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2010 1
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Page 1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. ...
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. ...
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE. Lubs HA, et al. Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Am J Hum Genet. 2012. PMID: 22482801 Free PMC article. Review.
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. ...
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. ...
The neurobiology of X-linked intellectual disability.
Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M. Bassani S, et al. Neuroscientist. 2013 Oct;19(5):541-52. doi: 10.1177/1073858413493972. Epub 2013 Jul 2. Neuroscientist. 2013. PMID: 23820068 Review.
X-linked intellectual disability (XLID) affects 1% to 3% of the population. ...
X-linked intellectual disability (XLID) affects 1% to 3% of the population. ...
X-linked intellectual disability: Phenotypic expression in carrier females.
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G. Ziats CA, et al. Clin Genet. 2020 Mar;97(3):418-425. doi: 10.1111/cge.13667. Epub 2019 Nov 24. Clin Genet. 2020. PMID: 31705537
To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds …
To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), w …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies hav …
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual …
Rabs, Membrane Dynamics, and Parkinson's Disease.
Tang BL. Tang BL. J Cell Physiol. 2017 Jul;232(7):1626-1633. doi: 10.1002/jcp.25713. Epub 2016 Dec 20. J Cell Physiol. 2017. PMID: 27925204 Review.
On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B were shown to underlie X-linked intellectual disability (ID) in male patients with early-onset PD. ...
On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B were shown to underlie X-linked int …
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI. Ibarluzea N, et al. Genes (Basel). 2020 Jan 2;11(1):51. doi: 10.3390/genes11010051. Genes (Basel). 2020. PMID: 31906484 Free PMC article.
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. ...
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in male …
Genetic investigation for adults with intellectual disability: opportunities and challenges.
Baker K, Raymond FL, Bass N. Baker K, et al. Curr Opin Neurol. 2012 Apr;25(2):150-8. doi: 10.1097/WCO.0b013e328351820e. Curr Opin Neurol. 2012. PMID: 22357217 Review.
Many single gene causes of intellectual disability have been identified, most notably for X-linked intellectual disability. Ascribing causality, determination of recurrence risk, and prognostication for rare or unique variants remain challenging. ...
Many single gene causes of intellectual disability have been identified, most notably for X-linked intellectual disa …
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X-linked intellectual disability disorder 105 (XLID105, #300984; OMIM) …
Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cogniti …
Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.
Lewerissa EI, Nadif Kasri N, Linda K. Lewerissa EI, et al. Autophagy. 2024 Jan;20(1):15-28. doi: 10.1080/15548627.2023.2250217. Epub 2023 Sep 6. Autophagy. 2024. PMID: 37674294 Free PMC article. Review.
Thereby, we want to highlight autophagy as a candidate key hub mechanism in NDD-related chromatinopathies.Abbreviations: ADNP: activity dependent neuroprotector homeobox; ASD: autism spectrum disorder; ATG: AutTophaGy related; CpG: cytosine-guanine dinucleotide; DNMT: DNA methylt …
Thereby, we want to highlight autophagy as a candidate key hub mechanism in NDD-related chromatinopathies.Abbreviations: ADNP: activity depe …
44 results