American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

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Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 144B Số 3 - Trang 271-278 - 2007
Xiangdong Deng, Hiroki Shibata, Naoko Takeuchi, Shinako Rachi, Mayumi Sakai, Hideaki Ninomiya, Nakao Iwata, Norio Ozaki, Yasuyuki Fukumaki
AbstractBased on the glutamatergic dysfunction hypothesis for schizophrenia pathogenesis, we have been performing systematic association studies of schizophrenia with the glutamate receptor and transporter genes. We report here association studies of schizophrenia with three glutamate transporter genes SLC1A1, SLC1A3... hiện toàn bộ
A meta‐analysis of association studies between the 10‐repeat allele of a VNTR polymorphism in the 3′‐UTR of dopamine transporter gene and attention deficit hyperactivity disorder
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 144B Số 4 - Trang 541-550 - 2007
Binrang Yang, Raymond C. K. Chan, Jing Jin, Tao Li, Pak C. Sham, Ronald Y.L. Chen
AbstractThe association between the 10‐repeat allele of the dopamine transporter gene (DAT) and attention deficit hyperactivity disorder (ADHD) is uncertain. This study aimed to conduct a meta‐analysis of the association between the 10‐repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3′‐untranslated region (UTR)...... hiện toàn bộ
Relationship between dopaminergic neurotransmission, alcoholism, and reward deficiency syndrome
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 132B Số 1 - Trang 29-37 - 2005
Abdalla Bowirrat, Marlene Oscar‐Berman
AbstractIn this review, we described the neural substrates underlying Reward Deficiency syndrome which, in turn, is posited to underlie alcohol dependency. Alcoholism is a complex, multifactorial disorder that results from the interplay between genetic and environmental factors. The D2 dopamine receptor (DRD2) has been asso...... hiện toàn bộ
Schizophrenic‐like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 144B Số 1 - Trang 27-36 - 2007
Kathryn E. Lewandowski, Vandana Shashi, Peggy M. Berry, Thomas R. Kwapil
Abstract22q11.2 Deletion Syndrome (22q11DS) is the most common genetic microdeletion syndrome affecting humans. The syndrome is associated with general cognitive impairments and specific deficits in visual‐spatial ability, non‐verbal reasoning, and planning skills. 22q11DS is also associated with behavioral and psychiatric abnormalities, including a markedly elevat...... hiện toàn bộ
Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 135B Số 1 - Trang 50-58 - 2005
Eric T. Meyer, Mario Harvey, Monique Tremblay, Bernard Gagné, Pascal Belleau, Catherine Raymond, Michel Labbé, Marie‐Pierre Dubé, Ronald G. Lafrenière, Nicholas Barden
AbstractPrevious results from our genetic analyses using pedigrees from a French Canadian population suggested that the interval delimited by markers D12S86 and D12S378 on chromosome 12 was the most probable genomic region to contain a susceptibility gene for affective disorders. Here we present a more detailed genetic analysis of a 7.7 Mb genomic region located on...... hiện toàn bộ
Neuropsychological intra‐individual variability explains unique genetic variance of ADHD and shows suggestive linkage to chromosomes 12, 13, and 17
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 159B Số 2 - Trang 131-140 - 2012
Alexis C. Wood, Janita Bralten, Alejandro Arias Vásquez, Marjolein Luman, Jaap Ooterlaan, Joseph A. Sergeant, Stephen V. Faraone, Jan K. Buitelaar, Barbara Franke, Jonna Kuntsi, Nanda Rommelse
AbstractAttention‐deficit/hyperactivity disorder (ADHD) is a highly heritable neuropsychiatric disorder that is usually accompanied by neuropsychological impairments. The use of heritable, psychometrically robust traits that show association with the disorder of interest can increase the power of gene‐finding studies. Due to the robust association of intra‐individu...... hiện toàn bộ
Site‐specific cytosine methylation in S‐COMT promoter in 31 brain regions with implications for studies involving schizophrenia
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 133B Số 1 - Trang 37-42 - 2005
B Murphy, Richard O’Reilly, Shiva M. Singh
AbstractThe catechol‐o‐methyltransferase (COMT) gene on chromosome 22q11 has been considered a strong candidate gene for schizophrenia (SZ) susceptibility. A functional Val/Met polymorphism in exon 4, with potential to affect COMT activity has been implicated in SZ, but the results remain inconclusive. We hypoth...... hiện toàn bộ
Expression of multiple catechol‐o‐methyltransferase (COMT) mRNA variants in human brain
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 144B Số 6 - Trang 834-839 - 2007
Elizabeth M. Tunbridge, Tracy Lane, Paul J. Harrison
AbstractCatechol‐o‐methyltransferase (COMT) is important for modulating dopamine levels, prefrontal cortex (PFC) function, and several psychiatric phenotypes. A single COMT mRNA has been described in human brain, which gives rise to membrane‐bound (MB)‐ and soluble (S)‐COMT proteins. In addition, we have recently described a novel COMT protein isoform in the human ...... hiện toàn bộ
Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q‐rich‐associated protein) and schizophrenia
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 116B Số 1 - Trang 32-35 - 2003
Alessandro De Luca, Emanuela Conti, Nicoletta Grifone, Francesca Amati, Gianfranco Spalletta, Carlo Caltagirone, Giuseppina Bonaviri, Augusto Pasini, Massimo Gennarelli, Stefano Bignotti, Lucia Berti, Gerhard Mittler, Michael Meisterernst, Bruno Dallapiccola, Giuseppe Novelli
AbstractSchizophrenia or schizoaffective disorders are quite common features in patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the PCQAP gene, which maps within the DGS/VCFS interval, as a potential candidate for schizophrenia susceptibility. PCQAP... hiện toàn bộ
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 144B Số 4 - Trang 484-491 - 2007
Joseph D. Buxbaum, Guiqing Cai, Tiziana Zalla, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Henrik Anckarsäter, Maria Råstam, Christopher J. Smith, George Kirov, Eric Hollander, Marion Leboyer, Christopher Gillberg, Alain Verloès, Catalina Betancur
AbstractMutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, Proteus syndrome, and Lhermitte–Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macr...... hiện toàn bộ
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