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Journal Abstract Search

137 related items for PubMed ID: 38990797

  • 1.
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  • 2. A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
    Baynam G, Schofield L, Goldblatt J.
    BMJ Case Rep; 2011 Sep 19; 2011():. PubMed ID: 22679258
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  • 3. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
    Kılıç E, Utine GE, Boduroğlu K.
    Turk J Pediatr; 2013 Sep 19; 55(2):207-9. PubMed ID: 24192683
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  • 4. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
    Chen CP.
    Taiwan J Obstet Gynecol; 2012 Jun 19; 51(2):186-91. PubMed ID: 22795092
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  • 5. Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
    Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE.
    Am J Med Genet A; 2011 Sep 19; 155A(9):2105-11. PubMed ID: 21834047
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  • 6. [Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].
    Cortès-Saladelafont E, Arias-Sáez K, Esteban-Oliva D, Coroleu-Lletget W, Martín-Jiménez P, Pintos-Morell G.
    An Pediatr (Barc); 2011 Aug 19; 75(2):129-33. PubMed ID: 21482210
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  • 7. Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
    McClelland J, Burgess B, Crock P, Goel H.
    Am J Med Genet A; 2016 Apr 19; 170A(4):1064-9. PubMed ID: 26738611
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  • 8. Mutations in SETD2 cause a novel overgrowth condition.
    Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.
    J Med Genet; 2014 Aug 19; 51(8):512-7. PubMed ID: 24852293
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  • 9. Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome.
    Ragaie C, Kishk NA, Nawito AM, Othman AS, Magdy R.
    Int J Neurosci; 2023 Jan 19; 133(1):81-85. PubMed ID: 33554696
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  • 10. Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
    Castro MAA, Dos Santos JHV, Honjo RS, Yamamoto GL, Bertola DR, Hurst AC, Chorich LP, Layman LC, Kim CA, Kim HG.
    Am J Med Genet A; 2021 Dec 19; 185(12):3916-3923. PubMed ID: 34405946
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  • 11. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
    Masunaga Y, Ono H, Fujisawa Y, Taniguchi K, Saitsu H, Ogata T.
    Endocr J; 2024 Jan 29; 71(1):75-81. PubMed ID: 37989294
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  • 14. The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
    Yue X, Liu B, Han T, Guo D, Ding R, Wang G.
    BMC Pediatr; 2024 Mar 08; 24(1):166. PubMed ID: 38459438
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  • 15. Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy.
    Bättig L, Rosch R, Steindl K, Bürki SE, Ramantani G.
    Epileptic Disord; 2021 Jun 01; 23(3):506-510. PubMed ID: 34080978
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  • 16. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
    Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C.
    Pediatr Res; 2015 Nov 01; 78(5):533-9. PubMed ID: 26200704
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  • 18. First report of tethered cord syndrome in a patient with Sotos syndrome.
    Kuzucu P, Türkmen T, Börcek AÖ.
    BMC Pediatr; 2020 Apr 24; 20(1):183. PubMed ID: 32331522
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  • 20. Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
    Bou-Assi E, Bonniaud B, Grimaldi M, Faivre L, Vabres P.
    Pediatr Dermatol; 2016 Nov 24; 33(6):e351-e352. PubMed ID: 27601358
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