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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 63"
Page 1
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Steele JL, et al. Pediatr Neurol. 2022 Jan;126:65-73. doi: 10.1016/j.pediatrneurol.2021.10.008. Epub 2021 Oct 18. Pediatr Neurol. 2022. PMID: 34740135 Free article.
In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] years) with maternally inherited hemizygous PLXNA3 variants and autism/ID ranging from mild to severe. ...CONCLUSIONS: We report 14 boys with ma …
In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] year …
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. ...Positive family history was present in 31% (41/130) of patients. Developmental delay and intellectual disability were the ma …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
Clinical assessment of upper airway and its complications in Hunter syndrome.
Iijima M, Hirano D, Yokoi K, Kobayashi H, Fujiwara M, Ida H, Oishi K. Iijima M, et al. Pediatr Int. 2021 May;63(5):543-549. doi: 10.1111/ped.14467. Epub 2021 Mar 16. Pediatr Int. 2021. PMID: 32935418
BACKGROUND: Hunter syndrome (HS) is an X-linked, recessive, lysosomal storage disease caused by a deficiency of the lysosomal enzyme, iduronate sulfatase (IDS). ...The Modified Mallampati classification (MMC) score, used to predict difficulties for oropharyng …
BACKGROUND: Hunter syndrome (HS) is an X-linked, recessive, lysosomal storage disease caused by a deficiency of the lysosomal …
Investigation of FRMPD4 variants associated with X-linked epilepsy.
Li RK, Li H, Tian MQ, Li Y, Luo S, Liang XY, Liu WH, Li BM, Shi XQ, Li J, Li B, Shu XM; China Epilepsy Gene 1.0 Project. Li RK, et al. Seizure. 2024 Mar;116:45-50. doi: 10.1016/j.seizure.2023.05.014. Epub 2023 Jun 10. Seizure. 2024. PMID: 37330374
The frequency of variants was analyzed, and their subregional effects were predicted using in silico tools. The genotype-phenotype correlation of the newly defined causative genes and protein stability were analyzed using I-Mutant V.3.0 and Grantham scores. ...Patie …
The frequency of variants was analyzed, and their subregional effects were predicted using in silico tools. The genotype-phenotype co …
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy.
de Beer M, Engelen M, van Geel BM. de Beer M, et al. Neurology. 2014 Dec 9;83(24):2227-31. doi: 10.1212/WNL.0000000000001074. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378668
OBJECTIVE: To study the frequency of additional cerebral demyelination in Dutch patients with adrenomyeloneuropathy (AMN). METHODS: Consecutive patients with AMN from the Dutch X-linked adrenoleukodystrophy cohort without cerebral demyelination on MRI at inclusion, …
OBJECTIVE: To study the frequency of additional cerebral demyelination in Dutch patients with adrenomyeloneuropathy (AMN). METHODS: Consecut …
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF. Chu SS, et al. World J Pediatr. 2015 Nov;11(4):366-73. doi: 10.1007/s12519-015-0044-0. Epub 2015 Oct 11. World J Pediatr. 2015. PMID: 26454440
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. ...The amino acid residues of three novel missense mutations in eight species were highly conse …
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine tr …
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.
Blüschke G, Nüsken KD, Schneider H. Blüschke G, et al. Early Hum Dev. 2010 Jul;86(7):397-9. doi: 10.1016/j.earlhumdev.2010.04.008. Epub 2010 Jun 1. Early Hum Dev. 2010. PMID: 20682465
RESULTS: 63% of parents returned completed surveys, identifying 57% of children as patients with X-linked HED and 20% as patients with autosomal HED or HED of unknown origin. ...In 94% of all HED patients, episodes of unexplained fever were observed during the first …
RESULTS: 63% of parents returned completed surveys, identifying 57% of children as patients with X-linked HED and 20% as patie …
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J. Ilie A, et al. Mol Neurodegener. 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9. Mol Neurodegener. 2016. PMID: 27590723 Free PMC article.
BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. ...METHODS: Here, we examined the molecular and cellu …
BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the h …
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. Guerra JVS, et al. Eur J Med Genet. 2020 Mar;63(3):103737. doi: 10.1016/j.ejmg.2019.103737. Epub 2019 Aug 13. Eur J Med Genet. 2020. PMID: 31419599
Mutations in KDM5C (lysine (K)-specific demethylase 5C) were causally associated with up to 3% of X-linked intellectual disability (ID) in males. By exome and Sanger sequencing, a novel frameshift KDM5C variant, predicted to eliminate the JmjC c …
Mutations in KDM5C (lysine (K)-specific demethylase 5C) were causally associated with up to 3% of X-linked intellectual …
23 results