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Journal Abstract Search

645 related items for PubMed ID: 27804958

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
    Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF.
    Eur J Hum Genet; 2017 May; 25(5):552-559. PubMed ID: 28327570
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
    Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF.
    Am J Med Genet A; 2022 Dec 23; 188(12):3432-3447. PubMed ID: 36367278
    [Abstract] [Full Text] [Related]

  • 6. First report of tethered cord syndrome in a patient with Verheij syndrome.
    Kocaaga A, Yimenicioglu S, Atikel YÖ, Yavuz OÖ.
    Ophthalmic Genet; 2023 Aug 23; 44(4):396-400. PubMed ID: 36134573
    [Abstract] [Full Text] [Related]

  • 7. 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 23; 182(11):2709-2714. PubMed ID: 32851780
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 62(12):103587. PubMed ID: 30472487
    [Abstract] [Full Text] [Related]

  • 9. PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
    Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ.
    Am J Med Genet A; 2023 Oct 23; 191(10):2610-2622. PubMed ID: 37303278
    [Abstract] [Full Text] [Related]

  • 10. 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 23; 194(9):e63631. PubMed ID: 38647383
    [Abstract] [Full Text] [Related]

  • 11. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
    Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan 23; 177(1):10-20. PubMed ID: 28990276
    [Abstract] [Full Text] [Related]

  • 12. [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
    [Abstract] [Full Text] [Related]

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  • 14. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
    Miao M, Wang J, Guo C, Su X, Sun L, Lu S.
    Gene; 2024 Mar 01; 897():148092. PubMed ID: 38110042
    [Abstract] [Full Text] [Related]

  • 15. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
    Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.
    Eur J Hum Genet; 2015 Nov 01; 23(11):1499-504. PubMed ID: 25712080
    [Abstract] [Full Text] [Related]

  • 16. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.
    Am J Med Genet A; 2018 Sep 01; 176(9):1845-1851. PubMed ID: 30055086
    [Abstract] [Full Text] [Related]

  • 17. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May 01; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
    Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.
    Am J Hum Genet; 2017 Dec 07; 101(6):985-994. PubMed ID: 29198724
    [Abstract] [Full Text] [Related]

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