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NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Am J Hum Genet. 2003 Jan;72(1):132-43. doi: 10.1086/345647. Epub 2002 Dec 2.
Am J Hum Genet. 2003.
PMID: 12464997
Free PMC article.
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.
Türkmen S, et al.
Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050.
Eur J Hum Genet. 2003.
PMID: 14571271
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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; Childhood Overgrowth Collaboration.
Tatton-Brown K, et al.
Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7.
Am J Hum Genet. 2005.
PMID: 15942875
Free PMC article.
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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.
Waggoner DJ, et al.
Genet Med. 2005 Oct;7(8):524-33. doi: 10.1097/01.GIM.0000178503.15559.d3.
Genet Med. 2005.
PMID: 16247291
Free article.
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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.
Mochizuki J, et al.
Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 2008 May 25.
Clin Genet. 2008.
PMID: 18505455
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Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D.
Kenny J, et al.
Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20.
Pediatr Nephrol. 2011.
PMID: 21597970
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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
Miyatake S, et al.
J Hum Genet. 2015 Apr;60(4):175-82. doi: 10.1038/jhg.2014.124. Epub 2015 Jan 22.
J Hum Genet. 2015.
PMID: 25608832
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