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Journal Abstract Search

123 related items for PubMed ID: 32851780

  • 1. Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.
    Yamada M, Uehara T, Suzuki H, Takenouchi T, Kosaki K.
    Am J Med Genet A; 2020 Nov; 182(11):2709-2714. PubMed ID: 32851780
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  • 2. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
    El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JSK, Faivre L.
    Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
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  • 4. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.
    Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X.
    BMC Med Genomics; 2018 Oct 23; 11(1):92. PubMed ID: 30352594
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  • 6. [Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].
    Liang Y, Ye J, Wei H, Ye F, Luo XP.
    Zhonghua Er Ke Za Zhi; 2018 Aug 02; 56(8):592-596. PubMed ID: 30078240
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  • 9. Identification of a de novo PUF60 variant associated with craniofacial microsomia.
    Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM.
    Am J Med Genet A; 2024 Sep 02; 194(9):e63631. PubMed ID: 38647383
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  • 11. Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.
    Baum E, Huang W, Vincent-Delorme C, Brunelle P, Antebi A, Dafsari HS.
    Int J Mol Sci; 2024 Feb 08; 25(4):. PubMed ID: 38396730
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  • 12. PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.
    Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N.
    Eur J Med Genet; 2019 Dec 08; 62(12):103587. PubMed ID: 30472487
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  • 14. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.
    Hoogenboom A, Falix FA, van der Laan L, Kerkhof J, Alders M, Sadikovic B, van Haelst MM.
    Eur J Hum Genet; 2024 Apr 08; 32(4):435-439. PubMed ID: 38273166
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  • 15. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
    Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M.
    Clin Genet; 2017 Sep 08; 92(3):350-351. PubMed ID: 28074499
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  • 16. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
    Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.
    Am J Hum Genet; 2013 Nov 07; 93(5):798-811. PubMed ID: 24140112
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  • 18. PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
    Královicová J, Ševcíková I, Stejskalová E, Obuca M, Hiller M, Stanek D, Vorechovský I.
    Nucleic Acids Res; 2018 Jul 06; 46(12):6166-6187. PubMed ID: 29788428
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