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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 91"
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 …
Genetic analysis of intellectual disability and autism.
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M. Chiurazzi P, et al. Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. Acta Biomed. 2020. PMID: 33170170 Free PMC article. Review.
Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and autism is caused by genetic factors. The aim of this review is to summarize monogenic conditions characterized by intellectual disabil …
Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and auti …
Restless Legs Syndrome in X-linked adrenoleukodystrophy.
Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS. Winkelman JW, et al. Sleep Med. 2022 Mar;91:31-34. doi: 10.1016/j.sleep.2022.02.008. Epub 2022 Feb 16. Sleep Med. 2022. PMID: 35245789 Free PMC article.
OBJECTIVE/BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, and pain contribute to daily disability. We sought to investigate the prevalence an …
OBJECTIVE/BACKGROUND: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and bala …
Genetics of early onset cognitive impairment.
Ropers HH. Ropers HH. Annu Rev Genomics Hum Genet. 2010;11:161-87. doi: 10.1146/annurev-genom-082509-141640. Annu Rev Genomics Hum Genet. 2010. PMID: 20822471 Review.
Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, it has received very little public attention. ...Cytogenetically detectable and submicroscopic chromosomal rearrangements account for approxi …
Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, i …
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB, Mogensen M, Horn N. Møller LB, et al. Biochimie. 2009 Oct;91(10):1273-7. doi: 10.1016/j.biochi.2009.05.011. Epub 2009 Jun 6. Biochimie. 2009. PMID: 19501626 Review.
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting P1B-type ATPase. ...
Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, …
Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes.
Unterberger U, Regelsberger G, Sundt R, Bernheimer H, Voigtländer T. Unterberger U, et al. Clin Biochem. 2007 Sep;40(13-14):1037-44. doi: 10.1016/j.clinbiochem.2007.04.015. Epub 2007 May 3. Clin Biochem. 2007. PMID: 17524384
OBJECTIVES: Our aim was to replace cultured skin fibroblasts in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) by peripheral blood cells. ...RESULTS: All X-ALD patients were distinguishable from controls by VLCFA analysis in leukocytes. 91.7% of heter …
OBJECTIVES: Our aim was to replace cultured skin fibroblasts in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) by peri …
Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S, van Karnebeek CD. Stockler-Ipsiroglu S, et al. Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192512 Review.
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and …
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatin …
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R. Reichert SC, et al. Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. Clin Genet. 2020. PMID: 32335897
The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2-related X-linked intellectual disability, Bain type (MRXSB), specifically inte …
The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms …
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. . …
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A. Mallack EJ, et al. J Inherit Metab Dis. 2021 May;44(3):728-739. doi: 10.1002/jimd.12356. Epub 2021 Jan 9. J Inherit Metab Dis. 2021. PMID: 33373467 Free PMC article.
BACKGROUND: Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). ...RESULTS: One hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7 …
BACKGROUND: Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCAL …
31 results