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

130 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Bakrania P, et al. Among authors: collin jr. Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252212 Free PMC article.
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Ragge NK, et al. Among authors: collin jr. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21. Am J Hum Genet. 2005. PMID: 15846561 Free PMC article.
Mutations in SOX2 cause anophthalmia.
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Fantes J, et al. Among authors: collin jr. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612584
SOX2 anophthalmia syndrome.
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. Ragge NK, et al. Among authors: collin jr. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. Am J Med Genet A. 2005. PMID: 15812812
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK. Gestri G, et al. Among authors: collin jr. Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x. Hum Genet. 2009. PMID: 19685247 Free PMC article.
130 results