1 | DEL7Q31, FOXP2, SPCH1
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| Phenotype of FOXP2 haploinsufficiency in a mother and son.
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| Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD.
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| Am J Med Genet A m J Med Genet A. 2011 Nov 21. doi: 10.1002/ajmg.a.34354. [Epub ahead of print]
2011
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2 | CNTNAP2, FOXP2, SPCH1, SPCHSL
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| A Functional Genetic Link between Distinct Developmental Language Disorders.
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| Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE.
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| N Engl J Med Engl J Med. 2008 Nov 5. [Epub ahead of print] 2008
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3 | FOXP2, SPCH1
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| A Functional Genetic Link between Distinct Developmental Language Disorders.
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| Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE.
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| N Engl J Med Engl J Med. 2008 Nov 5. [Epub ahead of print]
2008
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4 | DEL7Q31, SPCH1, AUTS9, FOXP2, WNT2
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| Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review.
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| Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA.
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| Am J Med Genet A [Epub ahead of print] 2007
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5 | BFPP, SPCH1, SPELI1, SPELI2, SPELI3, DYX3, DYX2, DYX1, DYX5, DYX6
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| The eloquent ape: genes, brains and the evolution of language.
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| Fisher SE, Marcus GF.
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| Nat Rev Genet 7(1):9-20. Review. 2006
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6 | DEL7Q31, FOXP2, SPCH1
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| Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
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| Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW.
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| Am J Med Genet A 140(5):509-14. 2006
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7 | FOXP2, SPCH1
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| Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.
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| Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA.
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| J Speech Lang Hear Res 49(3):500-25.
2006
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8 | FOXP2, SPCH1
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| Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits.
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| Macdermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE.
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| Am J Hum Genet 76(6):1074-80. Epub 2005 Apr 22. 2005
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9 | FOXP2, SPCH1
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| FOXP2 and the neuroanatomy of speech and language.
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| Vargha-Khadem F, Gadian DG, Copp A, Mishkin M.
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| Nat Rev Neurosci 6(2):131-8. Review. 2005
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10 | DYX5, SPCH1
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| A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32.
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| Kaminen N, Hannula-Jouppi K, Kestila M, Lahermo P, Muller K, Kaaranen M, Myllyluoma B, Voutilainen A, Lyytinen H, Nopola-Hemmi J, Kere J.
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| J Med Genet 40(5):340-5. 2003
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11 | FOXP2, SPCH1
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| Association of specific language impairment (SLI) to the region of 7q31.
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| O'Brien EK, Zhang X, Nishimura C, Tomblin JB, Murray JC.
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| Am J Hum Genet 72(6):1536-43. Epub 2003 Apr 29. 2003
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12 | FOXP2, SPCH1
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| Expression of Foxp2, a gene involved in speech and language, in the developing and adult striatum.
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| Takahashi K, Liu FC, Hirokawa K, Takahashi H.
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| J Neurosci Res 73(1):61-72. 2003
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13 | FOXP2, SPCH1
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| FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
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| Lai CS, Gerrelli D, Monaco AP, Fisher SE, Copp AJ.
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| Brain 126(Pt 11):2455-62. Epub 2003 Jul 22. 2003
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14 | SPCH1
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| FOXP2 is not a major susceptibility gene for autism or specific language impairment.
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| Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP.
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| Am J Hum Genet 70(5):1318-27. 2002
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15 | FOXP2, SPCH1
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| Evaluation of FOXP2 as an autism susceptibility gene.
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| Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE, Sheffield VC.
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| Am J Med Genet 114(5):566-9. 2002
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16 | FOXP2, SPCH1
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| FOXP2: novel exons, splice variants, and CAG repeat length stability.
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| Bruce HA, Margolis RL.
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| Hum Genet 111(2):136-44. 2002
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17 | FOXP2, SPCH1
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| Molecular evolution of FOXP2, a gene involved in speech and language.
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| Enard W, Przeworski M, Fisher SE, Lai CS, Wiebe V, Kitano T, Monaco AP, Paabo S.
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| Nature 418(6900):869-72. 2002
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18 | FOXP2, SPCH1
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| A forkhead-domain gene is mutated in a severe speech and language disorder.
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| Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP.
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| Nature 413(6855):519-23. 2001
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19 | FOXP2, SPCH1, DEL7Q31
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| The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
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| Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP.
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| Am J Hum Genet 67(2):357-68. 2000
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20 | SPCH1
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| Localisation of a gene implicated in a severe speech and language disorder.
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| Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME.
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| Nat Genet 18(2):168-70. 1998
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21 | SPCH1
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| Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.
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| Vargha-Khadem F, et al.
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| Proc Natl Acad Sci U S A 92 : 930-933. 1995
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