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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 88"
Page 1
Development and validation of a multiplex-PCR assay for X-linked intellectual disability.
Jorge P, Oliveira B, Marques I, Santos R. Jorge P, et al. BMC Med Genet. 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. BMC Med Genet. 2013. PMID: 23914978 Free PMC article.
BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. ...CONCLUSIONS: We developed a robust multiplex-PCR that can be used to screen the mutational hotspot regions of FMR1, AFF2 and ARX …
BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly m …
Sleep and daytime behavior in individuals with Christianson Syndrome.
Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS. Gruber R, et al. Sleep Med. 2022 Jan;89:55-59. doi: 10.1016/j.sleep.2021.11.007. Epub 2021 Nov 20. Sleep Med. 2022. PMID: 34883399
RESULTS: Of the participants, 31% did not obtain the recommended amount of sleep for their age, 43% experienced a prolonged sleep latency, and 88% had a clinical or sub-clinical score for at least one subscale of the Sleep Disturbance Scale for Children (SDSC). ...
RESULTS: Of the participants, 31% did not obtain the recommended amount of sleep for their age, 43% experienced a prolonged sleep latency, a …
Natural history of Danon disease.
Boucek D, Jirikowic J, Taylor M. Boucek D, et al. Genet Med. 2011 Jun;13(6):563-8. doi: 10.1097/GIM.0b013e31820ad795. Genet Med. 2011. PMID: 21415759 Free article.
BACKGROUND: Danon disease is a rare but serious cardiac and skeletal myopathy leading to substantial morbidity and early mortality due to arrhythmia and cardiomyopathy. The X-linked nature of inheritance accounts for reported differences in phenotypic severity betwe …
BACKGROUND: Danon disease is a rare but serious cardiac and skeletal myopathy leading to substantial morbidity and early mortality due to ar …
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S. Engelen M, et al. Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29. Brain. 2014. PMID: 24480483
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. ...As in many X-linked diseases, it was assumed that female carriers remain asymptomatic and only a few studies addressed the phenotype of X-linked adrenoleukodystroph …
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. ...As in many X-linked diseases, it was a …
Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.
Lledó B, Bernabeu R, Ten J, Galán FM, Cioffi L. Lledó B, et al. Fertil Steril. 2007 Nov;88(5):1327-33. doi: 10.1016/j.fertnstert.2007.01.034. Epub 2007 May 11. Fertil Steril. 2007. PMID: 17498713 Free article.
OBJECTIVE: To evaluate the use of multiple displacement amplification (MDA) for whole genome amplification in the preimplantation genetic diagnosis (PGD) of X-linked adrenoleukodystrophy. DESIGN: MDA was used to amplify the whole genome directly from a single blasto …
OBJECTIVE: To evaluate the use of multiple displacement amplification (MDA) for whole genome amplification in the preimplantation genetic di …
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S. van de Stadt SIW, et al. Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. Genes (Basel). 2021. PMID: 34946879 Free PMC article.
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. ...Biochemical studies in fibroblasts provided clearly de …
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the de …
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 …
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. ...Our findings suggest that hemizygous PTCHD1 loss of function caus …
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectu …
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M, Meijer RPP, Gerrits M, Janssen J, Pfundt R, de Leeuw N, Gilissen C, Gardeitchik T, Schouten M, Voermans N, van de Warrenburg B, Kamsteeg EJ. Pennings M, et al. Eur J Hum Genet. 2023 Jun;31(6):654-662. doi: 10.1038/s41431-023-01312-0. Epub 2023 Feb 13. Eur J Hum Genet. 2023. PMID: 36781956 Free PMC article.
Copy number variants (CNVs), i.e. deletion or duplications, explain 10-20% of individuals with multisystemic phenotypes, such as co-existing intellectual disability, but may also have a role in disorders affecting a single system (organ), like neurological disorders …
Copy number variants (CNVs), i.e. deletion or duplications, explain 10-20% of individuals with multisystemic phenotypes, such as co-existing …
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH, Choi JH, Heo SH, Kim GH, Yum MS, Lee BH, Yoo HW. Cho JH, et al. Metab Brain Dis. 2019 Oct;34(5):1335-1340. doi: 10.1007/s11011-019-00441-0. Epub 2019 May 25. Metab Brain Dis. 2019. PMID: 31129767
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. ...
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. ...
27 results