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10 in total

1. The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age.

Authors: M A Parsons; D Curtis; C E Blank; H N Hughes; A C McCartney
Journal: Graefes Arch Clin Exp Ophthalmol Date: 1992 Impact factor: 3.117

2. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Authors: Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias I Traboulsi; Karl W Broman; Cathy Dibernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg
Journal: Proc Natl Acad Sci U S A Date: 2005-06-23 Impact factor: 11.205

3. Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.

Authors: R M Winter; A Garner
Journal: J Med Genet Date: 1981-08 Impact factor: 6.318

4. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.

Authors: N Ohba; T Yamashita
Journal: Br J Ophthalmol Date: 1986-01 Impact factor: 4.638

5. Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors: L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal: Hum Genet Date: 1985 Impact factor: 4.132

6. Optic nerve hypoplasia in association with brain anomalies and an abnormal electroretinogram.

Authors: G W Cibis; K M Fitzgerald
Journal: Doc Ophthalmol Date: 1994 Impact factor: 2.379

7. Microcephaly, microphthalmos, and retinal folds: report of a family.

Authors: I D Young; A R Fielder; K Simpson
Journal: J Med Genet Date: 1987-03 Impact factor: 6.318

8. Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

Authors: C I Phillips; M Newton; J Duvall; S Holloway; A M Levy
Journal: Br J Ophthalmol Date: 1986-04 Impact factor: 4.638

9. A fetus with an X;1 balanced reciprocal translocation and eye disease.

Authors: M J Seller; K Pal; S Horsley; A F Davies; A C Berry; R Meredith; A C McCartney
Journal: J Med Genet Date: 1995-07 Impact factor: 6.318

10. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.

Authors: Noor M Ghiasvand; Dellaney D Rudolph; Mohammad Mashayekhi; Joseph A Brzezinski; Daniel Goldman; Tom Glaser
Journal: Nat Neurosci Date: 2011-03-27 Impact factor: 24.884

10 in total