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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 …
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). ...Our findings expand the understanding of the genotype-phenotype relationsh …
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated varia …
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 …
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 …
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.
Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV. Eichler F, et al. Arch Neurol. 2007 May;64(5):659-64. doi: 10.1001/archneur.64.5.659. Arch Neurol. 2007. PMID: 17502464
BACKGROUND: An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination. ...The involvement of the corticospinal tracts is prominent and may at times represent a variant course of progressive inflammat …
BACKGROUND: An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelinat …
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 …
Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy.
Kitahara H, Nawata K, Kinoshita O, Itoda Y, Shintani Y, Fukayama M, Ono M. Kitahara H, et al. Ann Thorac Surg. 2017 Jan;103(1):e39-e41. doi: 10.1016/j.athoracsur.2016.07.022. Ann Thorac Surg. 2017. PMID: 28007270
This is the first report of Danon cardiomyopathy managed with a left ventricular assist device (LVAD). Danon disease is an X-linked dominant inheritance disorder. Heart failure with Danon cardiomyopathy results in a poor prognosis, and heart transplantation i …
This is the first report of Danon cardiomyopathy managed with a left ventricular assist device (LVAD). Danon disease is an X-linke …
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA, Ferrell RE, Sims KB, Fernandez KM, Gemmell BS, Satriano DR, Caster J, Kretzer FL. Mintz-Hittner HA, et al. Ophthalmology. 1996 Dec;103(12):2128-34. doi: 10.1016/s0161-6420(96)30379-5. Ophthalmology. 1996. PMID: 9003348
Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular ectopia) are allelic disorders. ...If any retinal abnormality were identified, fu …
Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X- …
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 …
Menkes disease after copper histidine replacement therapy: case report.
George DH, Casey RE. George DH, et al. Pediatr Dev Pathol. 2001 May-Jun;4(3):281-8. doi: 10.1007/s100240010142. Pediatr Dev Pathol. 2001. PMID: 11370266
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressive disorders of multiple systems, especially the central nervous system (CNS) and connective tissue, and death by 3 years of age. ...
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressiv …