N. D.
- Burgess,
- P.W.,
- Alderman,
- N.,
- Forbes,
- C.,
- ...
Mixed glioneuronal tumour of the fourth ventricle with prominent rosette formation. (2006)
- Jacques,
- T.S.,
- Eldridge,
- C.,
- Patel,
- A.,
- ...
Renal malformations are common human birth defects that sometimes occur in the context of the caudal regression syndrome. Here, we found that exposure of pregnant mice to all- trans retinoic acid, at...
In vivo genetic ablation by Cre-mediated expression of diphtheria toxin fragment A (2005)
- Ivanova,
- A.,
- Signore,
- M.,
- Caro,
- N.,
- ...
We generated a ROSA26-eGFP-DTA mouse line by introducing an eGFP-DTA (enhanced green fluorescent protein - diphtheria toxin fragment A) cassette into the ROSA26 locus by homologous recombination in...
Common arterial trunk associated with a homeodomain mutation of NKX2.6 (2005)
- Heathcote,
- K.,
- Braybrook,
- C.,
- Abushaban,
- L.,
- ...
Persistent truncus arteriosus (PTA) is a failure of septation of the cardiac outflow tract (OFT) into the pulmonary artery and the aorta. A common arterial trunk (CAT) is often diagnosed as PTA in...
Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous system (2005)
Zic genes comprise a family of transcription factors, characterized by the presence of a zinc-finger domain containing two cysteines and two histidines (C2-H2). Whereas the embryonic expression...
A major quantitative trait locus (QTL) determining leptin levels has been linked to the proopiomelanocortin ( POMC) region on chromosome 2. Most studies, based on under 350 lean or obese subjects,...
PURPOSE: To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a...
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy (2005)
- El Ashry,
- M.F.,
- Abd El-Aziz,
- M.M.,
- Shalaby,
- O.,
- ...
PURPOSE: To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene. DESIGN: Case reports...
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients (2005)
BACKGROUND: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation...
Clinical and molecular characterization of a family with autosomal recessive cornea plana (2005)
BACKGROUND: Autosomal recessive cornea plana is characterized by a flattened corneal surface associated with hyperopia and various anterior segment abnormalities. Mutations have been detected in the...
- Gwilliam,
- R.,
- Liskova,
- P.,
- Filipec,
- M.,
- ...
PURPOSE: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet's membrane. In the Czech Republic, PPCD is one of the...
Cardiac abnormalities in patients with Leber's hereditary optic neuropathy (2003)
- Sorajja,
- P.,
- Sweeney,
- M.G.,
- Chalmers,
- R.,
- ...
PURPOSE: Mutations in the forkhead transcription factor gene FOXC1 on 6p25 cause a range of ocular developmental abnormalities, with associated glaucoma. However, FOXC1 mutations have not been found...
- Dean,
- B.S.,
- Barber,
- N.D.,
- Van Ackere,
- A.,
- ...
- Jouvet,
- P.,
- Rustin,
- P.,
- Taylor,
- D.L.,
- ...