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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014)
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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
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In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2013)
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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011)
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A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2010)
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A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
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CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2009)
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CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
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Ragoussis, Jiannis; Everitt, Andrea; Addis, L.; Nasir, J.; Bolton, P. F.; Shaw, D.; Cowie, H.; Monaco, A. P.; Dworzynski, Katharina; Helms, P. J.; Bishop, DVM; Pickles, A.; Slonims, V.; Buckingham, Lyn-Louise; Cohen, W.; Watson, Jocelynne; Goodyer, I. M.; Winchester, Laura; Conti-Ramsden, G.; Miller, Laura L.; Seckl, J.; Newbury, D. F.; Hennessy, E.; Paracchini, Silvia; Simkin, Z.; Fisher, S. E.; Baird, G.; O'Hare, Anne; Clark, Ann; Kindley, A. D.; Simonoff, E.. - 2009
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Abstract:
Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 10-7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 10-5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition. ; casl ; Harel, S., Greenstein, Y., Kramer, U., Yifat, R., Samuel, E., Nevo, Y., Leitner, Y., (.), Shinnar, S. Clinical characteristics of children referred to a child development center for evaluation of speech, language, and communication disorders (1996) Pediatric Neurology, 15 (4), pp. 305-311. 2. Law, J., Boyle, J., Harris, F., Harkness, A., Nye, C. Prevalence and natural history of primary speech and language delay: Findings from a systematic review of the literature (2000) International Journal of Language and Communication Disorders, 35 (2), pp. 165-188. 3. Bishop, D.V.M., North, T., Donlan, C. Genetic basis of specific language impairment: Evidence from a twin study (1995) Developmental Medicine and Child Neurology, 37 (1), pp. 56-71. 4. Newbury, D.F., Cleak, J.D., Ishikawa-Brush, Y., Marlow, A.J., Fisher, S.E., Monaco, A.P., Stott, C.M., (.), Helms, P.J. A genomewide scan identifies two novel loci involved in specific language impairment (2002) American Journal of Human Genetics, 70 (2), pp. 384-398. 5. Bartlett, C.W., Flax, J.F., Logue, M.W., Vieland, V.J., Bassett, A.S., Tallal, P., Brzustowicz, L.M. A major susceptibility locus for specific language impairment is located on 13q21 (2002) American Journal of Human Genetics, 71 (1), pp. 45-55. 6. Monaco, A.P. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment (2004) American Journal of Human Genetics, 74 (6), pp. 1225-1238. 7. Falcaro, M., Pickles, A., Newbury, D.F., Addis, L., Banfield, E., Fisher, S.E., Monaco, A.P., (.), Pickles, A. Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment (2008) Genes, Brain and Behavior, 7 (4), pp. 393-402. 8. Gathercole, S.E., Willis, C.S., Baddeley, A.D., Emslie, H. The Children's Test of Nonword Repetition: a test of phonological working memory. (1994) Memory (Hove, England), 2 (2), pp. 103-127. 9. Gathercole, S.E., Baddeley, A.D. Phonological memory deficits in language disordered children: Is there a causal connection? (1990) Journal of Memory and Language, 29 (3), pp. 336-360. 10. Gathercole, S.E., Briscoe, J., Thorn, A., Tiffany, C., Team, A.S. Deficits in verbal long-term memory and learning in children with poor phonological short-term memory skills (2008) Quarterly Journal of Experimental Psychology, 61 (3), pp. 474-490. 11. Jones, R.W., Ring, S., Tyfield, L., Hamvas, R., Simmons, H., Pembrey, M., Golding, J. A new human genetic resource: A DNA bank established as part of the avon longitudinal study of pregnancy and childhood (ALSPAC) (2000) European Journal of Human Genetics, 8 (9), pp. 653-660. 12. Golding, J., Pembrey, M., Jones, R. ALSPAC - The Avon Longitudinal Study of Parents and Children I. Study methodology (2001) Paediatric and Perinatal Epidemiology, 15 (1), pp. 74-87. 13. Burden, V., Stott, C.M., Forge, J., Goodyer, I. The Cambridge language and speech project (CLASP).I. Detection of language difficulties at 36 to 39 months (1996) Developmental Medicine and Child Neurology, 38 (7), pp. 613-631. 14. Clark, A., O'Hare, A., Watson, J., Cohen, W., Cowie, H., Elton, R., Nasir, J., (.), Seckl, J. Severe receptive language disorder in childhood-familial aspects and long-term outcomes: Results from a Scottish study (2007) Archives of Disease in Childhood, 92 (7), pp. 614-619. 15. Conti-Ramsden, G., Crutehley, A., Botting, N. The extent to which psychometric children with SLI (1997) Journal of Speech, Language, and Hearing Research, 40 (4), pp. 765-777. 16. Conti-Ramsden, G., Botting, N. Characteristics of children attending language units in England: A national study of 7-year-olds (1999) International Journal of Language and Communication Disorders, 34 (4), pp. 359-366. 17. Barrett, J.C., Fry, B., Maller, J., Daly, M.J. Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. 18. Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., (.), Altshuler, D. The structure of haplotype blocks in the human genome (2002) Science, 296 (5576), pp. 2225-2229. 19. Abecasis, G.R., Cardon, L.R., Cookson, W.O.C. A general test of association for quantitative traits in nuclear families (2000) American Journal of Human Genetics, 66 (1), pp. 279-292. 20. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A.R., Bender, D., Maller, J., (.), Sham, P.C. PLINK: A tool set for whole-genome association and population-based linkage analyses (2007) American Journal of Human Genetics, 81 (3), pp. 559-575. 21. Grimbert, P., Valanciute, A., Audard, V., Pawlak, A., Le gouvelo, S., Lang, P., Niaudet, P., (.), Sahali, D. Truncation of C-mip (Tc-mip), a new proximal signaling protein, induces c-maf Th2 transcription factor and cytoskeleton reorganization (2003) Journal of Experimental Medicine, 198 (5), pp. 797-807. 22. Missiaen, L., Dode, L., Vanoevelen, J., Raeymaekers, L., Wuytack, F. Calcium in the Golgi apparatus (2007) Cell Calcium, 41 (5), pp. 405-416. 23. Faddy, H.M., Smart, C.E., Xu, R., Lee, G.Y., Kenny, P.A., Feng, M., Rao, R., (.), Monteith, G.R. Localization of plasma membrane and secretory calcium pumps in the mammary gland (2008) Biochemical and Biophysical Research Communications, 369 (3), pp. 977-981. 24. Bishop, D.V.M. Development of the Children's Communication Checklist (CCC): A method for assessing qualitative aspects of communicative impairment in children (1998) Journal of Child Psychology and Psychiatry and Allied Disciplines, 39 (6), pp. 879-891. 25. Rust, J. (1996) WOLD Wechsler Objective Language Dimensions Manual. Cited 4 times. The Psychological Corporation, London, UK 26. Lin, P.-I., Vance, J.M., Pericak-Vance, M.A., Martin, E.R. No gene is an island: The flip-flop phenomenon (2007) American Journal of Human Genetics, 80 (3), pp. 531-538. 27. Semel, E.M., Wiig, E.H., Secord, W. (1992) Clinical Evaluation of Language Fundamentals-Revised. Cited 1039 times. Psychological Corporation, San Antonio 28. Wechsler, D., Golombok, S., Rust, J. (1992) Wechsler Intelligence Scale for Children: UK Manual. Third Edition. Cited 5186 times. The Psychological Corporation, Sidcup, UK 29. Archibald, L.M.D., Gathercole, S.E. Nonword repetition in specific language impairment: More than a phonological short-term memory deficit (2007) Psychonomic Bulletin and Review, 14 (5), pp. 919-924. 30. Conti-Ramsden, G., Durkin, K. Phonological short-term memory, language and literacy: Developmental relationships in early adolescence in young people with SLI (2007) Journal of Child Psychology and Psychiatry and Allied Disciplines, 48 (2), pp. 147-156. 31. Bishop, D.V.M. What causes specific language impairment in children? (2006) Current Directions in Psychological Science, 15 (5), pp. 217-221. 32. Lesch, K.-P., Timmesfeld, N., Renner, T.J., Halperin, R., Rser, C., Nguyen, T.T., Craig, D.W., (.), Jacob, C. Molecular genetics of adult ADHD: Converging evidence from genome-wide association and extended pedigree linkage studies (2008) Journal of Neural Transmission, 115 (11), pp. 1573-1585. 33. Cohen, N.J., Vallance, D.D., Barwick, M., Im, N., Menna, R., Horodezky, N.B., Isaacson, L. The interface between ADHD and language impairment: An examination of language, achievement, and cognitive processing (2000) Journal of Child Psychology and Psychiatry and Allied Disciplines, 41 (3), pp. 353-362. 34. Pennington, B.F., Bishop, D.V.M. Relations among speech, language, and reading disorders (2009) Annual Review of Psychology, 60, pp. 283-306. 35. Kibby, M.Y., Cohen, M.J. Memory functioning in children with reading disabilities and/or attention deficit/hyperactivity disorder: A clinical investigation of their working memory and long-term memory functioning (2008) Child Neuropsychology, 14 (6), pp. 525-546. 36. Gathercole, S.E., Alloway, T.P. Practitioner review: Short-term and working memory impairments in neurodevelopmental disorders: Diagnosis and remedial support (2006) Journal of Child Psychology and Psychiatry and Allied Disciplines, 47 (1), pp. 4-15. 37. Hayiou-Thomas, M.E. Genetic and environmental influences on early speech, language and literacy development (2008) Journal of Communication Disorders, 41 (5), pp. 397-408. 38. Zheng, J.Q., Poo, M.-M. Calcium signaling in neuronal motility (2007) Annual Review of Cell and Developmental Biology, 23, pp. 375-404. 39. Normandin, L., Hazell, A.S. Manganese neurotoxicity: An update of pathophysiologic mechanisms (2002) Metabolic Brain Disease, 17 (4), pp. 375-387. 40. Grimbert, P., Valanciute, A., Audard, V., Lang, P., Guellan, G., Sahali, D. The Filamin-A is a partner of Tc-mip, a new adapter protein involved in c-maf-dependent Th2 signaling pathway (2004) Molecular Immunology, 40 (17), pp. 1257-1261. 41. Kamal, M., Valanciute, A., Dahan, K., Ory, V., Pawlak, A., Lang, P., Guellaen, G., (.), Sahali, D. C-mip interacts physically with RelA and inhibits nuclear factor kappa B activity (2009) Molecular Immunology, 46 (5), pp. 991-998. 42. Mmet, S. NF-B functions in the nervous system: From development to disease (2006) Biochemical Pharmacology, 72 (9 SPEC. ISS.), pp. 1180-1195. ; 85 ; pub ; 690 ; pub ; 2
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URL: https://hdl.handle.net/20.500.12289/690
https://eresearch.qmu.ac.uk/handle/20.500.12289/690
https://doi.org/10.1016/j.ajhg.2009.07.004
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Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008)
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Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment
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