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Author/Creator Davidson, Alice E.

1. A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity. Issue 3 (20th December 2013)

Authors:
Borman, Arundhati Dev; Pearce, Laura R.; Mackay, Donna S.; Nagel‐Wolfrum, Kerstin; Davidson, Alice E.; Henderson, Robert; Garg, Sumedha; Waseem, Naushin H.; Webster, Andrew R.; Plagnol, Vincent; Wolfrum, Uwe; Farooqi, I. Sadaf; Moore, Anthony T.
Journal:
Human mutation
Issue:
Volume 35:Issue 3(2014:Mar.)
Page Start:
289
Record Type:
Journal Article
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3. Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3. (1st December 2014)

Authors:
Evans, Cerys J.; Liskova, Petra; Dudakova, Lubica; Hrabcikova, Pavlina; Horinek, Ales; Jirsova, Katerina; Filipec, Martin; Hardcastle, Alison J.; Davidson, Alice E.; Tuft, Stephen J.
Journal:
Annals of human genetics
Issue:
Volume 79:Number 1(2015:Jan.)
Page Start:
1
Record Type:
Journal Article
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4. Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). Issue 4 (April 2015)

Authors:
Jonsson, Frida; Byström, Berit; Davidson, Alice E.; Backman, Ludvig J.; Kellgren, Therese G.; Tuft, Stephen J.; Koskela, Timo; Rydén, Patrik; Sandgren, Ola; Danielson, Patrik; Hardcastle, Alison J.; Golovleva, Irina
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
463
Record Type:
Journal Article
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5. Novel disease‐causing variants and phenotypic features of X‐linked megalocornea. Issue 4 (13th October 2021)

Authors:
Dudakova, Lubica; Tuft, Stephen; Cheong, Sek‐Shir; Skalicka, Pavlina; Jedlickova, Jana; Fichtl, Marek; Hlozanek, Martin; Filous, Ales; Vaneckova, Manuela; Vincent, Andrea L.; Hardcastle, Alison J.; Davidson, Alice E.; Liskova, Petra
Journal:
Acta ophthalmologica
Issue:
Volume 100:Issue 4(2022)
Page Start:
431
Record Type:
Journal Article
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6. RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy. Issue 3 (17th January 2013)

Authors:
Davidson, Alice E.; Sergouniotis, Panagiotis I.; Mackay, Donna S.; Wright, Genevieve A.; Waseem, Naushin H.; Michaelides, Michel; Holder, Graham E.; Robson, Anthony G.; Moore, Anthony T.; Plagnol, Vincent; Webster, Andrew R.
Journal:
Human mutation
Issue:
Volume 34:Issue 3(2013:Mar.)
Page Start:
506
Record Type:
Journal Article
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7. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 1 (30th October 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, [Sten; de, Elfride; Benn...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
150
Record Type:
Journal Article
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8. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de, Elfride; Benne...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1537
Record Type:
Journal Article
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9. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de Baere, Elf...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗