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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 93"
Page 1
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.
METHODS: Corresponding nucleotide positions for 1533 different alterations classified as pathogenic or likely pathogenic identified on targeted NGS multi-gene panel tests in our laboratory were interrogated in data from 100 randomly-selected clinical WES samples to quantify the s …
METHODS: Corresponding nucleotide positions for 1533 different alterations classified as pathogenic or likely pathogenic identified on targe …
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Liang Q, Liu Y, Liu Y, Duan R, Meng W, Zhan J, Xia J, Mao A, Liang D, Wu L. Liang Q, et al. Clin Chem. 2022 Dec 6;68(12):1529-1540. doi: 10.1093/clinchem/hvac154. Clin Chem. 2022. PMID: 36171182
BACKGROUND: Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on FMR1 CGG expansions and fail to identify AGG interruptions, rare intragenic variants …
BACKGROUND: Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. C …
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
Zablotskaya A, Van Esch H, Verstrepen KJ, Froyen G, Vermeesch JR. Zablotskaya A, et al. BMC Med Genomics. 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7. BMC Med Genomics. 2018. PMID: 30567555 Free PMC article.
BACKGROUND: The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read massive parallel sequencing appr …
BACKGROUND: The etiology of more than half of all patients with X-linked intellectual disability remains elusive …
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.
Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O. Sevin C, et al. Orphanet J Rare Dis. 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. Orphanet J Rare Dis. 2023. PMID: 37563635 Free PMC article.
BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. ...Among patients without allo-HSCT, five …
BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of l …
Acute presentation of childhood adrenoleukodystrophy.
Stephenson DJ, Bezman L, Raymond GV. Stephenson DJ, et al. Neuropediatrics. 2000 Dec;31(6):293-7. doi: 10.1055/s-2000-12952. Neuropediatrics. 2000. PMID: 11508547
X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. ...
X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal corte …
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Additional features, such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. ...In the present paper, we report five new patients …
Additional features, such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, ne …
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A, Redin C, Mandel JL. Piton A, et al. Am J Hum Genet. 2013 Aug 8;93(2):368-83. doi: 10.1016/j.ajhg.2013.06.013. Epub 2013 Jul 18. Am J Hum Genet. 2013. PMID: 23871722 Free PMC article.
Because of the unbalanced sex ratio (1.3-1.4 to 1) observed in intellectual disability (ID) and the identification of large ID-affected families showing X-linked segregation, much attention has been focused on the genetics of X-linked ID …
Because of the unbalanced sex ratio (1.3-1.4 to 1) observed in intellectual disability (ID) and the identification of large ID …
Identification of female carriers of adrenoleukodystrophy.
Moser HW, Moser AE, Trojak JE, Supplee SW. Moser HW, et al. J Pediatr. 1983 Jul;103(1):54-9. doi: 10.1016/s0022-3476(83)80775-6. J Pediatr. 1983. PMID: 6864396
The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of …
The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heteroz …
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC. Kaler SG, et al. J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652413 Free PMC article.
Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase. Three prior surveys indicated clinical seizures and electroencephalographic (EEG) abn …
Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations …
20 results