Werling,
Alexander Roth,
Nora Angyal,
Zsanett Tarnok,
Hauke Thomsen,
Triinu Peters,
Anke Hinney,
Johannes Hebebrand,
Klaus‐Peter Lesch,
Marcel Romanos,
Susanne Walitza Tags: RESEARCH ARTICLE Source Type: research
Sequence variants in muscle tissue ‐related genes may determine the severity of muscle contractures in cerebral palsy
AbstractMuscle contractures are a common complication to cerebral palsy (CP). The purpose of this study was to evaluate whether individuals with CP carry specific gene variants of important structural genes that might explain the severity of muscle contractures. Next ‐generation‐sequencing (NGS) of 96 candidate genes associated with muscle structure and metabolism were analyzed in 43 individuals with CP (Gross Motor Function classification system [GMFCS] I,n=10; GMFCS II,n=14; GMFCS III,n=19) and four control participants. In silico analysis of the identified variants was performed. The variants were classified into fo...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Jessica Pingel,
Jeppe Dyrberg Andersen,
Sofie Lindgren Christiansen,
Claus B ørsting,
Niels Morling,
Jakob Lorentzen,
Henrik Kirk,
Simon Doessing,
Christian Wong,
Jens Bo Nielsen Tags: RESEARCH ARTICLE Source Type: research
Aberrant transcriptomes and DNA methylomes define pathways that drive pathogenesis and loss of brain laterality/asymmetry in schizophrenia and bipolar disorder
Although the loss of brain laterality is one of the most consistent modalities in schizophrenia (SCZ) and bipolar disorder (BD), its molecular basis remains elusive. Our limited previous studies indicated that epigenetic modifications are key to the asymmetric transcriptomes of brain hemispheres. We used whole ‐genome expression microarrays to profile postmortem brain samples from subjects with SCZ, psychotic BD [BD[+]] or non‐psychotic BD [BD(−)], or matched controls (10/group) and performed whole‐genome DNA methylation (DNAM) profiling of the same samples (3‐4/group) to identify pathways assoc iated with SCZ or...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Hamid M. Abdolmaleky,
Adam C. Gower,
Chen ‐Khuan Wong,
Jiayi W. Cox,
Xiaoling Zhang,
Arunthathi Thiagalingam,
Rahim Shafa,
Vadivelu Sivaraman,
Jin‐Rong Zhou,
Sam Thiagalingam Tags: ORIGINAL ARTICLE Source Type: research
Italian validation of the functional difficulties questionnaire (FDQ ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder
The 2017 nosology defines the new criteria for hypermobile Ehlers –Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ‐9) is one of the few available tools. The aims of this study are to (a) validate FDQ‐9 written in Italian and...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 23, 2018 Category: Genetics & Stem Cells Authors: Silvia Morlino,
Chiara Dordoni,
Isabella Sperduti,
Carol J. Clark,
Caterina Piedimonte,
Andrea Fontana,
Marina Colombi,
Paola Grammatico,
Massimiliano Copetti,
Marco Castori Tags: RESEARCH ARTICLE Source Type: research
Sex differences in the genetic architecture of obsessive –compulsive disorder
We present the first genome‐wide characterization of the sex‐specific genetic architecture of OCD, utilizing the largest set of OCD cases and controls available from the Psychiatric Genomics Consortium. We assessed evidence for several mechanisms that may contribute to sex differences including a sex‐dependent liability threshold, the presence of individual sex‐specific risk variants on the autosomes and the X chromosome, and sex‐specific pleiotropic effects. Furthermore, we tested the hypothesis that genetic heterogeneity between the sexes may obscure associations in a sex‐combined genome‐wide association st...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2018 Category: Genetics & Stem Cells Authors: Ekaterina A. Khramtsova,
Raphael Heldman,
Eske M. Derks,
Dongmei Yu,
Tourette Syndrome/Obsessive ‐Compulsive Disorder Working Group of the Psychiatric Genomics Consortium,
Lea K. Davis,
Barbara E. Stranger Tags: ORIGINAL ARTICLE Source Type: research
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability
In conclusion, our findings support the possible role of CNKSR1 in brain development which can lead to cognitive impairment. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 18, 2018 Category: Genetics & Stem Cells Authors: Somayeh Kazeminasab,
Ibrahim Ihsan Taskiran,
Zohreh Fattahi,
Niloofar Bazazzadegan,
Masoumeh Hosseini,
Maryam Rahimi,
Morteza Oladnabi,
Mohammad Haddadi,
Arzu Celik,
Hans ‐Hilger Ropers,
Hossein Najmabadi,
Kimia Kahrizi Tags: RESEARCH ARTICLE Source Type: research
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome
AbstractChromosome 22q11.2 deletion syndrome (22q11DS) is associated with impairment in multiple domains of cognition and risk for several psychiatric disorders. Musical auditory processing is highly heritable, and is impaired in individuals with schizophrenia and other neurodevelopmental disorders, but has never been studied in 22q11DS, notwithstanding anecdotal evidence of its sparing. We aimed to characterize musical auditory processing in 22q11DS and explore potential relationships with other cognitive domains, musical engagement, and psychiatric disorders. The Distorted Tunes Task and Global Musical Sophistication Ind...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 16, 2018 Category: Genetics & Stem Cells Authors: Lucy Gao,
Sunny X. Tang,
James J. Yi,
Donna M. McDonald ‐McGinn,
Elaine H. Zackai,
Beverly S. Emanuel,
Ruben C. Gur,
Monica E. Calkins,
Raquel E. Gur Tags: RESEARCH ARTICLE Source Type: research
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
AbstractProtein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations inPSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affe...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 13, 2018 Category: Genetics & Stem Cells Authors: Raida Khalil,
Connor Kenny,
R. Sean Hill,
Ganeshwaran H. Mochida,
Ramzi Nasir,
Jennifer N. Partlow,
Brenda J. Barry,
Muna Al ‐Saffar,
Chloe Egan,
Christine R. Stevens,
Stacey B. Gabriel,
A. James Barkovich,
Jay W. Ellison,
Lihadh Al‐Gazal Tags: ORIGINAL ARTICLE Source Type: research
Cover Image, Volume 177B, Number 7, October 2018
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research
Issue Information ‐ TOC
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 7, Page 597-598, October 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research
Introduction to special section on Leveraging Electronic Health Records for psychiatric genetic research
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 177, Issue 7, Page 599-600, October 2018. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 10, 2018 Category: Genetics & Stem Cells Authors: Anjen é M. Addington Tags: EDITORIAL Source Type: research
