Search Results - "Howarth, Rachel J"

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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Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains by Cross, Esther, Duncan-Flavell, Philippa J., Howarth, Rachel J., Crooks, Richard O., Thomas, N. Simon, Bunyan, David J.

“…Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal…”
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Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia by Robinson, David O., Howarth, Rachel J., Williamson, Kathleen A., van Heyningen, Veronica, Beal, Sarah J., Crolla, John A.

“…A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other…”
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Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation by Ticho, Benjamin H., Hilchie-Schmidt, Clair, Egel, Robert T., Traboulsi, Elias I., Howarth, Rachel J., Robinson, David

“…Background: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia…”
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Genetic Analysis of Chromosome 11pl3 and the PAX6 Gene in a Series of 125 Cases Referred With Aniridia by ROBINSON, David O, HOWARTH, Rachel J, WILLIAMSON, Kathleen A, VAN HEYNINGEN, Veronica, BEAL, Sarah J, CROLLA, John A

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