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

117 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Among authors: sowden jc. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
Genes and pathways in optic fissure closure.
Patel A, Sowden JC. Patel A, et al. Among authors: sowden jc. Semin Cell Dev Biol. 2019 Jul;91:55-65. doi: 10.1016/j.semcdb.2017.10.010. Epub 2017 Dec 6. Semin Cell Dev Biol. 2019. PMID: 29198497 Review.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: sowden jc. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Reply.
Sowden JC, Patel A, Dahlmann-Noor A, Cullup T, Jenkins L. Sowden JC, et al. Ophthalmology. 2020 Apr;127(4):e22-e23. doi: 10.1016/j.ophtha.2019.12.020. Ophthalmology. 2020. PMID: 32200847 No abstract available.
117 results