BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 24852293)

  • 21. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
    Smigiel R; Biernacka A; Biela M; Murcia-Pienkowski V; Szmida E; Gasperowicz P; Kosinska J; Kostrzewa G; Koppolu AA; Walczak A; Wawrzuta D; Rydzanicz M; Sasiadek M; Ploski R
    J Hum Genet; 2018 Apr; 63(4):517-520. PubMed ID: 29410511
    [TBL] [Abstract][Full Text] [Related]  

  • 22.
    Su X; Zhang J; Mouawad R; Compérat E; Rouprêt M; Allanic F; Parra J; Bitker MO; Thompson EJ; Gowrishankar B; Houldsworth J; Weinstein JN; Tost J; Broom BM; Khayat D; Spano JP; Tannir NM; Malouf GG
    Cancer Res; 2017 Sep; 77(18):4835-4845. PubMed ID: 28754676
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel mutation in EED associated with overgrowth.
    Cohen AS; Tuysuz B; Shen Y; Bhalla SK; Jones SJ; Gibson WT
    J Hum Genet; 2015 Jun; 60(6):339-42. PubMed ID: 25787343
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.
    Martin-Herranz DE; Aref-Eshghi E; Bonder MJ; Stubbs TM; Choufani S; Weksberg R; Stegle O; Sadikovic B; Reik W; Thornton JM
    Genome Biol; 2019 Aug; 20(1):146. PubMed ID: 31409373
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
    Tong TM; Hau EW; Lo IF; Chan DH; Lam ST
    Chin Med J (Engl); 2005 Sep; 118(18):1499-506. PubMed ID: 16232326
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sotos syndrome in two children from India.
    Panigrahi I; Chaudhry C
    Am J Med Genet A; 2020 Sep; 182(9):2181-2183. PubMed ID: 32677741
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
    Cecconi M; Forzano F; Milani D; Cavani S; Baldo C; Selicorni A; Pantaleoni C; Silengo M; Ferrero GB; Scarano G; Della Monica M; Fischetto R; Grammatico P; Majore S; Zampino G; Memo L; Cordisco EL; Neri G; Pierluigi M; Bricarelli FD; Grasso M; Faravelli F
    Am J Med Genet A; 2005 Apr; 134(3):247-53. PubMed ID: 15742365
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 24(1):166. PubMed ID: 38459438
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.
    Berdasco M; Ropero S; Setien F; Fraga MF; Lapunzina P; Losson R; Alaminos M; Cheung NK; Rahman N; Esteller M
    Proc Natl Acad Sci U S A; 2009 Dec; 106(51):21830-5. PubMed ID: 20018718
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.
    Harris JR; Fahrner JA
    Curr Opin Psychiatry; 2019 Mar; 32(2):55-59. PubMed ID: 30601169
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
    Ren Z; Yue L; Hu HY; Hou XL; Chen WQ; Tan Y; Dong Z; Zhang J
    BMC Med Genomics; 2024 Apr; 17(1):116. PubMed ID: 38684994
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The NSD1 and EZH2 overgrowth genes, similarities and differences.
    Tatton-Brown K; Rahman N
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):86-91. PubMed ID: 23592277
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 71(1):75-81. PubMed ID: 37989294
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Histone modification defects in developmental disorders and cancer.
    Cross NC
    Oncotarget; 2012 Jan; 3(1):3-4. PubMed ID: 22287508
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A boy with Silver-Russell syndrome and Sotos syndrome.
    Schwaibold EMC; Beygo J; Obeid K; Jauch A; Hinderhofer K; Moog U
    Am J Med Genet A; 2021 Feb; 185(2):549-554. PubMed ID: 33191647
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]"
    Mencarelli A; Prontera P; Mencarelli A; Rogaia D; Stangoni G; Cecconi M; Esposito S
    Int J Mol Sci; 2018 Oct; 19(10):. PubMed ID: 30332768
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.
    Machida M; Katoh H; Machida M; Miyake A; Taira K; Ohashi H
    Spine (Phila Pa 1976); 2021 Jul; 46(13):E726-E733. PubMed ID: 33332788
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel EED mutation in patient with Weaver syndrome.
    Cooney E; Bi W; Schlesinger AE; Vinson S; Potocki L
    Am J Med Genet A; 2017 Feb; 173(2):541-545. PubMed ID: 27868325
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
    Muhsin E; Basak G; Banu D; Alper G; Mustafa S
    J Mol Neurosci; 2022 Jan; 72(1):149-157. PubMed ID: 34386909
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
    Buxbaum JD; Cai G; Nygren G; Chaste P; Delorme R; Goldsmith J; Råstam M; Silverman JM; Hollander E; Gillberg C; Leboyer M; Betancur C
    BMC Med Genet; 2007 Nov; 8():68. PubMed ID: 18001468
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.