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Results: 1 to 20 of 113

1.

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA.

Eur J Hum Genet. 2010 Nov;18(11):1216-20. doi: 10.1038/ejhg.2010.96. Epub 2010 Jun 23.

PMID:
20571508
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Pariani MJ, Spencer A, Graham JM Jr, Rimoin DL.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):123-7. doi: 10.1016/j.ejmg.2009.03.012. Epub 2009 Mar 28.

PMID:
19332160
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF.

Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24.

PMID:
24214399
[PubMed - indexed for MEDLINE]
4.

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW.

Am J Med Genet A. 2006 Mar 1;140(5):509-14.

PMID:
16470794
[PubMed - indexed for MEDLINE]
5.

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.

Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31.

PMID:
23287644
[PubMed - indexed for MEDLINE]
6.

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM.

Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362.

PMID:
20848658
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.

Vernes SC, MacDermot KD, Monaco AP, Fisher SE.

Eur J Hum Genet. 2009 Oct;17(10):1354-8. doi: 10.1038/ejhg.2009.43. Epub 2009 Apr 8.

PMID:
19352412
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL.

Am J Hum Genet. 2010 Nov 12;87(5):671-8. doi: 10.1016/j.ajhg.2010.09.017. Epub 2010 Oct 14.

PMID:
20950788
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD.

Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21.

PMID:
22106036
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.

Bacon C, Rappold GA.

Hum Genet. 2012 Nov;131(11):1687-98. doi: 10.1007/s00439-012-1193-z. Epub 2012 Jun 27. Review.

PMID:
22736078
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction.

Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA.

J Neurosci. 2004 Mar 31;24(13):3152-63.

PMID:
15056695
[PubMed - indexed for MEDLINE]
Free Article
12.

The forkhead transcription factors, Foxp1 and Foxp2, identify different subpopulations of projection neurons in the mouse cerebral cortex.

Hisaoka T, Nakamura Y, Senba E, Morikawa Y.

Neuroscience. 2010 Mar 17;166(2):551-63. doi: 10.1016/j.neuroscience.2009.12.055. Epub 2009 Dec 28.

PMID:
20040367
[PubMed - indexed for MEDLINE]
13.

Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Chang SW, Mislankar M, Misra C, Huang N, Dajusta DG, Harrison SM, McBride KL, Baker LA, Garg V.

Hum Mutat. 2013 Sep;34(9):1226-30. doi: 10.1002/humu.22366. Epub 2013 Jul 11.

PMID:
23766104
[PubMed - indexed for MEDLINE]
14.

Expression of Foxp2, a gene involved in speech and language, in the developing and adult striatum.

Takahashi K, Liu FC, Hirokawa K, Takahashi H.

J Neurosci Res. 2003 Jul 1;73(1):61-72.

PMID:
12815709
[PubMed - indexed for MEDLINE]
15.

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA.

J Comp Neurol. 2003 May 26;460(2):266-79.

PMID:
12687690
[PubMed - indexed for MEDLINE]
16.

Foxp2 and Foxp1 cooperatively regulate lung and esophagus development.

Shu W, Lu MM, Zhang Y, Tucker PW, Zhou D, Morrisey EE.

Development. 2007 May;134(10):1991-2000. Epub 2007 Apr 11.

PMID:
17428829
[PubMed - indexed for MEDLINE]
Free Article
17.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

PMID:
19914906
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G.

Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5.

PMID:
22144704
[PubMed - indexed for MEDLINE]
Free Article
19.

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA.

Am J Med Genet A. 2007 Apr 15;143A(8):791-8. Review.

PMID:
17330859
[PubMed - indexed for MEDLINE]
20.

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jan 30;132A(3):273-5.

PMID:
15523623
[PubMed - indexed for MEDLINE]

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