BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 15455365)

  • 1. Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
    Deardorff MA; Maisenbacher M; Zackai EH
    Am J Med Genet A; 2004 Nov; 130A(4):393-4. PubMed ID: 15455365
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
    Kanemoto N; Kanemoto K; Nishimura G; Kamoda T; Visser R; Shimokawa O; Matsumoto N
    Am J Med Genet A; 2006 Jan; 140(1):70-3. PubMed ID: 16329110
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
    Dikow N; Maas B; Gaspar H; Kreiss-Nachtsheim M; Engels H; Kuechler A; Garbes L; Netzer C; Neuhann TM; Koehler U; Casteels K; Devriendt K; Janssen JW; Jauch A; Hinderhofer K; Moog U
    Am J Med Genet A; 2013 Sep; 161A(9):2158-66. PubMed ID: 23913520
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.
    Abdalla E; Bartsch O; Galetzka D; Zechner U
    Am J Med Genet A; 2017 Apr; 173(4):1090-1093. PubMed ID: 28328121
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
    Franco LM; de Ravel T; Graham BH; Frenkel SM; Van Driessche J; Stankiewicz P; Lupski JR; Vermeesch JR; Cheung SW
    Eur J Hum Genet; 2010 Feb; 18(2):258-61. PubMed ID: 19844260
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Molecular basis of Sotos syndrome.
    Niikawa N
    Horm Res; 2004; 62 Suppl 3():60-5. PubMed ID: 15539801
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.