Churchill A - Search Results

1

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P. Shah S, et al. Among authors: churchill a. Eur J Paediatr Neurol. 2010 Mar;14(2):182-7. doi: 10.1016/j.ejpn.2009.04.010. Epub 2009 May 28. Eur J Paediatr Neurol. 2010. PMID: 19477666

2

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Mitchell TN, et al. Among authors: churchill aj. Ann Neurol. 2003 May;53(5):658-63. doi: 10.1002/ana.10576. Ann Neurol. 2003. PMID: 12731001

3

Clinical Reasoning: Complex ataxia: Unpicking the threads.

Abkur T, Vijayakumar K, Churchill AJ, Stevens J. Abkur T, et al. Neurology. 2020 Jul 21;95(3):136-141. doi: 10.1212/WNL.0000000000009886. Epub 2020 Jul 6. Neurology. 2020. PMID: 32631919 No abstract available.

4

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR. Maubaret CG, et al. Among authors: churchill a. Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9304-9. doi: 10.1167/iovs.11-8372. Invest Ophthalmol Vis Sci. 2011. PMID: 22039234

5

New macular findings in individuals with biallelic KLHL7 gene mutation.

Heng LZ, Kennedy J, Smithson S, Newbury-Ecob R, Churchill A. Heng LZ, et al. Among authors: churchill a. BMJ Open Ophthalmol. 2019 Feb 16;4(1):e000234. doi: 10.1136/bmjophth-2018-000234. eCollection 2019. BMJ Open Ophthalmol. 2019. PMID: 30997404 Free PMC article.

6

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.

Nguyen DQ, Hosseini M, Billingsley G, Héon E, Churchill AJ. Nguyen DQ, et al. Acta Ophthalmol. 2010 Sep;88(6):695-9. doi: 10.1111/j.1755-3768.2009.01511.x. Acta Ophthalmol. 2010. PMID: 19432861 Free article.

7

Quantitative MR image analysis in subjects with defects in the PAX6 gene.

Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Free SL, et al. Among authors: churchill aj. Neuroimage. 2003 Dec;20(4):2281-90. doi: 10.1016/j.neuroimage.2003.07.001. Neuroimage. 2003. PMID: 14683729

8

A new set of primers for mutation analysis of the human PAX6 gene.

Love J, Axton R, Churchill A, van Heyningen V, Hanson I. Love J, et al. Among authors: churchill a. Hum Mutat. 1998;12(2):128-34. doi: 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N. Hum Mutat. 1998. PMID: 9671274

9

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. Hanson I, et al. Among authors: churchill a. Hum Mol Genet. 1999 Feb;8(2):165-72. doi: 10.1093/hmg/8.2.165. Hum Mol Genet. 1999. PMID: 9931324

10

Prenatal diagnosis of aniridia.

Churchill AJ, Hanson IM, Markham AF. Churchill AJ, et al. Ophthalmology. 2000 Jun;107(6):1153-6. doi: 10.1016/s0161-6420(00)00093-2. Ophthalmology. 2000. PMID: 10857836

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

187 results

Search Page