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979 results

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Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE. Sollis E, et al. Hum Mol Genet. 2016 Feb 1;25(3):546-57. doi: 10.1093/hmg/ddv495. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647308

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE. Sollis E, et al. Hum Mutat. 2017 Nov;38(11):1542-1554. doi: 10.1002/humu.23303. Epub 2017 Aug 14. Hum Mutat. 2017. PMID: 28741757

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

Lozano R, Vino A, Lozano C, Fisher SE, Deriziotis P. Lozano R, et al. Eur J Hum Genet. 2015 Dec;23(12):1702-7. doi: 10.1038/ejhg.2015.66. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853299 Free PMC article.

Prospective investigation of FOXP1 syndrome.

Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD. Siper PM, et al. Mol Autism. 2017 Oct 24;8:57. doi: 10.1186/s13229-017-0172-6. eCollection 2017. Mol Autism. 2017. PMID: 29090079 Free PMC article.

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L, Chen M, Wang Y, Wu H, Quan Y, Bai T, Li K, Duan G, Gao Y, Hu Z, Xia K, Guo H. Han L, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00789. doi: 10.1002/mgg3.789. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31199603 Free PMC article.

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.

Johnson TB, Mechels K, Anderson RH, Cain JT, Sturdevant DA, Braddock S, Pinz H, Wilson MA, Landsverk M, Roux KJ, Weimer JM. Johnson TB, et al. Sci Rep. 2018 Nov 1;8(1):16161. doi: 10.1038/s41598-018-34437-0. Sci Rep. 2018. PMID: 30385778 Free PMC article.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298

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. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399

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. Hamdan FF, et al. Am J Hum Genet. 2010 Nov 12;87(5):671-8. doi: 10.1016/j.ajhg.2010.09.017. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950788 Free PMC article.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. Nabais Sá MJ, et al. Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29. Genet Med. 2019. PMID: 30923367 Free article.

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