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Items: 1 to 20 of 500

1.
Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication impairment
Dianne F Newbury, Pamela C Warburton, Natalie Wilson, Elena Bacchelli, Simona Carone, Janine A Lamb, Elena Maestrini, Emanuela V Volpi, Shehla Mohammed, Gillian Baird, Anthony P Monaco, The International Molecular Genetic Study of Autism Consortium (IMGSAC)
Am J Med Genet A. 2009 Apr; 149A(4): 588–597. Published online 2009 Mar 6. doi: 10.1002/ajmg.a.32704
PMCID:
PMC2680219
AbstractArticlePDF–717K
2.
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility
E Maestrini, A T Pagnamenta, J A Lamb, E Bacchelli, N H Sykes, I Sousa, C Toma, G Barnby, H Butler, L Winchester, T S Scerri, F Minopoli, J Reichert, G Cai, J D Buxbaum, O Korvatska, G D Schellenberg, G Dawson, A de Bildt, R B Minderaa, E J Mulder, A P Morris, A J Bailey, A P Monaco, IMGSAC
Mol Psychiatry. 2010 Sep; 15(9): 954–968. Published online 2009 Apr 28. doi: 10.1038/mp.2009.34
PMCID:
PMC2934739
AbstractArticlePDF–376K
3.
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
Shuang Liang, Xue-lai Wang, Ming-yang Zou, Han Wang, Xue Zhou, Cai-hong Sun, Wei Xia, Li-jie Wu, Takashi X. Fujisawa, Akemi Tomoda
J Zhejiang Univ Sci B. 2014 Mar; 15(3): 264–271. doi: 10.1631/jzus.B1300133
PMCID:
PMC3955913
AbstractArticlePDF–390K
4.
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
G. Bradley Schaefer, Nancy J. Mendelsohn, the Professional Practice and Guidelines Committee
Version 1. Genet Med. 2008 Apr; 10(4): 301–305. doi: 10.1097/GIM.0b013e31816b5cc9
PMCID:
PMC3111012
AbstractArticlePDF–88K
5.
Structure-function relationships of the disease-linked A218T oxytocin receptor variant
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, Rui Ribeiro, Vladimir M. Milenkovic, Julia Winter, Petra Hoffmann, Christian H. Wetzel, Alejandro Giorgetti, Paolo Carloni, Inga D. Neumann
Mol Psychiatry. 2022; 27(2): 907–917. Published online 2022 Jan 4. doi: 10.1038/s41380-021-01241-8
PMCID:
PMC9054668
AbstractArticlePDF–3.4M
6.
Genetics of age-at-onset in major depression
Arvid Harder, Thuy-Dung Nguyen, Joëlle A. Pasman, Miriam A. Mosing, Sara Hägg, Yi Lu
Transl Psychiatry. 2022; 12: 124. Published online 2022 Mar 26. doi: 10.1038/s41398-022-01888-z
PMCID:
PMC8960842
AbstractArticlePDF–858K
7.
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
Genome Med. 2022; 14: 40. Published online 2022 Apr 26. doi: 10.1186/s13073-022-01042-w
PMCID:
PMC9040275
AbstractArticlePDF–7.6M
8.
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
AbstractArticlePDF–2.0M
9.
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, Rosaria Nardello
Mol Genet Genomic Med. 2022 May; 10(5): e1911. Published online 2022 Mar 29. doi: 10.1002/mgg3.1911
PMCID:
PMC9034667
AbstractArticlePDF–1.0M
10.
Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
Annaluisa Ranieri, Iolanda Veneruso, Ilaria La Monica, Maria Grazia Pascale, Lucio Pastore, Valeria D’Argenio, Barbara Lombardo
Medicina (Kaunas) 2022 Apr; 58(4): 522. Published online 2022 Apr 7. doi: 10.3390/medicina58040522
PMCID:
PMC9030270
AbstractArticlePDF–905K
11.
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Genes (Basel) 2022 Apr; 13(4): 688. Published online 2022 Apr 14. doi: 10.3390/genes13040688
PMCID:
PMC9025881
AbstractArticlePDF–1.6M
12.
The dopamine transporter gene SLC6A3: multidisease risks
Maarten E. A. Reith, Sandhya Kortagere, Corinde E. Wiers, Hui Sun, Manju A. Kurian, Aurelio Galli, Nora D. Volkow, Zhicheng Lin
Mol Psychiatry. 2022; 27(2): 1031–1046. Published online 2021 Oct 14. doi: 10.1038/s41380-021-01341-5
PMCID:
PMC9008071
AbstractArticlePDF–2.6M
13.
Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome
A. Kolevzon, M. S. Breen, P. M. Siper, D. Halpern, Y. Frank, H. Rieger, J. Weismann, M. P. Trelles, B. Lerman, R. Rapaport, J. D. Buxbaum
Mol Autism. 2022; 13: 17. Published online 2022 Apr 8. doi: 10.1186/s13229-022-00493-7
PMCID:
PMC8994375
AbstractArticlePDF–750K
14.
Neurodevelopmental profile of HIVEP2-related disorder
ALISA MO, LEEANNE G SNYDER, OWEN BABINGTON, WENDY K CHUNG, MUSTAFA SAHIN, SIDDHARTH SRIVASTAVA
Dev Med Child Neurol. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Dev Med Child Neurol. 2022 May; 64(5): 654–661. Published online 2021 Oct 26. doi: 10.1111/dmcn.15100
PMCID:
PMC8986546
AbstractArticlePDF–446K
15.
Loss of neurodevelopmental-associated miR-592 impairs neurogenesis and causes social interaction deficits
Yu Fu, Yang Zhou, Yuan-Lin Zhang, Bo Zhao, Xing-Liao Zhang, Wan-Ting Zhang, Yi-Jun Lu, Aiping Lu, Jun Zhang, Jing Zhang
Cell Death Dis. 2022 Apr; 13(4): 292. Published online 2022 Apr 1. doi: 10.1038/s41419-022-04721-z
PMCID:
PMC8976077
AbstractArticlePDF–7.6M
16.
Developmental pyrethroid exposure and age influence phenotypes in a Chd8 haploinsufficient autism mouse model
Jessica A. Jiménez, Jeremy M. Simon, Wenxin Hu, Sheryl S. Moy, Kathryn M. Harper, Chih-Wei Liu, Kun Lu, Mark J. Zylka
Sci Rep. 2022; 12: 5555. Published online 2022 Apr 1. doi: 10.1038/s41598-022-09533-x
PMCID:
PMC8975859
AbstractArticlePDF–1.6M
17.
Inflammation and Brain Structure in Schizophrenia and Other Neuropsychiatric Disorders: A Mendelian Randomization Study
John A. Williams, Stephen Burgess, John Suckling, Paris Alexandros Lalousis, Fatima Batool, Sian Lowri Griffiths, Edward Palmer, Andreas Karwath, Andrey Barsky, Georgios V. Gkoutos, Stephen Wood, Nicholas M. Barnes, Anthony S. David, Gary Donohoe, Joanna C. Neill, Bill Deakin, Golam M. Khandaker, Rachel Upthegrove
JAMA Psychiatry. 2022 May; 79(5): 498–507. Published online 2022 Mar 30. doi: 10.1001/jamapsychiatry.2022.0407
PMCID:
PMC8968718
AbstractArticle
18.
The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis
Stacey Bissell, Chris Oliver, Joanna Moss, Mary Heald, Jane Waite, Hayley Crawford, Vishakha Kothari, Lauren Rumbellow, Grace Walters, Caroline Richards
J Neurodev Disord. 2022; 14: 25. Published online 2022 Mar 29. doi: 10.1186/s11689-022-09426-0
PMCID:
PMC8966214
AbstractArticlePDF–2.0M
19.
Life-time Actionable Pharmacogenetic Drug Use: A Population-based Cohort Study in 86 040 Young People With and Without Mental Disorders in Denmark
Carin A.T.C. Lunenburg, Kazi Ishtiak-Ahmed, Thomas Werge, Christiane Gasse
Pharmacopsychiatry. 2022 Mar; 55(2): 95–107. Published online 2021 Nov 9. doi: 10.1055/a-1655-9500
PMCID:
PMC8964272
AbstractArticlePDF–522K
20.
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
Veronica Bertini, Roberta Milone, Paola Cristofani, Francesca Cambi, Chiara Bosetti, Filippo Barbieri, Silvano Bertelloni, Giovanni Cioni, Angelo Valetto, Roberta Battini
Genes (Basel) 2022 May; 13(5): 859. Published online 2022 May 12. doi: 10.3390/genes13050859
PMCID:
PMC9140951
AbstractArticlePDF–1.1M

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