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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. Among authors: rahman n. 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.
Evaluation of NSD2 and NSD3 in overgrowth syndromes.
Douglas J, Coleman K, Tatton-Brown K, Hughes HE, Temple IK, Cole TR, Rahman N; Childhood Overgrowth Collaboration. Douglas J, et al. Among authors: rahman n. Eur J Hum Genet. 2005 Feb;13(2):150-3. doi: 10.1038/sj.ejhg.5201298. Eur J Hum Genet. 2005. PMID: 15483650
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. van Haelst MM, et al. Among authors: rahman n. Am J Med Genet A. 2005 Nov 15;139(1):40-4. doi: 10.1002/ajmg.a.30973. Am J Med Genet A. 2005. PMID: 16222665
Sotos syndrome.
Tatton-Brown K, Rahman N. Tatton-Brown K, et al. Among authors: rahman n. Eur J Hum Genet. 2007 Mar;15(3):264-71. doi: 10.1038/sj.ejhg.5201686. Epub 2006 Sep 13. Eur J Hum Genet. 2007. PMID: 16969376
The NSD1 and EZH2 overgrowth genes, similarities and differences.
Tatton-Brown K, Rahman N. Tatton-Brown K, et al. Among authors: rahman n. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):86-91. doi: 10.1002/ajmg.c.31359. Epub 2013 Apr 16. Am J Med Genet C Semin Med Genet. 2013. PMID: 23592277 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Among authors: rahman n. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: rahman n. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.
Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjöld M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM. Rahman N, et al. Am J Hum Genet. 2003 Jul;73(1):198-204. doi: 10.1086/376416. Epub 2003 May 29. Am J Hum Genet. 2003. PMID: 12776252 Free PMC article.
1,950 results