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Quoted phrase not found in phrase index: "Intellectual developmental disorder, X-linked 108"
Page 1
Problem behavior in boys with fragile X syndrome.
Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM, Wheeler A. Hatton DD, et al. Am J Med Genet. 2002 Mar 1;108(2):105-16. doi: 10.1002/ajmg.10216. Am J Med Genet. 2002. PMID: 11857559 Review.
Children taking medication differed from boys who were not taking medication on social problems, but not on attention and thought problems. Low adaptability and more autistic characteristics predicted thought problems....
Children taking medication differed from boys who were not taking medication on social problems, but not on attention and thought problems. …
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
We used the exome sequencing to identify the causative gene in the patients and identified a hemizygous missense variant, c.1282T>A (p.W428R), in the p21-activated serine/threonine kinase 3 gene (PAK3), which is associated with X-linked ID. p.W428R is located wit …
We used the exome sequencing to identify the causative gene in the patients and identified a hemizygous missense variant, c.1282T>A (p.W4 …
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
Baker EK, Arora S, Amor DJ, Date P, Cross M, O'Brien J, Simons C, Rogers C, Goodall S, Slee J, Cahir C, Godler DE. Baker EK, et al. J Autism Dev Disord. 2023 Apr;53(4):1682-1692. doi: 10.1007/s10803-021-05193-4. Epub 2021 Jul 22. J Autism Dev Disord. 2023. PMID: 34292487
AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with A …
AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning nega …
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started >8 years. ...
Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 …
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease.
Tanaka H, Amano N, Tanaka K, Katsuki T, Adachi T, Shimozawa N, Kawai T. Tanaka H, et al. Endocr J. 2020 Jun 29;67(6):655-658. doi: 10.1507/endocrj.EJ19-0576. Epub 2020 Feb 26. Endocr J. 2020. PMID: 32101828 Free article.
Adrenoleukodystrophy (ALD) is an X-linked disorder caused by a hemizygous mutation of the ABCD1 gene. ...Early diagnosis enables more rational approaches including the early detection of neurological complications and might improve the prognosis of patients.. …
Adrenoleukodystrophy (ALD) is an X-linked disorder caused by a hemizygous mutation of the ABCD1 gene. ...Early diagnosis enabl …
The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome.
Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas RG, Taylor A, Reiss AL. Hessl D, et al. Pediatrics. 2001 Nov;108(5):E88. doi: 10.1542/peds.108.5.e88. Pediatrics. 2001. PMID: 11694672
RESULTS: Results of multiple regression analyses showed that for boys with fragile X, effectiveness of educational and therapeutic services and parental psychological problems predicted internalizing and externalizing types of problems, while the quality of the home enviro …
RESULTS: Results of multiple regression analyses showed that for boys with fragile X, effectiveness of educational and therapeutic services …
Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.
Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, Nance W. Fisch GS, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2478-89. doi: 10.1002/ajmg.a.31915. Am J Med Genet A. 2007. PMID: 17853466
Except for Down syndrome (DS) and the fragile X mutation (FRAXA), little is known about the longitudinal changes in cognitive-behavioral development in individuals with genetic abnormalities producing learning disabilities (LD) or mental retardation (MR). The purpos …
Except for Down syndrome (DS) and the fragile X mutation (FRAXA), little is known about the longitudinal changes in cognitive-behavioral dev …
Climbing the branches of a family tree: diagnosis of fragile X syndrome.
Visootsak J, Hipp H, Clark H, Berry-Kravis E, Anderson T, Laney D. Visootsak J, et al. J Pediatr. 2014 Jun;164(6):1292-5. doi: 10.1016/j.jpeds.2014.01.051. Epub 2014 Mar 6. J Pediatr. 2014. PMID: 24612903 Free PMC article.
OBJECTIVE: To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS). ...
OBJECTIVE: To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation a …
12 results