Eye Diseases

Citations 221-224 of 224 total displayed.

Short reports
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Ben C J Hamel, Pieter Wesseling, Willy O Renier, Bellinda van den Helm, Hans-Hilger Ropers, Hannie Kremer, Edwin C M Mariman
J. Med. Genet. 1999; 36: 140-143. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Homozygosity mapping to the USH2A locus in two isolated populations

T Fagerheim, P Raeymaekers, J Merren, K Mani, G K Jha, L Baumbach, V Brox, E Breines, B E Holdø, A Holdø, L Tranebjærg
J. Med. Genet. 1999; 36: 144-147. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

L I Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork
J. Med. Genet. 1999; 36: 161-166. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

Algirdas Utkus, Irina Sorokina, Vaidutis Kucinskas, Benno Röthlisberger, Damina Balmer, Lukrecija Brecevic, Albert Schinzel
J. Med. Genet. 1999; 36: 73-76. [Abstract] [Full text] [PDF] [Request Permissions]