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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.
A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutations. In addition, we used high-throughput resequencing to confirm new candidate genes in 765 persons with intellectual disability (a confi …
A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutations. In addi …
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F. Bohlega S, et al. Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 31726291
Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensorineural hearing loss (30%). Based on the Neurological Impairment Scale (NIS), the disease was recognized to have two distinct patterns. ...The mean age …
Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensorineural hea …
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 …
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
Durand CM, Angelini C, Michaud V, Delleci C, Coupry I, Goizet C, Trimouille A. Durand CM, et al. BMC Neurol. 2022 Feb 12;22(1):53. doi: 10.1186/s12883-022-02553-0. BMC Neurol. 2022. PMID: 35151251 Free PMC article.
Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance. The objectives of the study were to determine the genetic etiology of a patient with early onset spora …
Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autoso …
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
Several complications and diseases of pregnancy, delivery, and infancy have been found to be more prevalent among the mentally retarded than among normal children. In the course of reviewing 904 families of retarded children examined at the Tel Hashomer Assessment Center f …
Several complications and diseases of pregnancy, delivery, and infancy have been found to be more prevalent among the mentally retarded than …
Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability.
Gürakan F, Baysoy G, Wedenoja S, Uslu N, Ozen H, Ozaltin F, Höglund P. Gürakan F, et al. Turk J Pediatr. 2011 Mar-Apr;53(2):194-8. Turk J Pediatr. 2011. PMID: 21853658
Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased chloride loss in stool. ...Salt substitution therapy started early in life prevents early complications, allows normal growth and development, …
Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased ch …