PMC Articles for MedGen (Select 720584) - PMC

Select item 94467761.

A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism

Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo, Lizbeth Contreras, Teresa González, María S. Pérez-Poyato, Carmen Valenzuela, Domingo González-Lamuño, Alberto Gandarillas

Orphanet J Rare Dis. 2022; 17: 345. Published online 2022 Sep 6. doi: 10.1186/s13023-022-02499-z

PMCID:: PMC9446776

Abstract Article PDF–3.5M

Select item 89397992.

The oxytocin receptor gene polymorphism rs2268491 and serum oxytocin alterations are indicative of autism spectrum disorder: A case-control paediatric study in Iraq with personalized medicine implications

Zainab Al-Ali, Akeel Abed Yasseen, Arafat Al-Dujailli, Ahmed Jafar Al-Karaqully, Katherine Ann McAllister, Alaa Salah Jumaah

PLoS One. 2022; 17(3): e0265217. Published online 2022 Mar 22. doi: 10.1371/journal.pone.0265217

PMCID:: PMC8939799

Abstract Article PDF–786K

Select item 71160693.

Male‐specific alterations in structure of isolation call sequences of mouse pups with 16p11.2 deletion

Swapna Agarwalla, Noelle S. Arroyo, Natalie E. Long, William T. O'Brien, Ted Abel, Sharba Bandyopadhyay

Genes Brain Behav. 2020 Sep; 19(7): e12681. Published online 2020 Jul 6. doi: 10.1111/gbb.12681

PMCID:: PMC7116069

Abstract Article PDF–2.0M

Select item 60970114.

5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder

Ying Cheng, Ziyi Li, Sasicha Manupipatpong, Li Lin, Xuekun Li, Tianlei Xu, Yong-Hui Jiang, Qiang Shu, Hao Wu, Peng Jin

Hum Mol Genet. 2018 Sep 1; 27(17): 2955–2964. Published online 2018 May 22. doi: 10.1093/hmg/ddy193

PMCID:: PMC6097011

Abstract Article PDF–1012K

Select item 35521595.

Association Analysis of Two Single-Nucleotide Polymorphisms of the RELN Gene with Autism in the South African Population

Jyoti Rajan Sharma, Zainunisha Arieff, Hajirah Gameeldien, Muneera Davids, Mandeep Kaur, Lize van der Merwe

Genet Test Mol Biomarkers. 2013 Feb; 17(2): 93–98. doi: 10.1089/gtmb.2012.0212

PMCID:: PMC3552159

Abstract Article PDF–157K

Select item 27374796.

Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders

Valerie W. Hu, Mara E. Steinberg

Autism Res. Author manuscript; available in PMC 2009 Sep 3.

Published in final edited form as: Autism Res. 2009 Apr; 2(2): 67–77. doi: 10.1002/aur.72

PMCID:: PMC2737479

Abstract Article PDF–1.5M

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