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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.
Other findings included fine motor dyspraxia (92%), attention-deficit/hyperactivity traits, and aggressive behaviors (63%). Six patients (43%) had seizures. Thirteen boys (93%) with PLXNA3 variants showed novel or very low allele frequencies and probable damaging/disease-c …
Other findings included fine motor dyspraxia (92%), attention-deficit/hyperactivity traits, and aggressive behaviors (63%). Six patie …
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833
Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan disease (33.3%, 1/3), megalencephalic leukoencephalopathy with subcortical cysts (32.1%, 9/28), X-linked adrenoleukodystrophy (23.1%, 3/13) …
Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan disease (33.3 …
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 …
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 oro …
BACKGROUND: Hunter syndrome (HS) is an X-linked, recessive, lysosomal storage disease caused by a deficiency of the lysosomal …
Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies.
Bui QM, Hong KN, Kraushaar M, Ma GS, Brambatti M, Kahn AM, Battiha CE, Boynton K, Storm G, Mestroni L, Taylor MRG, DeMaria AN, Adler EA. Bui QM, et al. J Am Heart Assoc. 2021 Dec 7;10(23):e022544. doi: 10.1161/JAHA.121.022544. Epub 2021 Nov 30. J Am Heart Assoc. 2021. PMID: 34845930 Free PMC article.
Herein, we assessed myocardial strain in patients with Danon disease (DD), a rare X-linked autophagic disorder that causes severe cardiac manifestations. ...Conclusions In this cohort of patients with DD, GLS may be a useful assessment of myocardial function and may …
Herein, we assessed myocardial strain in patients with Danon disease (DD), a rare X-linked autophagic disorder that causes sev …
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi FE, et al. J Med Genet. 2008 Dec;45(12):787-93. doi: 10.1136/jmg.2008.058990. Epub 2008 Aug 12. J Med Genet. 2008. PMID: 18697827 Free PMC article.
BACKGROUND: Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approxi …
BACKGROUND: Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked menta …
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. ...Twenty-two different mutations including 8 novel mutations in the ABCD1 gene were identified …
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine tr …
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. . …
The frequency of variants was analyzed, and their subregional effects were predicted using in silico tools. The genotype-phenotype co …
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Am J Hum Genet. 2015 Aug 6;97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166480 Free PMC article.
Here, we report that variants in THOC2, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID). Affected individuals presented with variable degrees of ID and commonly observed features included …
Here, we report that variants in THOC2, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intelle …
29 results