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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability 14"
Page 1
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. ...This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to ident …
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene …
X-linked mental retardation.
Lisik MZ, Sieron AL. Lisik MZ, et al. Med Sci Monit. 2008 Nov;14(11):RA221-9. Med Sci Monit. 2008. PMID: 18971887 Review.
More than 200 XLMR conditions have been reported and 76 genes has been linked to them. XLMR conditions are commonly subdivided into syndromic and nonsyndromic forms on the basis of clinical presentation. The distinction between these forms of XLMR is gradually becom …
More than 200 XLMR conditions have been reported and 76 genes has been linked to them. XLMR conditions are commonly subdivided into …
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Steele JL, et al. Pediatr Neurol. 2022 Jan;126:65-73. doi: 10.1016/j.pediatrneurol.2021.10.008. Epub 2021 Oct 18. Pediatr Neurol. 2022. PMID: 34740135 Free article.
In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] years) with maternally inherited hemizygous PLXNA3 variants and autism/ID ranging from mild to severe. ...CONCLUSIONS: We report 14 boys with ma …
In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] year …
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X. Bozarth XL, et al. Genes (Basel). 2023 Mar 31;14(4):852. doi: 10.3390/genes14040852. Genes (Basel). 2023. PMID: 37107610 Free PMC article.
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retard …
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gen …
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. ...Thirteen patients had mild to severe intellectual disability. This femal …
BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability …
FMR2 function: insight from a mouse knockout model.
Gu Y, Nelson DL. Gu Y, et al. Cytogenet Genome Res. 2003;100(1-4):129-39. doi: 10.1159/000072847. Cytogenet Genome Res. 2003. PMID: 14526173 Review.
FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions based on the human disease. ...The Lilli gene suggests possible functions for FMR2 (and related genes) in humans and mice, bu …
FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 fu …
Urological Problems in Patients with Menkes Disease.
Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI. Kim MY, et al. J Korean Med Sci. 2018 Dec 26;34(1):e4. doi: 10.3346/jkms.2019.34.e4. eCollection 2019 Jan 7. J Korean Med Sci. 2018. PMID: 30618512 Free PMC article.
BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. ...
BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper m …
Aspects of Attention in Rett Syndrome.
Rose SA, Djukic A, Jankowski JJ, Feldman JF, Rimler M. Rose SA, et al. Pediatr Neurol. 2016 Apr;57:22-8. doi: 10.1016/j.pediatrneurol.2016.01.015. Epub 2016 Jan 21. Pediatr Neurol. 2016. PMID: 26996403
BACKGROUND: We sought to examine fundamental aspects of attention in children with Rett syndrome, a severely disabling neurodevelopmental disorder caused by spontaneous mutations in the X-linked MECP2 gene. ...The Rett syndrome group spent considerable …
BACKGROUND: We sought to examine fundamental aspects of attention in children with Rett syndrome, a severely disabling neurodevelopme …
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. van Geest FS, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. J Clin Endocrinol Metab. 2022. PMID: 34679181 Free PMC article.
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
Akahoshi K, Nakagawa E, Goto YI, Inoue K. Akahoshi K, et al. BMC Med Genomics. 2023 Mar 6;16(1):43. doi: 10.1186/s12920-023-01465-3. BMC Med Genomics. 2023. PMID: 36879246 Free PMC article.
BACKGROUND: X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. ...CASE PRESENTATION: The boy presented with a mild to moderate regressive intellect …
BACKGROUND: X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X …
23 results