1241 related articles for article (PubMed ID: 26647308)
1. 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
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mutat; 2017 Nov; 38(11):1542-1554. PubMed ID: 28741757
[TBL] [Abstract][Full Text] [Related]
3. 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
Eur J Hum Genet; 2015 Dec; 23(12):1702-7. PubMed ID: 25853299
[TBL] [Abstract][Full Text] [Related]
4. 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
Mol Autism; 2017; 8():57. PubMed ID: 29090079
[TBL] [Abstract][Full Text] [Related]
5. 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
Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
[TBL] [Abstract][Full Text] [Related]
6. 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
Sci Rep; 2018 Nov; 8(1):16161. PubMed ID: 30385778
[TBL] [Abstract][Full Text] [Related]
7. Identification of a Novel
Benvenuto M; Palumbo P; Di Muro E; Perrotta CS; Mazza T; Mandarà GML; Palumbo O; Carella M
Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895307
[TBL] [Abstract][Full Text] [Related]
8.
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
J Med Genet; 2017 Sep; 54(9):613-623. PubMed ID: 28735298
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 24214399
[TBL] [Abstract][Full Text] [Related]
10. 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; 87(5):671-8. PubMed ID: 20950788
[TBL] [Abstract][Full Text] [Related]
11. 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; 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
Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
[TBL] [Abstract][Full Text] [Related]
12. Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.
Vuillaume ML; Cogné B; Jeanne M; Boland A; Ung DC; Quinquis D; Besnard T; Deleuze JF; Redon R; Bézieau S; Laumonnier F; Toutain A
Clin Chim Acta; 2018 Oct; 485():218-223. PubMed ID: 29969624
[TBL] [Abstract][Full Text] [Related]
13. Novel de novo variant in
Blackburn PR; Barnett SS; Zimmermann MT; Cousin MA; Kaiwar C; Pinto E Vairo F; Niu Z; Ferber MJ; Urrutia RA; Selcen D; Klee EW; Pichurin PN
Cold Spring Harb Mol Case Stud; 2017 May; 3(3):a001743. PubMed ID: 28487885
[TBL] [Abstract][Full Text] [Related]
14. [Clinical features and genetic analysis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene].
Hua R; Xu X; Wu D; Yang L; Yuan J; Zhu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1194-1198. PubMed ID: 34839505
[TBL] [Abstract][Full Text] [Related]
15. Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.
Lebrun N; Mehler-Jacob C; Poirier K; Zordan C; Lacombe D; Carion N; Billuart P; Bienvenu T
Gene; 2018 Dec; 679():305-313. PubMed ID: 30217758
[TBL] [Abstract][Full Text] [Related]
16. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L; Vino A; den Hoed J; Underhill HR; Monteil D; Li H; Reynoso Santos FJ; Chung WK; Amaral MD; Schnur RE; Santiago-Sim T; Si Y; Brunner HG; Kleefstra T; Fisher SE
Genet Med; 2021 Mar; 23(3):534-542. PubMed ID: 33110267
[TBL] [Abstract][Full Text] [Related]
17. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A; Ritesh KC; Tsan YC; Liao R; Su F; Cao X; Hannibal MC; Keegan CE; Chinnaiyan AM; Martin DM; Bielas SL
Hum Mol Genet; 2016 Feb; 25(3):597-608. PubMed ID: 26647312
[TBL] [Abstract][Full Text] [Related]
18. 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; 516(1):107-13. PubMed ID: 23287644
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[TBL] [Abstract][Full Text] [Related]
20. Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.
Moirangthem A; Phadke SR
Am J Med Genet A; 2021 Apr; 185(4):1324-1327. PubMed ID: 33427368
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
