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 *

147 related articles for article (PubMed ID: 15720303)

  • 21. Haploinsufficiency of NSD1 causes Sotos syndrome.
    Kurotaki N; Imaizumi K; Harada N; Masuno M; Kondoh T; Nagai T; Ohashi H; Naritomi K; Tsukahara M; Makita Y; Sugimoto T; Sonoda T; Hasegawa T; Chinen Y; Tomita Ha HA; Kinoshita A; Mizuguchi T; Yoshiura Ki K; Ohta T; Kishino T; Fukushima Y; Niikawa N; Matsumoto N
    Nat Genet; 2002 Apr; 30(4):365-6. PubMed ID: 11896389
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A clinical study of Sotos syndrome patients with review of the literature.
    Leventopoulos G; Kitsiou-Tzeli S; Kritikos K; Psoni S; Mavrou A; Kanavakis E; Fryssira H
    Pediatr Neurol; 2009 May; 40(5):357-64. PubMed ID: 19380072
    [TBL] [Abstract][Full Text] [Related]  

  • 25. NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.
    Pasillas MP; Shah M; Kamps MP
    Hum Mutat; 2011 Mar; 32(3):292-8. PubMed ID: 21972110
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Low factor XII level in an individual with Sotos syndrome.
    Shen JJ; Kurotaki N; Patel A; Lupski JR; Brown CW
    Pediatr Blood Cancer; 2005 Feb; 44(2):187-9. PubMed ID: 15390361
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [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; 75(2):129-33. PubMed ID: 21482210
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
    Saugier-Veber P; Goldenberg A; Drouin-Garraud V; de La Rochebrochard C; Layet V; Drouot N; Le Meur N; Gilbert-Du-Ssardier B; Joly-Hélas G; Moirot H; Rossi A; Tosi M; Frébourg T
    Eur J Hum Genet; 2006 Sep; 14(9):1009-17. PubMed ID: 16773131
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
    Zechner U; Kohlschmidt N; Kempf O; Gebauer K; Haug K; Engels H; Haaf T; Bartsch O
    Eur J Med Genet; 2009; 52(5):306-10. PubMed ID: 19545651
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
    Pedrini E; De Luca A; Valente EM; Maini V; Capponcelli S; Mordenti M; Mingarelli R; Sangiorgi L; Dallapiccola B
    Hum Mutat; 2005 Sep; 26(3):280. PubMed ID: 16088908
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial gigantism caused by an NSD1 mutation.
    van Haelst MM; Hoogeboom JJ; Baujat G; Brüggenwirth HT; Van de Laar I; Coleman K; Rahman N; Niermeijer MF; Drop SL; Scambler PJ
    Am J Med Genet A; 2005 Nov; 139(1):40-4. PubMed ID: 16222665
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
    Muscarella LA; Piemontese MR; Barbano R; Fazio A; Guarnieri V; Quattrone A; Zelante L
    Biomol Eng; 2007 Jun; 24(2):231-6. PubMed ID: 17145200
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [NSD1 gene and congenital macrosomias].
    Gilgenkrantz S; Odent S
    Med Sci (Paris); 2004 Feb; 20(2):151-3. PubMed ID: 14997433
    [No Abstract]   [Full Text] [Related]  

  • 34. Evaluation of denaturing high-performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall-cell lung cancer.
    Cohen V; Agulnik JS; Jarry J; Batist G; Small D; Kreisman H; Tejada NA; Miller WH; Chong G
    Cancer; 2006 Dec; 107(12):2858-65. PubMed ID: 17096434
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Alu-related 5q35 microdeletions in Sotos syndrome.
    Mochizuki J; Saitsu H; Mizuguchi T; Nishimura A; Visser R; Kurotaki N; Miyake N; Unno N; Matsumoto N
    Clin Genet; 2008 Oct; 74(4):384-91. PubMed ID: 18505455
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ZFHX1B mutations in patients with Mowat-Wilson syndrome.
    Dastot-Le Moal F; Wilson M; Mowat D; Collot N; Niel F; Goossens M
    Hum Mutat; 2007 Apr; 28(4):313-21. PubMed ID: 17203459
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Gene symbol: NSD1. Disease: Sotos syndrome.
    Ellison J
    Hum Genet; 2008 Oct; 124(3):311. PubMed ID: 18846652
    [No Abstract]   [Full Text] [Related]  

  • 39. 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]  

  • 40. New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.
    Florijn RJ; Loves W; Maillette de Buy Wenniger-Prick LJ; Mannens MM; Tijmes N; Brooks SP; Hardcastle AJ; Bergen AA
    Eur J Hum Genet; 2006 Sep; 14(9):986-90. PubMed ID: 16736028
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.