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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability 14"
Page 1
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical and radiological features, at least help to order the pretest probabilities. The X-linked disorder, fragile-X tremor ataxia …
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical a …
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 …
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. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, A …
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene …
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. ...These patients were initially refer …
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability …
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Gonzalez JN, Goldman S, Carter MT, Bain JM. Gonzalez JN, et al. Genes (Basel). 2023 May 26;14(6):1154. doi: 10.3390/genes14061154. Genes (Basel). 2023. PMID: 37372334 Free PMC article.
Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. ...Other genetic etiologies have emerged with similar clinical characteristics to RTT Syndrome. Our team has characterized HNRNPH2-related neurodevelopmen …
Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. ...Other genetic etio …
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mohamed S, He QQ, Singh AA, Ferro V. Mohamed S, et al. Adv Carbohydr Chem Biochem. 2020;77:71-117. doi: 10.1016/bs.accb.2019.09.001. Epub 2019 Oct 26. Adv Carbohydr Chem Biochem. 2020. PMID: 33004112 Review.
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disease caused by mutations of the gene encoding the lysosomal enzyme iduronate-2-sulfatase (IDS), the role of which is to hydrolytically remove O-linked sulfates fro …
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disease caused by mutation …
Some problems in the genetics of X-linked mental retardation.
Tariverdian G, Vogel F. Tariverdian G, et al. Cytogenet Cell Genet. 2000;91(1-4):278-84. doi: 10.1159/000056857. Cytogenet Cell Genet. 2000. PMID: 11173869 Review.
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...The non-syndromal types do not show such specific features; here, the X-linked mode of inheritance is the only indicator. ...
X-linked mental retardation has recently become one of the most interesting genetic anomalies. ...The non-syndromal typ …
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unkn …
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response ha …
Comparison of evoked potentials across four related developmental encephalopathies.
Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Saby JN, et al. J Neurodev Disord. 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. J Neurodev Disord. 2023. PMID: 36870948 Free PMC article.
Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 defi …
Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication …
Peroxisomal disorders.
Raymond GV. Raymond GV. Curr Opin Neurol. 2001 Dec;14(6):783-7. doi: 10.1097/00019052-200112000-00017. Curr Opin Neurol. 2001. PMID: 11723389
The understanding of peroxisomal assembly is important because peroxisomal biogenesis disorders such as Zellweger syndrome result from these defects, and the resulting failure causes widespread deficiencies in peroxisomal biochemical function. X-linked adreno …
The understanding of peroxisomal assembly is important because peroxisomal biogenesis disorders such as Zellweger syndrome result fro …
63 results