Search Results - "ROBERTS, Sian E"

A Paternally Inherited Duplication in the Prader-Willi/Angelman Syndrome Critical Region: A Case and Family Study by Veltman, Marijcke W. M, Thompson, Russell J, Craig, Ellen E, Dennis, Nicholas R, Roberts, Sian E, Moore, Vanessa, Brown, Josie A, Bolton, Patrick F

“…The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism…”
Get full text

Prader-Willi syndrome: A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders by VELTMAN, Marijcke W. M, THOMPSON, Russell J, ROBERTS, Sian E, THOMAS, N. Simon, WHITTINGTON, Joyce, BOLTON, Patrick F

“…Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases…”
Get full text

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 by ROBERTS, Sian E, DENNIS, Nicholas R, BROWNE, Caroline E, WILLATT, Lionel, WOODS, C. Geoffrey, CROSS, Ian, JACOBS, Patricia A, THOMAS, N. Simon

“…Chromosome 15 is frequently involved in the formation of structural rearrangements. We report the molecular characterisation of 16 independent interstitial…”
Get full text

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders by Bolton, Patrick F, Veltman, Marijcke W M, Weisblatt, Emma, Holmes, Joanne R, Thomas, N Simon, Youings, Sheila A, Thompson, Russell J, Roberts, Siân E, Dennis, Nicholas R, Browne, Caroline E, Goodson, Sally, Moore, Vanessa, Brown, Josie

“…The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected…”
Get full text

Observation and Characterization of the Interaction between a Single Immunoglobulin Binding Domain of Protein L and Two Equivalents of Human κ Light Chains by Housden, Nicholas G., Harrison, Steven, Housden, Hazel R., Thomas, Karen-Anne, Beckingham, Jennifer A., Roberts, Siân E., Bottomley, Stephen P., Graille, Marc, Stura, Enrico, Gore, Michael G.

“…Detailed stopped-flow studies in combination with site-directed mutagenesis, isothermal titration calorimetry data and x-ray crystallographic knowledge have…”
Get full text

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion by Collinson, Morag N., Roberts, Siân E., Crolla, John A., Dennis, Nicholas R.

“…We reascertained a family in which first cousins were affected by Angelman syndrome and Prader–Willi syndrome. A paracentric inversion of 15q11‐q15 had…”
Get full text

Prader-Willi syndrome by Veltman, Marijcke W. M., Thompson, Russell J., Roberts, Sian E., Thomas, N. Simon, Whittington, Joyce, Bolton, Patrick F.

Get full text

A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region by Roberts, SE, Thomas, NS

Get full text

Immunoglobulin-binding domains: Protein L from Peptostreptococcus magnus by Housden, Nicholas G, Harrison, Steven, Housden, Hazel R, Thomas, Karen-Anne, Beckingham, Jennifer A, Roberts, Siân E, Bottomley, Stephen P, Graille, Marc, Stura, Enrico, Gore, Michael G

“…Protein L is a multidomain cell-wall protein isolated from Peptostreptococcus magnus. It belongs to a group of proteins that contain repeated domains that are…”
Get full text