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

1,944 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: rahman n. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.
Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N. Douglas J, et al. Among authors: rahman n. J Med Genet. 2005 Sep;42(9):e56. doi: 10.1136/jmg.2005.031930. J Med Genet. 2005. PMID: 16140999 Free PMC article.
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. Scott RH, et al. Among authors: rahman n. J Med Genet. 2008 Feb;45(2):106-13. doi: 10.1136/jmg.2007.053207. Epub 2007 Oct 15. J Med Genet. 2008. PMID: 18245390
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K; FACT collaboration; Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N. Slade I, et al. Among authors: rahman n. J Med Genet. 2010 May;47(5):342-7. doi: 10.1136/jmg.2009.072983. Epub 2009 Nov 30. J Med Genet. 2010. PMID: 19948536
Case of interstitial 12q deletion in association with Wilms tumor.
Rapley EA, Hargrave D, Persinguhe N, Barfoot R, Moore I, Radford M, Stratton MR, Rahman N, Pritchard-Jones K. Rapley EA, et al. Among authors: rahman n. Am J Med Genet. 2001 Dec 1;104(3):246-9. Am J Med Genet. 2001. PMID: 11754052
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1.
Rahman N, Abidi F, Ford D, Arbour L, Rapley E, Tonin P, Barton D, Batcup G, Berry J, Cotter F, Davison V, Gerrard M, Gray E, Grundy R, Hanafy M, King D, Lewis I, Ridolfi Luethy A, Madlensky L, Mann J, O'Meara A, Oakhill T, Skolnick M, Strong L, Stratton MR, et al. Rahman N, et al. Hum Genet. 1998 Nov;103(5):547-56. doi: 10.1007/pl00008708. Hum Genet. 1998. PMID: 9860296
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Among authors: rahman n. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.
Gene-gene interactions in breast cancer susceptibility.
Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), EMBRACE; Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N. Turnbull C, et al. Among authors: rahman n. Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9. Hum Mol Genet. 2012. PMID: 22072393 Free PMC article.
1,944 results