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101 results

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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. 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 …
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 …
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
METHOD: We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID). RESULTS: We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants …
METHOD: We ascertained exome or genome sequences of individuals with rare familial or sporadic forms 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 …
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 …
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 …
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 …
Inborn errors of trace element metabolism.
Danks DM. Danks DM. Clin Endocrinol Metab. 1985 Aug;14(3):591-615. doi: 10.1016/s0300-595x(85)80008-6. Clin Endocrinol Metab. 1985. PMID: 3905081 Review.
Effects due to copper deficiency are seen in Menkes' disease, in X-linked cutis laxa and in the X-linked series of mottled mutants in the mouse. ...
Effects due to copper deficiency are seen in Menkes' disease, in X-linked cutis laxa and in the X-linked series …
Borjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE. Jain V, et al. Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14. Eur J Hum Genet. 2023. PMID: 37704779 Free PMC article.
Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. ...We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. A …
Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused b …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. Of 105 si …
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one m …
101 results