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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 52"
Page 1
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 …
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X. Kong W, et al. J Pediatr Endocrinol Metab. 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. J Pediatr Endocrinol Metab. 2020. PMID: 32447333
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. ...Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech d …
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is …
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P. Waseem SS, et al. Genes (Basel). 2021 Sep 24;12(10):1494. doi: 10.3390/genes12101494. Genes (Basel). 2021. PMID: 34680889 Free PMC article.
Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. ...Using linkage analysis and whole-exome sequencing, we found …
Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It i …
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
This contrasted with the less severe autosomal recessive spinocerebellar ataxia type 12 phenotype due to hypomorphic alleles. ...CONCLUSIONS: Our results obtained by a combination of different molecular techniques undoubtedly incriminate WWOX as a gene for recess …
This contrasted with the less severe autosomal recessive spinocerebellar ataxia type 12 phenotype due to hypomorphic alleles. …
Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins.
van der Knaap MS, Barth PG. van der Knaap MS, et al. Am J Med Genet. 1994 Aug 15;52(2):218-22. doi: 10.1002/ajmg.1320520218. Am J Med Genet. 1994. PMID: 7802012
This observation adds to the evidence that the condition is acquired, most probably on the basis of hypoxia-ischemia, and provides strong evidence against autosomal-recessive inheritance....
This observation adds to the evidence that the condition is acquired, most probably on the basis of hypoxia-ischemia, and provides strong ev …