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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 10 of 10 1 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Piard, Juliette,; Hawkes, Lara; Milh, Mathieu... In: ISSN: 1098-3600 ; Genetics in Medicine ; https://hal-amu.archives-ouvertes.fr/hal-01932796 ; Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩ ; https://www.nature.com/articles/s41436-018-0339-3 (2019) BASE Show details 2 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis C. - : BMJ Publishing Group Ltd, 2019 BASE Show details 3 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report Spurdle, Amanda B.; Greville-Heygate, Stephanie; Antoniou, Antonis. - 2019 BASE Show details 4 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis. - : BMJ, 2019. : J Med Genet, 2019 BASE Show details 5 Towards controlled terminology for reporting germline cancer susceptibility variants: An ENIGMA report Spurdle, Amanda B.; Greville-Heygate, Stephanie; Antoniou, Antonis C.. - : BMJ Group, 2019 BASE Show details 6 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Piard, Juliette; Hawkes, Lara; Milh, Mathieu. - : Nature Publishing Group US, 2018 BASE Show details 7 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain Laskowski, Roman A.; Tyagi, Nidhi; Johnson, Diana. - : Oxford University Press, 2016 BASE Show details 8 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Koolen, David A; Pfundt, Rolph; Linda, Katrin. - : Nature Publishing Group, 2016 BASE Show details 9 Further clinical and molecular delineation of the 15q24 microdeletion syndrome Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha; Slavotinek, Anne M; Cox, Victoria A; Hennekam, Raoul C; Firth, Helen V; Willatt, Lionel; Wheeler, Patricia; Morrow, Eric M; Cook, Joseph; Sullivan, Rachel; Oh, Albert; McDonald, Marie T; Zonana, Jonathan; Keller, Kory; Hannibal, Mark C; Ball, Susie; Kussmann, Jennifer; Gorski, Jerome; Zelewski, Susan; Banks, Valerie; Smith, Wendy; Smith, Rosemarie; Paull, Lindsay; Rosenbaum, Kenneth N; Amor, David J; Silva, Joao; Lamb, Allen; Eichler, Evan E. - : British Medical Journal Publishing Group, 2012 Abstract: Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. Aim To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fifteen patients with deletions in the 15q24 region was performed, nearly doubling the number of reported patients. Methods Breakpoints were characterised using a custom, high-density array comparative hybridisation platform, and detailed phenotype information was collected for each patient. Results Nine distinct deletions with different breakpoints ranging in size from 266 kb to 3.75 Mb were identified. The majority of breakpoints lie within segmental duplication (SD) blocks. Low sequence identity and large intervals of unique sequence between SD blocks likely contribute to the rarity of 15q24 deletions, which occur 8–10 times less frequently than 1q21 or 15q13 microdeletions in our series. Two small, atypical deletions were identified within the region that help delineate the critical region for the core phenotype in the 15q24 microdeletion syndrome. Conclusion The molecular characterisation of these patients suggests that the core cognitive features of the 15q24 microdeletion syndrome, including developmental delays and severe speech problems, are largely due to deletion of genes in a 1.1–Mb critical region. However, genes just distal to the critical region also play an important role in cognition and in the development of characteristic facial features associated with 15q24 deletions. Clearly, deletions in the 15q24 region are variable in size and extent. Knowledge of the breakpoints and size of deletion combined with the natural history and medical problems of our patients provide insights that will inform management guidelines. Based on common phenotypic features, all patients with 15q24 microdeletions should receive a thorough neurodevelopmental evaluation, physical, occupational and speech therapies, and regular audiologic and ophthalmologic screening. Keyword: Copy-number variations URL: https://doi.org/10.1136/jmedgenet-2011-100499 http://jmg.bmj.com/cgi/content/short/49/2/110 BASE Hide details 10 Further clinical and molecular delineation of the 15q24 microdeletion syndrome Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha. - : British Medical Journal Publishing Group, 2011 BASE Show details

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