Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

351 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: futreal pa. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR; CHEK2-Breast Cancer Consortium. Meijers-Heijboer H, et al. Among authors: futreal pa. Nat Genet. 2002 May;31(1):55-9. doi: 10.1038/ng879. Epub 2002 Apr 22. Nat Genet. 2002. PMID: 11967536
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. Rahman N, et al. Among authors: futreal pa. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.
Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, Eccles D, Meijers C, Lohman F, Klijn J, van den Ouweland A, Futreal PA, Nathanson KL, Weber BL, Easton DF, Stratton MR, Rahman N; Breast Cancer Linkage Consortium. Schutte M, et al. Among authors: futreal pa. Am J Hum Genet. 2003 Apr;72(4):1023-8. doi: 10.1086/373965. Epub 2003 Feb 27. Am J Hum Genet. 2003. PMID: 12610780 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. Among authors: futreal pa. 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.
High-resolution analysis of DNA copy number using oligonucleotide microarrays.
Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R. Bignell GR, et al. Among authors: futreal pa. Genome Res. 2004 Feb;14(2):287-95. doi: 10.1101/gr.2012304. Genome Res. 2004. PMID: 14762065 Free PMC article.
A census of human cancer genes.
Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR. Futreal PA, et al. Nat Rev Cancer. 2004 Mar;4(3):177-83. doi: 10.1038/nrc1299. Nat Rev Cancer. 2004. PMID: 14993899 Free PMC article. Review.
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Tarpey P, et al. Among authors: futreal pa. Am J Hum Genet. 2004 Aug;75(2):318-24. doi: 10.1086/422703. Epub 2004 Jun 7. Am J Hum Genet. 2004. PMID: 15185169 Free PMC article.
Cancer: understanding the target.
Stratton MR, Futreal PA. Stratton MR, et al. Among authors: futreal pa. Nature. 2004 Jul 1;430(6995):30. doi: 10.1038/430030a. Nature. 2004. PMID: 15229590 No abstract available.
A survey of RNA editing in human brain.
Blow M, Futreal PA, Wooster R, Stratton MR. Blow M, et al. Among authors: futreal pa. Genome Res. 2004 Dec;14(12):2379-87. doi: 10.1101/gr.2951204. Epub 2004 Nov 15. Genome Res. 2004. PMID: 15545495 Free PMC article.
351 results