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2. 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]
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. 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]
5. 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]
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. 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]
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; 87(5):671-8. PubMed ID: 20950788 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. Peduto C; Cappuccio G; Zeuli R; Zanobio M; Torella A; Alkuraya FS; Joss S; Daolio C; Spinelli AM; Zampieri S; ; Nigro V; Brunetti-Pierri N Am J Med Genet A; 2024 Nov; 194(11):e63713. PubMed ID: 38924631 [TBL] [Abstract][Full Text] [Related]
12. Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene. Mutlu-Albayrak H; Karaer K Int J Pediatr Otorhinolaryngol; 2019 Feb; 117():179-181. PubMed ID: 30579078 [TBL] [Abstract][Full Text] [Related]
13. Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome. Wang J; Fröhlich H; Torres FB; Silva RL; Poschet G; Agarwal A; Rappold GA Proc Natl Acad Sci U S A; 2022 Feb; 119(8):. PubMed ID: 35165191 [TBL] [Abstract][Full Text] [Related]
14. FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? Myers A; du Souich C; Yang CL; Borovik L; Mwenifumbo J; Rupps R; Study C; Lehman A; Boerkoel CF Am J Med Genet A; 2017 Dec; 173(12):3172-3181. PubMed ID: 28884888 [TBL] [Abstract][Full Text] [Related]
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16. Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals. Koene S; Ropers FG; Wieland J; Rybak T; Wildschut F; Berghuis D; Morgan A; Trelles MP; Scheepe JR; Bökenkamp R; Peeters-Scholte CMPCD; Braden R; Santen GWE J Med Genet; 2024 Mar; 61(4):399-404. PubMed ID: 38123995 [TBL] [Abstract][Full Text] [Related]
17. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Urreizti R; Damanti S; Esteve C; Franco-Valls H; Castilla-Vallmanya L; Tonda R; Cormand B; Vilageliu L; Opitz JM; Neri G; Grinberg D; Balcells S Sci Rep; 2018 Jan; 8(1):694. PubMed ID: 29330474 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799 [TBL] [Abstract][Full Text] [Related]
20. Foxp1 in Forebrain Pyramidal Neurons Controls Gene Expression Required for Spatial Learning and Synaptic Plasticity. Araujo DJ; Toriumi K; Escamilla CO; Kulkarni A; Anderson AG; Harper M; Usui N; Ellegood J; Lerch JP; Birnbaum SG; Tucker HO; Powell CM; Konopka G J Neurosci; 2017 Nov; 37(45):10917-10931. PubMed ID: 28978667 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]