Search Results - "QUARRELL, Oliver W. J"

The global prevalence of Huntington's disease: a systematic review and discussion by Baig, Sheharyar Sajjad, Strong, Mark, Quarrell, Oliver WJ

“…The ascertained prevalence of Huntington's disease (HD) increased significantly following the provision of diagnostic testing. A systematic review was…”
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The Impact of Juvenile Huntington's Disease on the Family: The Case of a Rare Childhood Condition by Brewer, Helen M., Eatough, Virginia, Smith, Jonathan A., Stanley, Cath A., Glendinning, Neil W., Quarrell, Oliver W.J.

“…There has been little research into the impact of Juvenile Huntington's Disease (JHD) on the family, and the issues facing this group are poorly understood…”
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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia by VASUDEVAN, Pradeep C, TWIGG, Stephen R. F, MULLIKEN, John B, COOK, Jackie A, QUARRELL, Oliver W. J, WILKIE, Andrew O. M

“…Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in…”
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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease? by Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peg, Reilmann, Ralf, Oosterloo, Mayke, Tabrizi, Sarah J., Furby, Hannah, Saft, Carsten, Roos, Raymund A. C., Squitieri, Ferdinando, Landwehrmeyer, G. Bernhard, Burgunder, Jean‐Marc

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The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature by Vasudevan, Pradeep C., Cohen, Marta C., Whitby, Elspeth H., Anumba, Dilly O. C., Quarrell, Oliver W. J.

“…We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex ‐MIM 258040 and a review of the literature. Case 1 was a…”
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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome by Stewart, Douglas R., Huang, Alina, Faravelli, Francesca, Anderlid, Britt-Marie, Medne, Livija, Ciprero, Karen, Kaur, Maninder, Rossi, Elena, Tenconi, Romano, Nordenskjöld, Magnus, Gripp, Karen W., Nicholson, Linda, Meschino, Wendy S., Capua, Esther, Quarrell, Oliver W.J., Flint, Jonathon, Irons, Mira, Giampietro, Philip F., Schowalter, David B., Zaleski, Christina A., Malacarne, Michela, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D.

“…Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal…”
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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study by Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J

“…Objective: To obtain penetrance data for Huntington’s disease when DNA results are in the range of 36–39 CAG repeats and assess the consistency of reporting…”
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Genetic professionals' reports of nondisclosure of genetic risk information within families by CLARKE, Angus, RICHARDS, Martin, QUARRELL, Oliver W. J, STEWART, Helen, KERZIN-STORRAR, Lauren, HALLIDAY, Jane, YOUNG, Mary Anne, SIMPSON, Sheila A, FEATHERSTONE, Katie, FORREST, Karen, LUCASSEN, Anneke, MORRISON, Patrick J

“…Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances…”
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Huntington's Disease by Quarrell, Oliver W. J

“…Huntington's disease affects 1 person in 10,000 but this figure is an underestimate because the immediate carer, spouse/partner and the close relatives at risk…”
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Prader–Willi and Klinefelter syndrome: a coincidence or not? by Vasudevan, Pradeep C., Quarrell, Oliver W.J.

“…Prader–Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems,…”
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Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature by Vasudevan, Pradeep C., Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L., Quarrell, Oliver W. J.

“…Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male…”
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Caring for a child with Juvenile Huntington’s Disease: helpful and unhelpful support by Brewer, Helen M., Smith, Jonathan A., Eatough, Virginia, Stanley, Cath A., Glendinning, Neil W., Quarrell, Oliver W.J.

“…There has been little research into the psychosocial impact of Juvenile Huntington’s Disease on the child and family. This study investigates the social and…”
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans by Newbury-Ecob, Ruth, Shears, Deborah J, Sutherland-Smith, Andrew J, Wilkie, Andrew O.M, Ørstavik, Karen H, Robertson, Stephen P, Horn, Denise, Quarrell, Oliver W.J, Gorlin, Robert J, Kenwrick, Susan J, Suri, Mohnish, Twigg, Stephen R.F, Biancalana, Valérie, Kim, Chong A, Schwartz, Charles E, Kendrick-Jones, John, Morava, Eva

“…Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein…”
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ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome by Picketts, David J., Higgs, Douglas R., Bachoo, Satvinder, Blake, Derek J., Quarrell, Oliver W. J., Gibbons, Richard J.

“…It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with thalassaemia (ATR-X…”
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Screening neonates for cystic fibrosis by Rylance, Kate, Quarrell, Oliver W J, Vasudevan, Pradeep C

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Glossary by Quarrell, Oliver W. J

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Facts and figures about Huntington’s disease by Quarrell, Oliver W. J

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Current research activities by Quarrell, Oliver W. J

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Changes in the brain by Quarrell, Oliver W. J

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Appendix by Quarrell, Oliver W. J

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