Search Results - "Hobbs, James I."

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain by Cross, Esther, Duncan‐Flavell, Philippa J., Howarth, Rachel J., Hobbs, James I., Thomas, Nicholas Simon, Bunyan, David J.

“…Pathogenic variants within the CREBBP and EP300 genes account for the majority of individuals with Rubinstein–Taybi syndrome (RSTS). Data are presented from a…”
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Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility by J. Bunyan, David J. Bunyan, Saran, Mili, I Hobbs, James, J Anderson, David, J. Duncan-Flavell, Philippa, J Howarth, Rachel, L.A. Callaway, Jonathan, N MacPherson, James

“…Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the…”
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Rare dosage abnormalities flanking the SHOX gene by Bunyan, David J, Gevers, Evelien, Hobbs, James I, Duncan-Flavell, Philippa J, Howarth, Rachel J, Holder-Espinasse, Muriel, Klee, Philippe

“…Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved…”
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