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Journal Abstract Search

386 related items for PubMed ID: 20950788

  • 21. Three Japanese patients with 3p13 microdeletions involving FOXP1.
    Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T.
    Brain Dev; 2019 Mar; 41(3):257-262. PubMed ID: 30424912
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.
    Zsigmond A, Till Á, Bene J, Czakó M, Mikó A, Hadzsiev K.
    Int J Mol Sci; 2024 May 24; 25(11):. PubMed ID: 38891897
    [Abstract] [Full Text] [Related]

  • 24. Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) With Language Impairment Accompanied by Developmental Disability Caused by Forkhead Box Protein 1 (FOXP1) Exon Deletion: A Case Report.
    Alenezi S, Alyahya A, Aldhalaan H.
    Cureus; 2021 Dec 24; 13(12):e20595. PubMed ID: 35103171
    [Abstract] [Full Text] [Related]

  • 25. 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, TUDP Study Group, Nigro V, Brunetti-Pierri N.
    Am J Med Genet A; 2024 Nov 24; 194(11):e63713. PubMed ID: 38924631
    [Abstract] [Full Text] [Related]

  • 26. A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.
    Pariani MJ, Spencer A, Graham JM, Rimoin DL.
    Eur J Med Genet; 2009 Nov 24; 52(2-3):123-7. PubMed ID: 19332160
    [Abstract] [Full Text] [Related]

  • 27. 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 24; 18(11):1216-20. PubMed ID: 20571508
    [Abstract] [Full Text] [Related]

  • 28. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
    Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P, DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C.
    J Med Genet; 2017 Jan 24; 54(1):64-72. PubMed ID: 27572252
    [Abstract] [Full Text] [Related]

  • 29. 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 08; 37(45):10917-10931. PubMed ID: 28978667
    [Abstract] [Full Text] [Related]

  • 30. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.
    Bacon C, Rappold GA.
    Hum Genet; 2012 Nov 08; 131(11):1687-98. PubMed ID: 22736078
    [Abstract] [Full Text] [Related]

  • 31. 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 22; 119(8):. PubMed ID: 35165191
    [Abstract] [Full Text] [Related]

  • 32. FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
    Lozano R, Gbekie C, Siper PM, Srivastava S, Saland JM, Sethuram S, Tang L, Drapeau E, Frank Y, Buxbaum JD, Kolevzon A.
    J Neurodev Disord; 2021 Apr 23; 13(1):18. PubMed ID: 33892622
    [Abstract] [Full Text] [Related]

  • 33. 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 23; 7(7):e00751. PubMed ID: 31111659
    [Abstract] [Full Text] [Related]

  • 34. FOXP2 is not a major susceptibility gene for autism or specific language impairment.
    Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium.
    Am J Hum Genet; 2002 May 23; 70(5):1318-27. PubMed ID: 11894222
    [Abstract] [Full Text] [Related]

  • 35. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
    MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE.
    Am J Hum Genet; 2005 Jun 23; 76(6):1074-80. PubMed ID: 15877281
    [Abstract] [Full Text] [Related]

  • 36. Differential Song Deficits after Lentivirus-Mediated Knockdown of FoxP1, FoxP2, or FoxP4 in Area X of Juvenile Zebra Finches.
    Norton P, Barschke P, Scharff C, Mendoza E.
    J Neurosci; 2019 Dec 04; 39(49):9782-9796. PubMed ID: 31641053
    [Abstract] [Full Text] [Related]

  • 37. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Dec 04; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 38. 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 04; 129(1):e183-8. PubMed ID: 22144704
    [Abstract] [Full Text] [Related]

  • 39. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
    Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.
    Nat Genet; 2010 Jun 04; 42(6):489-91. PubMed ID: 20473310
    [Abstract] [Full Text] [Related]

  • 40. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
    O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.
    Nat Genet; 2011 Jun 04; 43(6):585-9. PubMed ID: 21572417
    [Abstract] [Full Text] [Related]

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