U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 106

1.
An interaction-based model for neuropsychiatric features of copy-number variants
Matthew Jensen, Santhosh Girirajan
PLoS Genet. 2019 Jan; 15(1): e1007879. Published online 2019 Jan 17. doi: 10.1371/journal.pgen.1007879
PMCID:
PMC6336245
AbstractArticlePDF–2.3M
2.
Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice
Cinzia Vicidomini, Luisa Ponzoni, Dmitry Lim, Michael Schmeisser, Dominik Reim, Noemi Morello, Daniel Orelanna, Alessandro Tozzi, Valentina Durante, Paolo Scalmani, Massimo Mantegazza, Armando A. Genazzani, Maurizio Giustetto, Mariaelvina Sala, Paolo Calabresi, Tobias M. Boeckers, Carlo Sala, Chiara Verpelli
Mol Psychiatry. Author manuscript; available in PMC 2017 Apr 25.
Published in final edited form as: Mol Psychiatry. 2017 May; 22(5): 689–702. Published online 2016 Mar 29. doi: 10.1038/mp.2016.30
Correction in:
Mol Psychiatry. 2016 Apr 26 : 10.1038/mp.2016.70.
PMCID:
PMC5014121
AbstractArticlePDF–2.0M
3.
Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2)
Zhuoyang Lu, M. V. V. V. Sekhar Reddy, Jianfang Liu, Ana Kalichava, Jiankang Liu, Lei Zhang, Fang Chen, Yun Wang, Luis Marcelo F. Holthauzen, Mark A. White, Suchithra Seshadrinathan, Xiaoying Zhong, Gang Ren, Gabby Rudenko
J Biol Chem. 2016 Nov 11; 291(46): 24133–24147. Published online 2016 Sep 12. doi: 10.1074/jbc.M116.748236
PMCID:
PMC5104938
AbstractArticlePDF–4.6M
4.
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BMC Med Genet. 2017; 18: 30. Published online 2017 Mar 17. doi: 10.1186/s12881-017-0394-7
PMCID:
PMC5356410
AbstractArticlePDF–2.5M
5.
Fragile X syndrome: a review of clinical and molecular diagnoses
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
Ital J Pediatr. 2017; 43: 39. Published online 2017 Apr 19. doi: 10.1186/s13052-017-0355-y
PMCID:
PMC5395755
AbstractArticlePDF–598K
6.
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy
Myriam Srour, Noriaki Shimokawa, Fadi F. Hamdan, Christina Nassif, Chantal Poulin, Lihadh Al Gazali, Jill A. Rosenfeld, Noriyuki Koibuchi, Guy A. Rouleau, Aisha Al Shamsi, Jacques L. Michaud
Am J Hum Genet. 2017 May 4; 100(5): 824–830. Published online 2017 Apr 20. doi: 10.1016/j.ajhg.2017.03.009
PMCID:
PMC5420346
AbstractArticlePDF–463K
7.
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P. Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
Genet Med. 2017 Jun; 19(6): 691–700. Published online 2016 Nov 10. doi: 10.1038/gim.2016.176
PMCID:
PMC5438871
AbstractArticlePDF–1.1M
8.
EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction
Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Mol Autism. 2018; 9: 5. Published online 2018 Jan 25. doi: 10.1186/s13229-018-0193-9
PMCID:
PMC5784506
AbstractArticlePDF–389K
9.
Prader-Willi Syndrome Genetic Subtypes and Clinical Neuropsychiatric Diagnoses in Residential Care Adults
Ann M. Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain, Merlin G. Butler
Clin Genet. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Clin Genet. 2018 Mar; 93(3): 622–631. Published online 2018 Feb 5. doi: 10.1111/cge.13142
PMCID:
PMC5828945
AbstractArticlePDF–780K
10.
Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers
Andrea L. Pappas, Alexandra L. Bey, Xiaoming Wang, Mark Rossi, Yong Ho Kim, Haidun Yan, Fiona Porkka, Lara J. Duffney, Samantha M. Phillips, Xinyu Cao, Jin-dong Ding, Ramona M. Rodriguiz, Henry H. Yin, Richard J. Weinberg, Ru-Rong Ji, William C. Wetsel, Yong-hui Jiang
JCI Insight. 2017 Oct 19; 2(20): e92052. Published online 2017 Oct 19. doi: 10.1172/jci.insight.92052
PMCID:
PMC5846902
AbstractArticlePDF–7.3M
11.
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal
BMC Med Genet. 2018; 19: 184. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0700-z
PMCID:
PMC6180591
AbstractArticlePDF–698K
12.
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
Nancy J. Butcher, Erik Boot, Anthony E. Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S. Bassett
Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2146–2159. Published online 2018 May 19. doi: 10.1002/ajmg.a.38708
PMCID:
PMC6209527
AbstractArticlePDF–269K
13.
The Fragile X Mental Retardation 1 Gene (FMR1): Historical Perspective, Phenotypes, Mechanism, Pathology, and Epidemiology
Jim Grigsby
Clin Neuropsychol. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Clin Neuropsychol. 2016 Aug; 30(6): 815–833. Published online 2016 Jun 29. doi: 10.1080/13854046.2016.1184652
PMCID:
PMC5011753
AbstractArticlePDF–361K
14.
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz
Mol Psychiatry. 2019; 24(2): 241–251. Published online 2018 Jun 11. doi: 10.1038/s41380-018-0066-9
PMCID:
PMC6344372
AbstractArticlePDF–860K
15.
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
Wahab A. Khan, Ninette Cohen, Stuart A. Scott, Elaine M. Pereira
BMC Med Genomics. 2019; 12: 51. Published online 2019 Mar 18. doi: 10.1186/s12920-019-0497-4
PMCID:
PMC6421695
AbstractArticlePDF–2.8M
16.
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family
Haiming Yuan, Qingming Wang, Yanhui Liu, Wei Yang, Yi He, James F. Gusella, Jiage Song, Yiping Shen
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2019 Apr 2.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2018 Sep; 177(6): 589–595. Published online 2018 Aug 4. doi: 10.1002/ajmg.b.32673
PMCID:
PMC6445570
AbstractArticlePDF–1.2M
17.
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
Siddharth Srivastava, Tejasvi Niranjan, Melanie M. May, Patrick Tarpey, William Allen, Anna Hackett, Pierre‐Simon Jouk, Lucy Raymond, Slyvain Briault, Cindy Skinner, Annick Toutain, Jozef Gecz, William Heath, Roger E. Stevenson, Charles E. Schwartz, Tao Wang
Mol Genet Genomic Med. 2019 Apr; 7(4): e00569. Published online 2019 Feb 6. doi: 10.1002/mgg3.569
PMCID:
PMC6465656
AbstractArticlePDF–875K
18.
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report
Martina Siracusano, Assia Riccioni, Antonia Baratta, Maurizia Baldi, Paolo Curatolo, Luigi Mazzone
J Med Case Rep. 2019; 13: 100. Published online 2019 Apr 23. doi: 10.1186/s13256-019-2043-6
PMCID:
PMC6477736
AbstractArticlePDF–847K
19.
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity
Caterina Montani, Mariana Ramos-Brossier, Luisa Ponzoni, Laura Gritti, Andrzej W. Cwetsch, Daniela Braida, Yoann Saillour, Benedetta Terragni, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Pierre Billuart, Carlo Sala
J Neurosci. 2017 Jul 12; 37(28): 6606–6627. doi: 10.1523/JNEUROSCI.3775-16.2017
PMCID:
PMC6596553
AbstractArticlePDF–6.8M
20.
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry
Rebecca M. Pollak, Melissa M. Murphy, Michael P. Epstein, Michael E. Zwick, Cheryl Klaiman, Celine A. Saulnier, the Emory 3q29 Project, Jennifer G. Mulle
Mol Autism. 2019; 10: 30. Published online 2019 Jul 16. doi: 10.1186/s13229-019-0281-5
PMCID:
PMC6636128
AbstractArticlePDF–1.3M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center