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Journal Abstract Search

223 related items for PubMed ID: 28687524

  • 21. Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.
    Pereira-Nunes J, Vilan A, Grangeia A, d'Oliveira R.
    J Investig Med High Impact Case Rep; 2023; 11():23247096221150637. PubMed ID: 36691917
    [Abstract] [Full Text] [Related]

  • 22. TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
    Venturutti L, Teater M, Zhai A, Chadburn A, Babiker L, Kim D, Béguelin W, Lee TC, Kim Y, Chin CR, Yewdell WT, Raught B, Phillip JM, Jiang Y, Staudt LM, Green MR, Chaudhuri J, Elemento O, Farinha P, Weng AP, Nissen MD, Steidl C, Morin RD, Scott DW, Privé GG, Melnick AM.
    Cell; 2020 Jul 23; 182(2):297-316.e27. PubMed ID: 32619424
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
    Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J.
    Clin Dysmorphol; 2022 Jul 01; 31(3):145-148. PubMed ID: 35165208
    [No Abstract] [Full Text] [Related]

  • 25. The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP.
    Jung H, Yoo HY, Lee SH, Shin S, Kim SC, Lee S, Joung JG, Nam JY, Ryu D, Yun JW, Choi JK, Ghosh A, Kim KK, Kim SJ, Kim WS, Park WY, Ko YH.
    Oncotarget; 2017 Mar 07; 8(10):17038-17049. PubMed ID: 28152507
    [Abstract] [Full Text] [Related]

  • 26. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
    Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.
    J Med Genet; 2018 Jan 07; 55(1):28-38. PubMed ID: 29021403
    [Abstract] [Full Text] [Related]

  • 27. 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 Jan 07; 8():57. PubMed ID: 29090079
    [Abstract] [Full Text] [Related]

  • 28. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
    Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
    J Hum Genet; 2014 Oct 07; 59(10):581-3. PubMed ID: 25102098
    [Abstract] [Full Text] [Related]

  • 29. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
    Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM, Care4Rare Canada Consortium.
    Clin Genet; 2017 Jan 07; 91(1):92-99. PubMed ID: 27102954
    [Abstract] [Full Text] [Related]

  • 30. The specificity of interactions between nuclear hormone receptors and corepressors is mediated by distinct amino acid sequences within the interacting domains.
    Cohen RN, Brzostek S, Kim B, Chorev M, Wondisford FE, Hollenberg AN.
    Mol Endocrinol; 2001 Jul 07; 15(7):1049-61. PubMed ID: 11435607
    [Abstract] [Full Text] [Related]

  • 31. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
    Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K.
    Am J Med Genet A; 2017 Dec 07; 173(12):3158-3164. PubMed ID: 28941020
    [Abstract] [Full Text] [Related]

  • 32. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
    Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N.
    J Hum Genet; 2016 May 07; 61(5):381-7. PubMed ID: 26818738
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 25(3):546-57. PubMed ID: 26647308
    [Abstract] [Full Text] [Related]

  • 34. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV.
    Am J Hum Genet; 2019 Aug 01; 105(2):425-433. PubMed ID: 31327510
    [Abstract] [Full Text] [Related]

  • 35. De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
    Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R.
    Eur J Med Genet; 2017 Jun 01; 60(6):317-320. PubMed ID: 28389307
    [Abstract] [Full Text] [Related]

  • 36. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
    Ren M, Zheng H, Lu X, Lian W, Feng B.
    Gene; 2023 Nov 30; 886():147777. PubMed ID: 37683765
    [Abstract] [Full Text] [Related]

  • 37. Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
    Sakaguchi A, Yamashita Y, Ishii T, Uehara T, Kosaki K, Takahashi T, Takenouchi T.
    Eur J Med Genet; 2019 Jun 30; 62(6):103537. PubMed ID: 30213762
    [Abstract] [Full Text] [Related]

  • 38. 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 30; 176(7):1683-1687. PubMed ID: 29777588
    [No Abstract] [Full Text] [Related]

  • 39. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
    Eur J Med Genet; 2019 Feb 30; 62(2):129-136. PubMed ID: 29959045
    [Abstract] [Full Text] [Related]

  • 40. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
    Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S.
    Clin Genet; 2017 Dec 30; 92(6):579-586. PubMed ID: 28542722
    [Abstract] [Full Text] [Related]

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