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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 103"
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.
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked …
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professiona …
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomple …
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal gen …
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Zhong L, Gao X, Wang Y, Qiu W, Han L, Gu X, Zhang H. Zhong L, et al. Clin Genet. 2023 Jun;103(6):655-662. doi: 10.1111/cge.14329. Epub 2023 Mar 22. Clin Genet. 2023. PMID: 36945845
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS gene, which encodes iduronate 2-sulfatase (IDS). ...
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated varia …
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490
Rett syndrome (RTT) is a clinically defined disorder that describes a subset of patients with mutations in the X-linked MECP2 gene. However, there is a high degree of variability in the clinical phenotypes produced by mutations in MECP2, even amongst classical RTT p …
Rett syndrome (RTT) is a clinically defined disorder that describes a subset of patients with mutations in the X-linked MECP2 …
Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination?
Schneider JF, Il'yasov KA, Boltshauser E, Hennig J, Martin E. Schneider JF, et al. AJNR Am J Neuroradiol. 2003 May;24(5):819-24. AJNR Am J Neuroradiol. 2003. PMID: 12748077 Free PMC article.
BACKGROUND AND PURPOSE: Diffusion tensor imaging measures the proton diffusivity and preferential orientation of the diffusion tensor. X-linked adrenoleukodystrophy is a demyelinating disease for which therapy depends on the onset and extension of demyelination. We …
BACKGROUND AND PURPOSE: Diffusion tensor imaging measures the proton diffusivity and preferential orientation of the diffusion tensor. X …
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. Delaunoy J, et al. Hum Mutat. 2001 Feb;17(2):103-16. doi: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N. Hum Mutat. 2001. PMID: 11180593
Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor retardation, characteristic facial and digital abnormalities, and progressive skeletal deformations. .. …
Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked d …
Does attention constrain developmental trajectories in fragile x syndrome? A 3-year prospective longitudinal study.
Cornish K, Cole V, Longhi E, Karmiloff-Smith A, Scerif G. Cornish K, et al. Am J Intellect Dev Disabil. 2012 Mar;117(2):103-20. doi: 10.1352/1944-7558-117.2.103. Am J Intellect Dev Disabil. 2012. PMID: 22515826
Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys w …
Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study …
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J, Wang X, Huang D, Qi Y, Xu L, Shao Y. Liu J, et al. Medicine (Baltimore). 2024 Apr 19;103(16):e37874. doi: 10.1097/MD.0000000000037874. Medicine (Baltimore). 2024. PMID: 38640304 Free PMC article.
RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. ...Findings enabled genetic counseling for at-risk relatives regarding this X-linked disorder....
RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty aci …
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein.
Pan H, Zhu F, Chen K, Zhang Y. Pan H, et al. J Genet. 2024;103:14. J Genet. 2024. PMID: 38562040 Free article.
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily manifests as intellectual disability (ID) and language delay, and may be accompanied …
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-l …
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
Vitale E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G. Vitale E, et al. Am J Med Genet. 2001 Sep 15;103(1):1-8. doi: 10.1002/ajmg.1495. Am J Med Genet. 2001. PMID: 11562927
We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeleta …
We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The …
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