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Genetic Testing|July 26, 2008
Multiple de novo mutations in the MECP2 geneDavid J Bunyan, David O RobinsonEuropean Journal of Medical Genetics|May 12, 2019
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutationsDavid J Bunyan, N Simon ThomasJournal of Reproduction & Infertility|August 9, 2013
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification AssayDavid J Bunyan, Jonathan L A Callaway, Nadja LaddachAmerican Journal of Medical Genetics. Part A|August 16, 2014
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effectDavid J Bunyan, Emma-Jane Taylor, Vivienne K Maloney, et al.American Journal of Medical Genetics. Part A|May 3, 2013
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effectDavid J Bunyan, Kevin R Baker, John F Harvey, et al.Genetics Research|January 30, 2014
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variantJane Gibson, Rodney D Gilbert, David J Bunyan, et al.European Journal of Medical Genetics|May 4, 2020
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domainsEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.Clinical Genetics|September 23, 2022
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney diseaseEleanor G Seaby, Steven Turner, David J Bunyan, et al.American Journal of Medical Genetics. Part A|August 23, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domainEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.Cytogenetic and Genome Research|March 17, 2023
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsDavid J Bunyan, James I Hobbs, Philippa J Duncan-Flavell, et al.Pageof 4