Hughes H - Search Results

1

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. Cheadle JP, et al. Among authors: hughes h. Hum Mol Genet. 2000 Apr 12;9(7):1119-29. doi: 10.1093/hmg/9.7.1119. Hum Mol Genet. 2000. PMID: 10767337

2

Twenty-four cases of the EEC syndrome: clinical presentation and management.

Buss PW, Hughes HE, Clarke A. Buss PW, et al. Among authors: hughes he. J Med Genet. 1995 Sep;32(9):716-23. doi: 10.1136/jmg.32.9.716. J Med Genet. 1995. PMID: 8544192 Free PMC article.

3

Contracting for clinical genetic services: the Welsh model.

Hughes HE, Alderman JK, Krawczak M, Rogers C. Hughes HE, et al. J Med Genet. 1998 Apr;35(4):309-13. doi: 10.1136/jmg.35.4.309. J Med Genet. 1998. PMID: 9598726 Free PMC article.

4

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.

5

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, Vaughan M, Wilkie AO, Hughes HE. Upadhyaya M, et al. Among authors: hughes he. J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148. J Med Genet. 1996. PMID: 8929953 Free PMC article.

6

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

Reardon W, Roberts S, Phelps PD, Thomas NS, Beck L, Issac R, Hughes HE. Reardon W, et al. Among authors: hughes he. Am J Med Genet. 1992 Nov 1;44(4):513-7. doi: 10.1002/ajmg.1320440427. Am J Med Genet. 1992. PMID: 1442898

7

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; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.

8

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. 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.

9

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.

10

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. Douglas J, et al. 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.

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