Ophthalmology

Nail patella syndrome: a review of the phenotype aided by developmental biology
E Sweeney, A Fryer, R Mountford, A Green, I McIntosh

Journal of Medical Genetics Mar 2003, 40 (3) 153-162; DOI: 10.1136/jmg.40.3.153
Development of a genotyping microarray for Usher syndrome
Frans P M Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W R J Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes C Fleischhauer, Wolfgang Berger, Phil M Kelley, Elene Haralambous, Maria Bitner-Glindzicz, Andrew R Webster, Zubin Saihan, Elfride De Baere, Bart P Leroy, Giuliana Silvestri, Gareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, Hannie Kremer

Journal of Medical Genetics Feb 2007, 44 (2) 153-160; DOI: 10.1136/jmg.2006.044784
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
A Arora, P J Minogue, X Liu, P K Addison, I Russel-Eggitt, A R Webster, D M Hunt, L Ebihara, E C Beyer, V M Berthoud, A T Moore

Journal of Medical Genetics Mar 2008, 45 (3) 155-160; DOI: 10.1136/jmg.2007.051029
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, A J Griffith

Journal of Medical Genetics Feb 2005, 42 (2) 159-165; DOI: 10.1136/jmg.2004.024208
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell

Journal of Medical Genetics Jan 2002, 39 (1) 16-22; DOI: 10.1136/jmg.39.1.16
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

Journal of Medical Genetics Feb 1999, 36 (2) 161-166; DOI: 10.1136/jmg.36.2.161
A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
F Brancati, E M Valente, A Sarkozy, J Fehèr, M Castori, P Del Duca, R Mingarelli, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Mar 2004, 41 (3) 188-192; DOI: 10.1136/jmg.2003.012872
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3
E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, V Timmerman

Journal of Medical Genetics Mar 2004, 41 (3) 193-197; DOI: 10.1136/jmg.2003.012633
The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
R G F Gray, P A Davies, A Marshall, S K Heath

Journal of Medical Genetics Mar 2002, 39 (3) 204-205; DOI: 10.1136/jmg.39.3.204
An aetiological study of 25 mentally retarded adults with autism
C D M van Karnebeek, I van Gelderen, G J Nijhof, N G Abeling, P Vreken, E J Redeker, A M van Eeghen, J M N Hoovers, R C M Hennekam

Journal of Medical Genetics Mar 2002, 39 (3) 205-213; DOI: 10.1136/jmg.39.3.205

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