Colley A - Search Results

1

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

Colley A, Donnai D, Evans DG. Colley A, et al. Clin Genet. 1996 Feb;49(2):59-64. doi: 10.1111/j.1399-0004.1996.tb04328.x. Clin Genet. 1996. PMID: 8740913

2

Unbalanced 13;18 translocation and Williams syndrome.

Colley A, Thakker Y, Ward H, Donnai D. Colley A, et al. J Med Genet. 1992 Jan;29(1):63-5. doi: 10.1136/jmg.29.1.63. J Med Genet. 1992. PMID: 1552549 Free PMC article.

3

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Dixon MJ, et al. Among authors: colley a. Am J Hum Genet. 1991 Jul;49(1):17-22. Am J Hum Genet. 1991. PMID: 1676560 Free PMC article.

4

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

Colley A, Lloyd IC, Ridgway A, Donnai D. Colley A, et al. J Med Genet. 1991 Nov;28(11):791-4. doi: 10.1136/jmg.28.11.791. J Med Genet. 1991. PMID: 1770538 Free PMC article.

5

De novo ring chromosome 3: a new case with a mild phenotype.

McKinley M, Colley A, Sinclair P, Donnai D, Andrews T. McKinley M, et al. Among authors: colley a. J Med Genet. 1991 Aug;28(8):536-8. doi: 10.1136/jmg.28.8.536. J Med Genet. 1991. PMID: 1920370 Free PMC article.

6

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Tassabehji M, et al. Among authors: colley a. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.

7

Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.

Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L. Benjamin CM, et al. Among authors: colley a. J Med Genet. 1993 Jul;30(7):567-74. doi: 10.1136/jmg.30.7.567. J Med Genet. 1993. PMID: 8411029 Free PMC article.

8

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.

Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG. Hadfield KD, et al. Among authors: colley a. J Med Genet. 2008 Jun;45(6):332-9. doi: 10.1136/jmg.2007.056499. Epub 2008 Feb 19. J Med Genet. 2008. PMID: 18285426

9

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.

10

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.

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