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 160

1.
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
V des Portes, P Billuart, A Carrié, L Bachner, T Bienvenu, M C Vinet, C Beldjord, G Ponsot, A Kahn, J Boué, J Chelly
Am J Hum Genet. 1997 Apr; 60(4): 903–909.
PMCID:
PMC1712488
SummaryPage BrowsePDF–1.3M
2.
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, C E Schwartz
J Med Genet. 1997 Jul; 34(7): 529–534. doi: 10.1136/jmg.34.7.529
PMCID:
PMC1050990
SummaryPage BrowsePDF–1.4M
3.
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x
PMCID:
PMC10967201
ArticlePDF–1.2M
4.
Börjeson-Forssman-Lehmann综合征1例
潘 兰桂, 尹 飞, 陈 施梦, 熊 娟, 何 芳, 彭 镜
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Feb 28; 48(2): 294–301. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220414
PMCID:
PMC10930350
ArticlePDF–2.7M
5.
Adaptive, Behavioral and Cognitive Outcomes in Individuals with Fragile X Syndrome with Varying Autism Severity
Ramkumar Aishworiya, YeEun Tak, Matthew Dominic Ponzini, Hazel Maridith Barlahan Biag, Maria Jimena Salcedo-Arellano, Kyoungmi Kim, Flora Tassone, Andrea Schneider, Angela John Thurman, Leonard Abbeduto, David Hessl, Jamie Leah Randol, Francois V Bolduc, Sarah Lippe, Paul Hagerman, Randi Hagerman
Int J Dev Neurosci. Author manuscript; available in PMC 2024 Feb 15.
Published in final edited form as: Int J Dev Neurosci. 2023 Dec; 83(8): 715–727. Published online 2023 Sep 19. doi: 10.1002/jdn.10299
PMCID:
PMC10868665
ArticlePDF–821K
6.
Genetic etiology of progressive pediatric neurological disorders
Juho Aaltio, Anna Etula, Simo Ojanen, Virginia Brilhante, Tuula Lönnqvist, Pirjo Isohanni, Anu Suomalainen
Pediatr Res. 2024; 95(1): 102–111. Published online 2023 Aug 10. doi: 10.1038/s41390-023-02767-z
PMCID:
PMC10798881
ArticlePDF–2.3M
7.
Hypersensitivity to Distractors in Fragile X Syndrome from Loss of Modulation of Cortical VIP Interneurons
Noorhan Rahmatullah, Lauren M. Schmitt, Lisa De Stefano, Sam Post, Jessica Robledo, Gunvant Chaudhari, Ernest Pedapati, Craig Erickson, Carlos Portera-Cailliau, Anubhuti Goel
J Neurosci. 2023 Nov 29; 43(48): 8172–8188. doi: 10.1523/JNEUROSCI.0571-23.2023
PMCID:
PMC10697397
ArticlePDF–2.9M
8.
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death
Deborah A. Hall, Sukriti Nag, Bichun Ouyang, David A. Bennett, Yuanqing Liu, Aisha Ali, Lili Zhou, Elizabeth Berry-Kravis
Mov Disord. Author manuscript; available in PMC 2023 Jul 11.
Published in final edited form as: Mov Disord. 2020 Aug; 35(8): 1448–1456. Published online 2020 May 28. doi: 10.1002/mds.28086
PMCID:
PMC10335806
ArticlePDF–369K
9.
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Genes (Basel) 2023 Apr; 14(4): 852. Published online 2023 Mar 31. doi: 10.3390/genes14040852
PMCID:
PMC10138066
ArticlePDF–1.8M
10.
FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome system
Hideo Shimizu, Hirohiko Hohjoh
Sci Rep. 2023; 13: 1956. Published online 2023 Feb 2. doi: 10.1038/s41598-023-29152-4
PMCID:
PMC9894842
ArticlePDF–3.6M
11.
Impact of Rett Syndrome Mutations on MeCP2 MBD Stability
Tugba G Kucukkal, Ye Yang, Olga Uvarov, Weiguo Cao, Emil Alexov
Biochemistry. Author manuscript; available in PMC 2023 Jan 24.
Published in final edited form as: Biochemistry. 2015 Oct 20; 54(41): 6357–6368. Published online 2015 Oct 8. doi: 10.1021/acs.biochem.5b00790
PMCID:
PMC9871983
ArticlePDF–2.6M
12.
Global prevalence of Rett syndrome: systematic review and meta-analysis
Uarda Petriti, Daniel C. Dudman, Emil Scosyrev, Sandra Lopez-Leon
Syst Rev. 2023; 12: 5. Published online 2023 Jan 16. doi: 10.1186/s13643-023-02169-6
PMCID:
PMC9841621
ArticlePDF–1.3M
13.
Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes
Cecilia Giulivi, Jun Yi Wang, Randi J. Hagerman
Sci Rep. 2022; 12: 21382. Published online 2022 Dec 10. doi: 10.1038/s41598-022-25615-2
PMCID:
PMC9741636
ArticlePDF–8.0M
14.
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency
Anna Adhikari, Fiona K B Buchanan, Timothy A Fenton, David L Cameron, Julian A N M Halmai, Nycole A Copping, Kyle D Fink, Jill L Silverman
Hum Mol Genet. 2022 Sep 15; 31(18): 3032–3050. Published online 2022 Apr 21. doi: 10.1093/hmg/ddac091
PMCID:
PMC9476626
ArticlePDF–1.7M
15.
Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants
Alexander V. Beribisky, Hannes Steinkellner, Sofia Geislberger, Anna Huber, Victoria Sarne, John Christodoulou, Franco Laccone
Protein J. 2022; 41(2): 345–359. Published online 2022 May 12. doi: 10.1007/s10930-022-10054-9
PMCID:
PMC9122891
ArticlePDF–3.0M
16.
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review
Ying Zhang, Yanyan Nie, Yu Mu, Jie Zheng, Xiaowei Xu, Fang Zhang, Jianbo Shu, Yang Liu
Ital J Pediatr. 2022; 48: 73. Published online 2022 May 12. doi: 10.1186/s13052-022-01248-z
PMCID:
PMC9097383
ArticlePDF–1.1M
17.
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis
Bárbara Rodrigues, Ana Gonçalves, Vanessa Sousa, Nuno Maia, Isabel Marques, Emídio Vale-Fernandes, Rosário Santos, António J. A. Nogueira, Paula Jorge
Genes (Basel) 2022 Mar; 13(3): 419. Published online 2022 Feb 25. doi: 10.3390/genes13030419
PMCID:
PMC8951761
ArticlePDF–1.5M
18.
LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart
Ronny Alcalai, Michael Arad, Hiroko Wakimoto, Dor Yadin, Joshua Gorham, Libin Wang, Elia Burns, Barry J. Maron, William C. Roberts, Tetsuo Konno, David A. Conner, Antonio R. Perez‐Atayde, Jon G. Seidman, Christine E. Seidman
J Am Heart Assoc. 2021 Sep 7; 10(17): e018829. Published online 2021 Aug 28. doi: 10.1161/JAHA.120.018829
PMCID:
PMC8649277
ArticlePDF–1.8M
19.
Loss of Christianson Syndrome Na+/H+ Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons
Matthew F. Pescosolido, Qing Ouyang, Judy S. Liu, Eric M. Morrow
J Neurosci. 2021 Nov 3; 41(44): 9235–9256. doi: 10.1523/JNEUROSCI.1244-20.2021
PMCID:
PMC8570832
ArticlePDF–8.2M
20.
Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo
Raed Ibraheim, Phillip W. L. Tai, Aamir Mir, Nida Javeed, Jiaming Wang, Tomás C. Rodríguez, Suk Namkung, Samantha Nelson, Eraj Shafiq Khokhar, Esther Mintzer, Stacy Maitland, Zexiang Chen, Yueying Cao, Emmanouela Tsagkaraki, Scot A. Wolfe, Dan Wang, Athma A. Pai, Wen Xue, Guangping Gao, Erik J. Sontheimer
Nat Commun. 2021; 12: 6267. Published online 2021 Nov 1. doi: 10.1038/s41467-021-26518-y
PMCID:
PMC8560862
ArticlePDF–6.1M

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