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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 …
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD. Sandal S, et al. Indian J Pediatr. 2024 Jul;91(7):682-695. doi: 10.1007/s12098-023-04820-5. Epub 2023 Oct 7. Indian J Pediatr. 2024. PMID: 37804371
OBJECTIVES: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability (ID) unexplained by conventional tests and to assess the impact of definitive diagnosis on the clinical management and …
OBJECTIVES: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual …
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
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. ...Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensor …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifest …
Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN. Toktaş İ, et al. Turk J Pediatr. 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. Turk J Pediatr. 2022. PMID: 36583880 Free article.
BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified and treated early, severe intellectual disability and developmental delay occur. ...RESULTS: Between 2011 and 2020, blood was …
BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified …
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H, Pancholi D, Bhavsar R, Mannan AU, Ganapathy A, Chowdhury M, Shah S, Solanki D, Sheth F, Sheth J. Sheth H, et al. Neurol India. 2021 Nov-Dec;69(6):1729-1736. doi: 10.4103/0028-3886.333475. Neurol India. 2021. PMID: 34979677 Free article.
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and developmental delay, were recruited. CES covering 4620 genes was performed on all patients. ...Fifteen variants were reported previously and …
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and …
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 …
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
Petraroli M, Percesepe A, Piane M, Ormitti F, Castellone E, Gnocchi M, Messina G, Bernardi L, Patianna VD, Esposito SMR, Street ME. Petraroli M, et al. Front Endocrinol (Lausanne). 2023 May 10;14:1018441. doi: 10.3389/fendo.2023.1018441. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37234811 Free PMC article.
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, gener …
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcepha …
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK, Chellappa A, Subramaniam AG, More RP, Shetty S, Prakash S, Ratna N, Vandana VP, Purushottam M, Saini J, Viswanath B, Bindu PS, Nagappa M, Mehta B, Jain S, Kannan R. Nadella RK, et al. Hum Genomics. 2019 Oct 22;13(1):53. doi: 10.1186/s40246-019-0236-0. Hum Genomics. 2019. PMID: 31640787 Free PMC article.
BACKGROUND: Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disability, and comorbid phenotypes …
BACKGROUND: Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-reces …
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER. Prasad A, et al. BMC Med Genet. 2018 Mar 20;19(1):46. doi: 10.1186/s12881-018-0555-3. BMC Med Genet. 2018. PMID: 29554876 Free PMC article.
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, developmental delay, epilepsy, intellectual disability and microcephaly. RESULTS: In 11.3% (6/53) of cases, the analysis …
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, d …
17 results