BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 30332768)

  • 1. 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]  

  • 2. Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
    Nicita F; Tarani L; Spalice A; Grasso M; Papetti L; Cecconi M; Biasi CD; Ursitti F; Iannetti P
    J Genet; 2011 Apr; 90(1):147-50. PubMed ID: 21677402
    [No Abstract]   [Full Text] [Related]  

  • 3. Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.
    Wejaphikul K; Cho SY; Huh R; Kwun Y; Lee J; Ki CS; Jin DK
    Ann Clin Lab Sci; 2015; 45(2):215-8. PubMed ID: 25887879
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
    Douglas J; Hanks S; Temple IK; Davies S; Murray A; Upadhyaya M; Tomkins S; Hughes HE; Cole TR; Rahman N
    Am J Hum Genet; 2003 Jan; 72(1):132-43. PubMed ID: 12464997
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the
    Jin HY; Li HF; Xu JL; Hui W; Ruan WC; Lv CC; Xu RA; Qiang S
    Medicina (Kaunas); 2022 Jul; 58(7):. PubMed ID: 35888687
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
    Tatton-Brown K; Douglas J; Coleman K; Baujat G; Cole TR; Das S; Horn D; Hughes HE; Temple IK; Faravelli F; Waggoner D; Turkmen S; Cormier-Daire V; Irrthum A; Rahman N;
    Am J Hum Genet; 2005 Aug; 77(2):193-204. PubMed ID: 15942875
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
    Liu X; Chen C; Wan L; Zhu G; Zhao Y; Hu L; Liang Y; Gao J; Wang J; Yang G
    Brain Behav; 2023 Dec; 13(12):e3290. PubMed ID: 37908045
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
    Su PH; Yu JS; Chen SJ; Chen JY; Tsao TF
    Clin Dysmorphol; 2011 Jan; 20(1):42-46. PubMed ID: 21084978
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
    Sohn YB; Lee CG; Ko JM; Yang JA; Yun JN; Jung EJ; Jin HS; Park SJ; Jeong SY
    J Hum Genet; 2013 Feb; 58(2):73-7. PubMed ID: 23190751
    [TBL] [Abstract][Full Text] [Related]  

  • 12. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
    Waggoner DJ; Raca G; Welch K; Dempsey M; Anderes E; Ostrovnaya I; Alkhateeb A; Kamimura J; Matsumoto N; Schaeffer GB; Martin CL; Das S
    Genet Med; 2005 Oct; 7(8):524-33. PubMed ID: 16247291
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.
    Donnelly DE; Turnpenny P; McConnell VPM
    Clin Dysmorphol; 2011 Oct; 20(4):175-181. PubMed ID: 21738022
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.
    Hirai N; Matsune K; Ohashi H
    Am J Med Genet A; 2011 Dec; 155A(12):2933-9. PubMed ID: 22012791
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
    Türkmen S; Gillessen-Kaesbach G; Meinecke P; Albrecht B; Neumann LM; Hesse V; Palanduz S; Balg S; Majewski F; Fuchs S; Zschieschang P; Greiwe M; Mennicke K; Kreuz FR; Dehmel HJ; Rodeck B; Kunze J; Tinschert S; Mundlos S; Horn D
    Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
    Han JY; Lee IG; Jang W; Shin S; Park J; Kim M
    Clin Chim Acta; 2017 Jul; 470():31-35. PubMed ID: 28457852
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
    Park SH; Lee JE; Sohn YB; Ko JM
    Ann Clin Lab Sci; 2014; 44(2):228-31. PubMed ID: 24795065
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion of NSD1 exon 14 in Sotos syndrome: first description.
    Piccione M; Consiglio V; Di Fiore A; Grasso M; Cecconi M; Perroni L; Corsello G
    J Genet; 2011 Apr; 90(1):119-23. PubMed ID: 21677396
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.