Hereditary eye disease

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28
A Melamud, G-Q Shen, D Chung, Q Xi, E Simpson, L Li, N S Peachey, H Zegarra, S A Hagstrom, Q K Wang, E I Traboulsi

Journal of Medical Genetics Jun 2006, 43 (6) e27; DOI: 10.1136/jmg.2005.031518
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi

Journal of Medical Genetics Jan 2005, 42 (1) e4; DOI: 10.1136/jmg.2004.023416
Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status
SUSANNE MERGENTHALER, KATJA EGGERMANN, JÜRGEN TOMIUK, MICHAEL B RANKE, HARTMUT A WOLLMANN, THOMAS EGGERMANN

Journal of Medical Genetics Dec 2000, 37 (12) e44; DOI: 10.1136/jmg.37.12.e44
Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
METTE WARBURG, RUTH RIISE

Journal of Medical Genetics Dec 2000, 37 (12) e46; DOI: 10.1136/jmg.37.12.e46
De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity
S James Talks, Neil Ebenezer, Phil Hykin, Gill Adams, Fung Yang, E Schulenberg, Kevin Gregory-Evans, Cheryl Y Gregory-Evans

Journal of Medical Genetics Dec 2001, 38 (12) e46; DOI: 10.1136/jmg.38.12.e46
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
C Ziviello, F Simonelli, F Testa, M Anastasi, S B Marzoli, B Falsini, D Ghiglione, C Macaluso, M P Manitto, C Garrè, A Ciccodicola, E Rinaldi, S Banfi

Journal of Medical Genetics Jul 2005, 42 (7) e47; DOI: 10.1136/jmg.2005.031682
Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25)
I MARCOS, A RUIZ, C J BLASCHAK, S BORREGO, G R CUTTING, G ANTIÑOLO

Journal of Medical Genetics Jun 2000, 37 (6) e5; DOI: 10.1136/jmg.37.6.e5
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
V A Street, J C Kallman, K L Kiemele

Journal of Medical Genetics May 2004, 41 (5) e62; DOI: 10.1136/jmg.2003.013557
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa
E Paloma, A Martínez-Mir, B García-Sandoval, C Ayuso, L Vilageliu, R Gonzàlez-Duarte, S Balcells

Journal of Medical Genetics Oct 2002, 39 (10) e66; DOI: 10.1136/jmg.39.10.e66
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
J C Booij, R J Florijn, J B ten Brink, W Loves, F Meire, M J van Schooneveld, P TVM de Jong, A A B Bergen

Journal of Medical Genetics Nov 2005, 42 (11) e67; DOI: 10.1136/jmg.2005.035121

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