These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

130 related items for PubMed ID: 35165208

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. A specific mutation in TBL1XR1 causes Pierpont syndrome.
    Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.
    J Med Genet; 2016 May; 53(5):330-7. PubMed ID: 26769062
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
    Tamma PL, Streff H, Murali CN.
    Am J Med Genet A; 2023 Jun; 191(6):1576-1580. PubMed ID: 36843287
    [Abstract] [Full Text] [Related]

  • 5. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
    Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.
    Eur J Med Genet; 2017 Oct; 60(10):504-508. PubMed ID: 28687524
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
    Arroyo Carrera I, Fernández-Burriel M, Lapunzina P, Tenorio JA, García Navas VD, Márquez Isidro E.
    Clin Genet; 2021 Jun; 99(6):812-817. PubMed ID: 33527360
    [Abstract] [Full Text] [Related]

  • 9. Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
    O'Keefe S, Wefuan DT, Humberson JB, Schmidt K, Wiley J.
    J Med Case Rep; 2016 Aug 12; 10(1):223. PubMed ID: 27520388
    [Abstract] [Full Text] [Related]

  • 10. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
    Am J Med Genet A; 2017 Aug 12; 173(8):2132-2138. PubMed ID: 28574232
    [Abstract] [Full Text] [Related]

  • 11. A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.
    García-Payá E, Sirera Sirera P, Huertas-García I, Hernández Romero SD, Olivas García J.
    Cytogenet Genome Res; 2023 Aug 12; 163(5-6):295-300. PubMed ID: 37844553
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
    Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B.
    Am J Med Genet A; 2018 Jul 12; 176(7):1683-1687. PubMed ID: 29777588
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Pierpont syndrome: report of a new patient.
    Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.
    Clin Dysmorphol; 2017 Oct 12; 26(4):205-208. PubMed ID: 28562391
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
    Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS.
    Orphanet J Rare Dis; 2024 Feb 20; 19(1):79. PubMed ID: 38378692
    [Abstract] [Full Text] [Related]

  • 20. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
    Nishi A, Numata S, Tajima A, Zhu X, Ito K, Saito A, Kato Y, Kinoshita M, Shimodera S, Ono S, Ochi S, Imamura A, Kurotaki N, Ueno SI, Iwata N, Fukui K, Imoto I, Kamiya A, Ohmori T.
    Sci Rep; 2017 Jun 06; 7(1):2887. PubMed ID: 28588275
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.