Affiliation: Birmingham Women's Hospital
- The tale of a nail sign in chromosome 4q34 deletion syndromeJulie Vogt
Clinical Genetics Unit, Birmingham Women s Hospital, Edgbaston, West Midlands, UK
Clin Dysmorphol 15:127-32. 2006..All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34...
- Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2CJulie Vogt
Centre for Rare Diseases and Personalised Medicine, Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
Am J Med Genet A 161:338-42. 2013..In addition, marked phenotypic variation raises the possibility that more mildly affected patients are not currently identified...
- CHRNG genotype-phenotype correlations in the multiple pterygium syndromesJulie Vogt
Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
J Med Genet 49:21-6. 2012..In addition CHRNG mutations and mutations in other components of the embryonal acetylcholine receptor may present with fetal akinesia deformation sequence (FADS) without pterygia...
- Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patientsJulie Vogt
Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Am J Hum Genet 82:222-7. 2008..Functional studies were consistent with the hypothesis that whereas incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype...
- Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutationPaolo Prontera
Am J Med Genet A 143:1129. 2007