187 related articles for article (PubMed ID: 29330474)
1. 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]
2. 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]
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. 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]
5. 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]
6.
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]
7. 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]
8. 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]
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. A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.
Arunachal G; Danda S; Omprakash S; Kumar S
Clin Dysmorphol; 2016 Jul; 25(3):101-5. PubMed ID: 27043953
[No Abstract] [Full Text] [Related]
11. 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]
12. Case report: FOXP1 syndrome caused by a
Chen M; Sun Y; Qian Y; Chen N; Li H; Wang L; Dong M
Front Genet; 2022; 13():926070. PubMed ID: 35991577
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R; Roca-Ayats N; Trepat J; Garcia-Garcia F; Aleman A; Orteschi D; Marangi G; Neri G; Opitz JM; Dopazo J; Cormand B; Vilageliu L; Balcells S; Grinberg D
Am J Med Genet A; 2016 Jan; 170A(1):24-31. PubMed ID: 26768331
[TBL] [Abstract][Full Text] [Related]
16. Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
Bedoukian E; Copenheaver D; Bale S; Deardorff M
Am J Med Genet A; 2018 May; 176(5):1249-1252. PubMed ID: 29681100
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
Zombor M; Kalmár T; Maróti Z; Zimmermann A; Máté A; Bereczki C; Sztriha L
J Hum Genet; 2018 Nov; 63(11):1189-1193. PubMed ID: 30181650
[TBL] [Abstract][Full Text] [Related]
19. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
Kloth K; Denecke J; Hempel M; Johannsen J; Strom TM; Kubisch C; Lessel D
Eur J Med Genet; 2017 Sep; 60(9):494-498. PubMed ID: 28687526
[TBL] [Abstract][Full Text] [Related]
20. Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy.
Jay K; Mitra A; Harding T; Matthes D; Van Ness B
Mol Genet Genomic Med; 2019 Jul; 7(7):e00751. PubMed ID: 31111659
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
