Results 181 to 190 of about 320,413 (381)
Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein +16 morewiley +1 more sourceInformation can kill [PDF]
, 2004 Recent advances in understanding links between genes
and the susceptibility to particular diseases have considerably increased
the scope for predictive diagnosis. Methods.Huck, S., Konrad, K.A.core +1 more sourceDepression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts +8 morewiley +1 more sourceEuropean guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
BJS (British Journal of Surgery), EarlyView., 2020 Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) +18 morewiley +1 more sourceShared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
European Respiratory Journal, 2017 P. Juge, R. Borie, C. Kannengiesser, S. Gazal, P. Revy, L. Wémeau-Stervinou, M. Debray, S. Ottaviani, S. Marchand-Adam, N. Nathan, G. Thabut, C. Richez, H. Nunes, I. Callebaut, A. Justet, N. Leulliot, A. Bonnefond, D. Salgado, P. Richette, J. Desvignes, H. Lioté, P. Froguel, Y. Allanore, O. Sand, C. Dromer, R. Flipo, A. Clément, C. Béroud, J. Sibilia, B. Coustet, V. Cottin, M. Boissier, B. Wallaert, T. Schaeverbeke, Florence Dastot le Moal, A. Frazier, C. Ménard, M. Soubrier, N. Saidenberg, D. Valeyre, S. Amselem, C. Boileau, B. Crestani, P. Dieudé +43 moresemanticscholar +1 more sourceGenome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm +21 morewiley +1 more source
