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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 41"
Page 1
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protei …
Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) d …
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% …
Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan diseas …
X-linked Adrenoleukodystrophy, The Tunisian Experience.
Nasrallah F, Kraoua I, Zidi W, Omar S, Sanhaji H, Feki M, Ben Youssef IT, Kaabachi N. Nasrallah F, et al. Clin Lab. 2015;61(10):1531-6. doi: 10.7754/clin.lab.2015.150318. Clin Lab. 2015. PMID: 26642716
BACKGROUND: X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty acids. ...For the visual diagnostic of patients, the Scatter plot was a reliable method for the diagnostic patterns of very long chain fatty acids of pa …
BACKGROUND: X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty acids. ...Fo …
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV. Moser HW, et al. J Mol Neurosci. 2007 Sep;33(1):105-13. doi: 10.1007/s12031-007-0041-4. J Mol Neurosci. 2007. PMID: 17901554 Review.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumulation of saturated very long chain fatty acids (SVLCFA). ...
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumul …
Mutations in GDI1 and X-linked non-specific mental retardation.
Dell'Amico MC, Vivani P, Miccoli M, Cecconi M, Baggiani A. Dell'Amico MC, et al. Ann Ig. 2011 Jan-Feb;23(1):71-9. Ann Ig. 2011. PMID: 21736009
It is estimated that from 1 to 3% of the general population is affected with MR. MR or "intellectual disability" can be caused by genetic as well as environmental causes that act on the development and functioning of the CNS prenatally, perinatally or postnatally. . …
It is estimated that from 1 to 3% of the general population is affected with MR. MR or "intellectual disability" can be caused …
X-linked mental retardation (XLMR): from clinical conditions to cloned genes.
Chiurazzi P, Tabolacci E, Neri G. Chiurazzi P, et al. Crit Rev Clin Lab Sci. 2004;41(2):117-58. doi: 10.1080/10408360490443013. Crit Rev Clin Lab Sci. 2004. PMID: 15270552 Review.
X-linked mental retardation (XLMR) is a heterogenous set of conditions responsible for a large proportion of inherited mental retardation. ...Furthermore, different mutations in the same XLMR gene may account for diseases of increasing severity, but can also cause d …
X-linked mental retardation (XLMR) is a heterogenous set of conditions responsible for a large proportion of inherited mental …
Natural history of a cohort of ABCD1 variant female carriers.
Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M. Schirinzi T, et al. Eur J Neurol. 2019 Feb;26(2):326-332. doi: 10.1111/ene.13816. Epub 2018 Nov 9. Eur J Neurol. 2019. PMID: 30295399
BACKGROUND AND PURPOSE: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the disease is well characterized in men, the condition remains to be fully clarified in women carrying ATP binding cassette subfamily D member 1 ( …
BACKGROUND AND PURPOSE: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the dis …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS… See abstract for full author list ➔ Pinto D, et al. Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24. Am J Hum Genet. 2014. PMID: 24768552 Free PMC article.
We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dom …
We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1. …
Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.
Sihombing NRB, Cai S, Wong DPW, Guan M, Chong SS, Faradz SMH, Winarni TI. Sihombing NRB, et al. Singapore Med J. 2021 Mar;62(3):143-148. doi: 10.11622/smedj.2020009. Epub 2020 Jan 28. Singapore Med J. 2021. PMID: 31989181 Free PMC article.
INTRODUCTION: Fragile X syndrome (FXS) is the most prevalent X-linked intellectual disability (ID) and a leading genetic cause of autism, characterised by cognitive and behavioural impairments. ...METHODS: A total of 109 institutionalised individuals a …
INTRODUCTION: Fragile X syndrome (FXS) is the most prevalent X-linked intellectual disability (ID) and a leading …
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J. Cheillan D, et al. Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96. Orphanet J Rare Dis. 2012. PMID: 23234264 Free PMC article.
Six GAMT [N-guanidinoacetatemethyltransferase (EC 2.1.1.2)] and 10 X-linked creatine transporter (SLC6A8) but no AGAT (GATM) [L-arginine/glycine amidinotransferase (EC 2.1.4.1)] deficient patients were identified in this manner. ...The only SLC6A8-deficient female p …
Six GAMT [N-guanidinoacetatemethyltransferase (EC 2.1.1.2)] and 10 X-linked creatine transporter (SLC6A8) but no AGAT (GATM) [ …
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