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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 89"
Page 1
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK. Shchubelka K, et al. J Neurodev Disord. 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. J Neurodev Disord. 2024. PMID: 38539105 Free PMC article.
BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. ...METHODS: The study retrospective …
BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of t …
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A. Turk BR, et al. JAMA Neurol. 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. JAMA Neurol. 2017. PMID: 28288261 Free PMC article.
IMPORTANCE: X-linked adrenoleukodystrophy (ALD) may switch phenotype to the fatal cerebral form (ie, cerebral ALD [cALD]), the cause of which is unknown. ...We are counting each patient as 1 sample in our study. Because adrenoleukodystrophy is an X-linked …
IMPORTANCE: X-linked adrenoleukodystrophy (ALD) may switch phenotype to the fatal cerebral form (ie, cerebral ALD [cALD]), the …
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Muenzer J, et al. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. Orphanet J Rare Dis. 2023. PMID: 37974184 Free PMC article.
BACKGROUND: Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic disease). ...No clear subgr …
BACKGROUND: Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients …
Girls with fragile X syndrome: physical and neurocognitive status and outcome.
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W. Hagerman RJ, et al. Pediatrics. 1992 Mar;89(3):395-400. Pediatrics. 1992. PMID: 1741210
The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. ...Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behav …
The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. ...Evaluati …
Skewed X inactivation in Lesch-Nyhan disease carrier females.
Torres RJ, Puig JG. Torres RJ, et al. J Hum Genet. 2017 Dec;62(12):1079-1083. doi: 10.1038/jhg.2017.88. Epub 2017 Sep 14. J Hum Genet. 2017. PMID: 28904386
X chromosome inactivation (XCI) ratios of normal females can range from a highly skewed ratio of 0:100 to a 50:50 ratio. In several X-linked disorders, female carriers present skewed X inactivation. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is …
X chromosome inactivation (XCI) ratios of normal females can range from a highly skewed ratio of 0:100 to a 50:50 ratio. In several X …
Expanding the clinical picture of the MECP2 Duplication syndrome.
Lim Z, Downs J, Wong K, Ellaway C, Leonard H. Lim Z, et al. Clin Genet. 2017 Apr;91(4):557-563. doi: 10.1111/cge.12814. Epub 2016 Jul 21. Clin Genet. 2017. PMID: 27247049
Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. ...
Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems an …
Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.
Natarajan A, Christopher R, Netravathi M, Bhat MD, Chandra SR. Natarajan A, et al. Clin Chim Acta. 2019 Aug;495:167-173. doi: 10.1016/j.cca.2019.04.059. Epub 2019 Apr 10. Clin Chim Acta. 2019. PMID: 30980791
BACKGROUND: Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD). Our aim was to develop a flow injection ionization-tandem mass spectrometry (FIA-MS/MS) method for estimating a panel of LPCs (C20:0-C26: …
BACKGROUND: Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD …
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF. Gigarel N, et al. Hum Genet. 2004 Feb;114(3):298-305. doi: 10.1007/s00439-003-1063-9. Epub 2003 Dec 12. Hum Genet. 2004. PMID: 14673643
The most telomeric part of the X-chromosome long arm is a highly gene-rich region encompassing disease genes such as haemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti. ...Single-cell amplification ef …
The most telomeric part of the X-chromosome long arm is a highly gene-rich region encompassing disease genes such as haemophilia A, …
Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy.
Kühl JS, Kupper J, Baqué H, Ebell W, Gärtner J, Korenke C, Spors B, Steffen IG, Strauss G, Voigt S, Weschke B, Weddige A, Köhler W, Steinfeld R. Kühl JS, et al. JAMA Netw Open. 2018 Jul 6;1(3):e180769. doi: 10.1001/jamanetworkopen.2018.0769. JAMA Netw Open. 2018. PMID: 30646031 Free PMC article.
IMPORTANCE: Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked adrenoleukodystrophy. However, the pretransplant conditions, demyelination patterns, complications, and neurological outcomes of this therapy …
IMPORTANCE: Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked ad …
Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.
Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC. Cheng H, et al. J Mol Cell Cardiol. 2019 Oct;135:22-30. doi: 10.1016/j.yjmcc.2019.07.012. Epub 2019 Jul 27. J Mol Cell Cardiol. 2019. PMID: 31362019 Free PMC article.
Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder associated with respiratory abnormalities and, in up to ~40% of patients, with prolongation of the cardiac QT(c) interval. ...
Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder associated with respiratory abnormalities and, in up to ~40% of …
19 results