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Items: 1 to 20 of 500

1.
Localisation of the MRX3 gene for non-specific X linked mental retardation.
A Gedeon, B Kerr, J Mulley, G Turner
J Med Genet. 1991 Jun; 28(6): 372–377. doi: 10.1136/jmg.28.6.372
PMCID:
PMC1016900
SummaryPage BrowsePDF–965K
2.
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, G Neri
J Med Genet. 1993 Oct; 30(10): 866–869. doi: 10.1136/jmg.30.10.866
PMCID:
PMC1016571
SummaryPage BrowsePDF–818K
3.
SigH stress response mediates killing of Mycobacterium tuberculosis by activating nitronaphthofuran prodrugs via induction of Mrx2 expression
Laura Cioetto-Mazzabò, Francesca Boldrin, Claire Beauvineau, Martin Speth, Alberto Marina, Amine Namouchi, Greta Segafreddo, Mena Cimino, Sandrine Favre-Rochex, Seetha Balasingham, Beatriz Trastoy, Hélène Munier-Lehmann, Gareth Griffiths, Brigitte Gicquel, Marcelo E Guerin, Riccardo Manganelli, Noelia Alonso-Rodríguez
Nucleic Acids Res. 2023 Jan 11; 51(1): 144–165. Published online 2022 Dec 22. doi: 10.1093/nar/gkac1173
PMCID:
PMC9841431
ArticlePDF–4.9M
4.
Rv0579 Is Involved in the Resistance to the TP053 Antitubercular Prodrug
Giorgia Mori, Beatrice Silvia Orena, Laurent R. Chiarelli, Giulia Degiacomi, Olga Riabova, José Camilla Sammartino, Vadim Makarov, Giovanna Riccardi, Maria Rosalia Pasca
Front Microbiol. 2020; 11: 292. Published online 2020 Feb 25. doi: 10.3389/fmicb.2020.00292
PMCID:
PMC7052010
ArticlePDF–569K
5.
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
Denis M. Nyaga, Michael S. Hildebrand, Guillem de Valles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir
Epilepsia Open. 2024 Apr; 9(2): 758–764. Published online 2024 Jan 5. doi: 10.1002/epi4.12887
PMCID:
PMC10984288
ArticlePDF–1.5M
6.
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
7.
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome
Danuta Z. Loesch, Sarah J. Annesley, Nicholas Trost, Minh Q. Bui, Sui T. Lay, Elsdon Storey, Shawn W. De Piazza, Oana Sanislav, Lisa M. Francione, Eleanor M. Hammersley, Flora Tassone, David Francis, Paul R. Fisher
Neurodegener Dis. 2016 Nov 3; 17(1): 22–30. Published online 2016 Sep 8. doi: 10.1159/000446803
PMCID:
PMC10964908
Article
8.
Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan–Herndon–Dudley syndrome
Ángel García-Aldea, Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz, Soledad Bárez-López
Eur Thyroid J. 2024 Apr 1; 13(2): e230241. Prepublished online 2024 Feb 27. Published online 2024 Mar 19. doi: 10.1530/ETJ-23-0241
PMCID:
PMC10959056
ArticlePDF–734K
9.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Am J Med Genet A. 2023 Feb; 191(2): 357–369. Published online 2022 Nov 8. doi: 10.1002/ajmg.a.63027
PMCID:
PMC10952635
ArticlePDF–2.2M
10.
mGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS
Vipendra Kumar, Kwan Young Lee, Anirudh Acharya, Matthew S Babik, Catherine A Christian-Hinman, Justin S Rhodes, Nien-Pei Tsai
EMBO Mol Med. 2024 Mar; 16(3): 506–522. Published online 2024 Feb 19. doi: 10.1038/s44321-024-00038-w
PMCID:
PMC10940663
ArticlePDF–3.6M
11.
Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
Yağmur Ünsal, Gamze Hayran
J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 116–122. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-10-1
PMCID:
PMC10938514
ArticlePDF–426K
12.
NEXMIF基因突变导致智力障碍合并癫痫2例并文献复习
陈 施梦, 邓 小鹿, 熊 娟, 陈 柏谕, 何 芳, 杨 丽芬, 羊 蠡, 彭 镜, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Feb 28; 47(2): 265–270. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210070
PMCID:
PMC10930526
ArticlePDF–762K
13.
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
14.
Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
Abdulfatah M. Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A. Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit
Sci Rep. 2024; 14: 5765. Published online 2024 Mar 8. doi: 10.1038/s41598-024-56253-5
PMCID:
PMC10923806
ArticlePDF–1.2M
15.
The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions
Dimitriya H Garvanska, R Elias Alvarado, Filip Oskar Mundt, Richard Lindqvist, Josephine Kerzel Duel, Fabian Coscia, Emma Nilsson, Kumari Lokugamage, Bryan A Johnson, Jessica A Plante, Dorothea R Morris, Michelle N Vu, Leah K Estes, Alyssa M McLeland, Jordyn Walker, Patricia A Crocquet-Valdes, Blanca Lopez Mendez, Kenneth S Plante, David H Walker, Melanie Bianca Weisser, Anna K Överby, Matthias Mann, Vineet D Menachery, Jakob Nilsson
EMBO Rep. 2024 Feb; 25(2): 902–926. Published online 2024 Jan 2. doi: 10.1038/s44319-023-00043-z
PMCID:
PMC10897489
ArticlePDF–8.2M
16.
Type 1 early infantile epileptic encephalopathy: A case report and literature review
Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi Mehrjardi
Mol Genet Genomic Med. 2024 Feb; 12(2): e2412. Published online 2024 Feb 23. doi: 10.1002/mgg3.2412
PMCID:
PMC10891437
ArticlePDF–822K
17.
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu
BMC Med Genomics. 2024; 17: 54. Published online 2024 Feb 19. doi: 10.1186/s12920-024-01831-9
PMCID:
PMC10875745
ArticlePDF–2.4M
18.
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
19.
Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder
Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng
Mol Genet Genomic Med. 2024 Feb; 12(2): e2389. Published online 2024 Feb 9. doi: 10.1002/mgg3.2389
PMCID:
PMC10858311
ArticlePDF–7.1M
20.
Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation
Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas
Cell Rep. Author manuscript; available in PMC 2024 Feb 9.
Published in final edited form as: Cell Rep. 2023 Jan 31; 42(1): 111942. Published online 2023 Jan 5. doi: 10.1016/j.celrep.2022.111942
PMCID:
PMC10857774
ArticlePDF–4.3M

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