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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: terminology
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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology
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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology
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CATALISE: a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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CATALISE : a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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In: Communication Sciences and Disorders Publications (2016)
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Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
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Associations of HLA alleles with specific language impairment
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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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Associations of HLA alleles with specific language impairment
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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Simpson, Nuala H.; Addis, Laura; Brandler, William M.; Slonims, Vicky; Clark, Ann; Watson, Jocelynne; Scerri, Thomas S.; Hennessy, Elizabeth R.; Bolton, Patrick F.; Conti-Ramsden, Gina; Fairfax, Benjamin P.; Knight, Julian C.; Stein, John F.; Talcott, Joel B.; O'Hare, Anne; Baird, Gillian; Paracchini, Silvia; Fisher, Simon E.; Newbury, Dianne F.; SLI Consortium. - 2013
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Abstract:
Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
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URL: https://publications.aston.ac.uk/id/eprint/21009/1/Increased_prevalence_of_sex_chromosome_aneuploidies_in_specific_language_impairment_and_dyslexia.pdf https://publications.aston.ac.uk/id/eprint/21009/ https://doi.org/10.1111/dmcn.12294
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
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In: Human molecular genetics, vol 21, iss 21 (2012)
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
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In: ISSN: 0964-6906 ; EISSN: 1460-2083 ; Human Molecular Genetics ; https://www.hal.inserm.fr/inserm-00723650 ; Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩ (2012)
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Individual common variants exert weak effects on the risk for autism spectrum disorders ...
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Individual common variants exert weak effects on the risk for autism spectrum disorders
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Individual common variants exert weak effects on risk for Autism Spectrum Disorders
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi
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