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 *

135 related articles for article (PubMed ID: 20101679)

  • 41. 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]  

  • 42. Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.
    Lui JC; Barnes KM; Dong L; Yue S; Graber E; Rapaport R; Dauber A; Nilsson O; Baron J
    J Clin Endocrinol Metab; 2018 Apr; 103(4):1470-1478. PubMed ID: 29244146
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. Left ventricular noncompaction in Sotos syndrome.
    Martinez HR; Belmont JW; Craigen WJ; Taylor MD; Jefferies JL
    Am J Med Genet A; 2011 May; 155A(5):1115-8. PubMed ID: 21484993
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
    Tatton-Brown K; Hanks S; Ruark E; Zachariou A; Duarte Sdel V; Ramsay E; Snape K; Murray A; Perdeaux ER; Seal S; Loveday C; Banka S; Clericuzio C; Flinter F; Magee A; McConnell V; Patton M; Raith W; Rankin J; Splitt M; Strenger V; Taylor C; Wheeler P; Temple KI; Cole T; ; Douglas J; Rahman N
    Oncotarget; 2011 Dec; 2(12):1127-33. PubMed ID: 22190405
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. Sotos syndrome.
    Baujat G; Cormier-Daire V
    Orphanet J Rare Dis; 2007 Sep; 2():36. PubMed ID: 17825104
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Three novel mutations in greek sotos patients with rare clinical manifestations.
    Leventopoulos G; Kitsiou-Tzeli S; Psoni S; Mavrou A; Kanavakis E; Willems P; Fryssira H
    Horm Res; 2009 Jan; 71(1):45-51. PubMed ID: 19039236
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A Japanese male infant with the Weaver syndrome.
    Kondo I; Mori Y; Kuwajima K
    Jinrui Idengaku Zasshi; 1990 Sep; 35(3):257-62. PubMed ID: 2266602
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Speech-language characteristics of children with Sotos syndrome.
    Ball LJ; Sullivan MD; Dulany S; Stading K; Schaefer GB
    Am J Med Genet A; 2005 Aug; 136A(4):363-7. PubMed ID: 16001444
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
    Kotilainen J; Pohjola P; Pirinen S; Arte S; Nieminen P
    Am J Med Genet A; 2009 Nov; 149A(11):2409-14. PubMed ID: 19876911
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
    van Asperen CJ; Overweg-Plandsoen WC; Cnossen MH; van Tijn DA; Hennekam RC
    J Med Genet; 1998 Apr; 35(4):323-7. PubMed ID: 9598729
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. 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]  

  • 55. Hormonal and genetical assessment of a Japanese girl with weaver syndrome.
    Miyoshi Y; Taniike M; Mohri I; Mushiake S; Nakajima S; Matsumoto N; Ozono K
    Clin Pediatr Endocrinol; 2004; 13(1):17-23. PubMed ID: 24790293
    [TBL] [Abstract][Full Text] [Related]  

  • 56. The syndromes of Sotos and Weaver: reports and review.
    Opitz JM; Weaver DW; Reynolds JF
    Am J Med Genet; 1998 Oct; 79(4):294-304. PubMed ID: 9781911
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
    Nagai T; Matsumoto N; Kurotaki N; Harada N; Niikawa N; Ogata T; Imaizumi K; Kurosawa K; Kondoh T; Ohashi H; Tsukahara M; Makita Y; Sugimoto T; Sonoda T; Yokoyama T; Uetake K; Sakazume S; Fukushima Y; Naritomi K
    J Med Genet; 2003 Apr; 40(4):285-9. PubMed ID: 12676901
    [No Abstract]   [Full Text] [Related]  

  • 58. 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]  

  • 59. Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene.
    Kamal NM; Althobiti JM; Alsaedi A; Bakkar A; Alkaabi T
    Medicine (Baltimore); 2018 Nov; 97(47):e12867. PubMed ID: 30461603
    [TBL] [Abstract][Full Text] [Related]  

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

    [Previous]   [Next]    [New Search]
    of 7.