These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 15365454)

  • 1. Clinical features of NSD1-positive Sotos syndrome.
    Tatton-Brown K; Rahman N
    Clin Dysmorphol; 2004 Oct; 13(4):199-204. PubMed ID: 15365454
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sotos syndrome.
    Tatton-Brown K; Rahman N
    Eur J Hum Genet; 2007 Mar; 15(3):264-71. PubMed ID: 16969376
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 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. Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
    Rio M; Clech L; Amiel J; Faivre L; Lyonnet S; Le Merrer M; Odent S; Lacombe D; Edery P; Brauner R; Raoul O; Gosset P; Prieur M; Vekemans M; Munnich A; Colleaux L; Cormier-Daire V
    J Med Genet; 2003 Jun; 40(6):436-40. PubMed ID: 12807965
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
    Fagali C; Kok F; Nicola P; Kim C; Bertola D; Albano L; Koiffmann CP
    Eur J Med Genet; 2009; 52(5):333-6. PubMed ID: 19596467
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 155A(9):2105-11. PubMed ID: 21834047
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.
    Douglas J; Tatton-Brown K; Coleman K; Guerrero S; Berg J; Cole TR; Fitzpatrick D; Gillerot Y; Hughes HE; Pilz D; Raymond FL; Temple IK; Irrthum A; Schouten JP; Rahman N
    J Med Genet; 2005 Sep; 42(9):e56. PubMed ID: 16140999
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
    Tatton-Brown K; Douglas J; Coleman K; Baujat G; Chandler K; Clarke A; Collins A; Davies S; Faravelli F; Firth H; Garrett C; Hughes H; Kerr B; Liebelt J; Reardon W; Schaefer GB; Splitt M; Temple IK; Waggoner D; Weaver DD; Wilson L; Cole T; Cormier-Daire V; Irrthum A; Rahman N;
    J Med Genet; 2005 Apr; 42(4):307-13. PubMed ID: 15805156
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
    Matsuo T; Ihara K; Ochiai M; Kinjo T; Yoshikawa Y; Kojima-Ishii K; Noda M; Mizumoto H; Misaki M; Minagawa K; Tominaga K; Hara T
    Am J Med Genet A; 2013 Jan; 161A(1):34-7. PubMed ID: 23239432
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].
    Kessler H; Kraft S
    Neuropsychiatr; 2008; 22(1):38-42. PubMed ID: 18381056
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.