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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 14"
Page 1
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. ...Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recess …
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clini …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...The principal clinical manifestations of the syndrome a …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual …
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY …
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.
Yunisova G, Tufekcioglu Z, Dogu O, Bilgic B, Kaleagasi H, Akca Kalem S, Lohmann E, Gurvit HI, Emre M, Hanagasi HA. Yunisova G, et al. Neurodegener Dis. 2019;19(5-6):218-224. doi: 10.1159/000506770. Epub 2020 Apr 29. Neurodegener Dis. 2019. PMID: 32349000
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. ...The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (4 …
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pa …
Genetic influences in autism.
Smalley SL. Smalley SL. Psychiatr Clin North Am. 1991 Mar;14(1):125-39. Psychiatr Clin North Am. 1991. PMID: 2047327 Review.
Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous sclerosis, together accounting for perhaps 8% to 11% or more of cases of autism. ...Whether these differences represent genetic heterogeneity or …
Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous scle …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C. Klebe S, et al. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):505-30. doi: 10.1016/j.neurol.2015.02.017. Epub 2015 May 23. Rev Neurol (Paris). 2015. PMID: 26008818 Review.
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of 76 different spastic gait disease-loci with 59 corresponding spastic paraplegia genes. Autosomal recessive HSP are usually as …
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of …
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
CONCLUSIONS: NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. . …
CONCLUSIONS: NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebe …
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 …
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.
Zare Ashrafi F, Akhtarkhavari T, Fattahi Z, Asadnezhad M, Beheshtian M, Arzhangi S, Najmabadi H, Kahrizi K. Zare Ashrafi F, et al. Arch Iran Med. 2023 Apr 1;26(4):186-197. doi: 10.34172/aim.2023.29. Arch Iran Med. 2023. PMID: 38301078 Free PMC article.
BACKGROUND: Intellectual disability (ID) is a genetically heterogeneous condition, and so far, 1679 human genes have been identified for this phenotype. ...The most common syndromic ID in our cohort was AP4 deficiency syndrome, and the most common non-syndromic a …
BACKGROUND: Intellectual disability (ID) is a genetically heterogeneous condition, and so far, 1679 human genes have been iden …
The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
Kolkıran A, Karaosmanoğlu B, Taşkıran ZE, Şimşek-Kiper PÖ, Utine GE. Kolkıran A, et al. Turk J Pediatr. 2021;63(6):1091-1096. doi: 10.24953/turkjped.2021.06.019. Turk J Pediatr. 2021. PMID: 35023661 Free article.
BACKGROUND: Mucolipidosis type 3 gamma (ML-IIIgamma) is an autosomal recessive, rare and slowly progressive lysosomal storage disease. ...He did not have intellectual disability or corneal clouding. Radiographs showed irregularities in the acetabular r …
BACKGROUND: Mucolipidosis type 3 gamma (ML-IIIgamma) is an autosomal recessive, rare and slowly progressive lysosomal storage …
47 results