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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 53"
Page 1
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.
BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity. ...A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutations. …
BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogenei …
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Smogavec M, et al. J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20. J Med Genet. 2016. PMID: 27439707
BACKGROUND: Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causa …
BACKGROUND: Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discu …
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H. Wen J, et al. Am J Med Genet A. 2022 Jun;188(6):1728-1738. doi: 10.1002/ajmg.a.62693. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35199448
Chromosomal microarray analysis using single nucleotide polymorphism probes can detect regions of homozygosity (ROH). This confers a potential utility in revealing autosomal recessive (AR) diseases and uniparental disomy (UPD). Results of genetic testing among pedia …
Chromosomal microarray analysis using single nucleotide polymorphism probes can detect regions of homozygosity (ROH). This confers a potenti …
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S. Rafiullah R, et al. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13. J Med Genet. 2016. PMID: 26566883
BACKGROUND: Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%-3% of the population worldwide. ...In our study we investigated a large consanguineous family from Baluchistan, Pakistan, comprising seven affected individuals with a severe form …
BACKGROUND: Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%-3% of the population worldwide. ...In o …
Pathogenic factors in idiopathic mental retardation.
Costeff H, Cohen BE, Weller L, Kleckner H. Costeff H, et al. Dev Med Child Neurol. 1981 Aug;23(4):484-93. doi: 10.1111/j.1469-8749.1981.tb02022.x. Dev Med Child Neurol. 1981. PMID: 7196853
Since the control group in this study was composed mainly of genetically retarded patients, the associations observed seem likely to be related to the causes of retardation rather than simply being the effects of a damaged fetus. ...Complications of pregnancy, labor, and i …
Since the control group in this study was composed mainly of genetically retarded patients, the associations observed seem likely to …
Cutis laxa in Kabuki make-up syndrome.
Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. Vaccaro M, et al. J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S247-51. doi: 10.1016/j.jaad.2005.02.007. J Am Acad Dermatol. 2005. PMID: 16227101
It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority …
It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked …
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC. Kwitek-Black AE, et al. Nat Genet. 1993 Dec;5(4):392-6. doi: 10.1038/ng1293-392. Nat Genet. 1993. PMID: 8298649
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. ...Pairwise analysis established linkage with the locus D16S408 with no recombination and a lod score of …
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, p …