Results 61 to 70 of about 141,580 (256)

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav, Sophie E. Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A. Sandaradura, Ingrid E. Scheffer, Zornitza Stark, Katherine B. Howell   +17 more
wiley   +1 more source

Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers

BMC Medical Genomics, 2022
Background DNA methylation (DNAm) age metrics have been widely accepted as an epigenetic biomarker for biological aging and disease. The purpose of this study is to assess whether or not individuals carrying Lynch Syndrome-associated mutations are ...
Marta Cuadros, Carlos Cano, Sonia Garcia-Rodriguez, José Luis Martín, Antonio Poyatos-Andujar, Francisco Ruiz-Cabello, Susana Pedrinaci, Gema Durán, Manuel Benavides, María Dolores Bautista-Ojeda, Teresa Pereda, Maria Soledad Benitez-Cantos, Pedro Medina, Armando Blanco, Antonio Gonzalez, Paul Lizardi   +15 more
doaj   +1 more source

Founder mutation in Lynch syndrome [PDF]

, 2016
El síndrome de Lynch es la más frecuente de las neoplasias colorrectales hereditarias. Se origina por mutaciones germinales deletéreas familia-específicas en los genes que codifican proteínas de reparación del ADN: MLH1 (homólogo humano de mutL), MSH2 y ...
Cajal, Andrea, Ferro, Fabiana Alejandra, Kalfayan, Pablo G., Piñero, Tamara Alejandra, Santino, Juan Pablo, Solano, Angela Rosario, Vaccaro, Carlos A., Verzura, Alicia   +7 more
core  

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

Parents despite support networks? An intersectional analysis of disabled parenthood

Feminist Anthropology, EarlyView.
Abstract This article uses an intersectional perspective that considers patriarchal and ableist mandates to understand how family and professional support networks impact the reproductive trajectories of disabled people. The study analyzes 16 semi‐structured interviews with disabled people and 1 with a non‐disabled support worker.
Laura Sanmiquel‐Molinero, Joan Pujol‐Tarrés, Marisela Montenegro   +2 more
wiley   +1 more source

Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is due to error in DNA mismatch repair (MMR) genes caused by germline pathogenic variants. For some families highly suspicious of Lynch syndrome, the diagnosis may not be confirmed.
Wenche Sjursen, Eva Kathrine Svaasand, Bodil Gilde, Anuradha Ravi, Katinka Madtzog Korseth, Ashish Kumar Singh, Jostein Johansen, Olaug Kristin Rødningen, Sofie Geck Sevatdal, Siv Anita Hegre, Maren Fridtjofsen Olsen, Kristine Misund   +11 more
doaj   +1 more source

SNP association study in PMS2-associated Lynch syndrome [PDF]

, 2017
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS).
Elsayed, F.A. (Fadwa A.), Garcia, E.B.G., Gille, H.J.P. (Hans), Hest, L.P. (Liselotte) van, Kolk, L.E. (Lizet) van der, Letteboer, T.G.W. (Tom), Mensenkamp, A.R. (Arjen R.), Nielsen, M. (Maartje), Olderode-Berends, M. (Maran), Os, T.A.M. (Theo) van, Pagan, L. (Lisa), Redeker, B. (Bert), Spruijt, L. (Liesbeth), Steyerberg, E.W. (Ewout), Suerink, M. (Manon), Ten Broeke, S.W. (Sanne W.), Tops, C. (Carli), Vos, Y.J. (Yvonne), Wagner, A. (Anja), Wezel, T. (Tom) van, Wijnen, J.T. (Juul)   +20 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Unusual presentation of Lynch Syndrome

Hereditary Cancer in Clinical Practice, 2009
Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR).
Yu Veronica PCC, Novelli Marco, Payne Stewart J, Fisher Sam, Barnetson Rebecca A, Frayling Ian M, Barrett Ann, Goudie David, Ardern-Jones Audrey, Eeles Ros, Shanley Susan   +10 more
doaj   +1 more source

Molecular evolution of HoxA13 and the multiple origins of limbless morphologies in amphibians and reptiles [PDF]

, 2015
Developmental processes and their results, morphological characters, are inherited through transmission of genes regulating development. While there is ample evidence that cis-regulatory elements tend to be modular, with sequence segments dedicated to ...
Bamshad M, Bell MA, Brakefield PM, Brakefield PM, Brayer KJ, Cohn M, Crow KD, Delport W, Di-Poï N, Dollé P, Dollé P, Fromental-Ramain C, Galant R, Gans C, Goodman FR, Gower DJ, Graur D, Günter P. Wagner, Hall BK, Head JJ, Hsieh-Li HM, Innis JW, Knosp WM, Knosp WM, Kobayashi A, Kohlsdorf T, Koryu Kin, Krumlauf R, Lande R, Lynch VJ, Lynch VJ, Mansfield JH, Mariana B. Grizante, Mariana F. Nery, Marina E. Singarete, Mortlock DP, Mortlock DP, Mortlock DP, Murrell B, Parra-Olea G, Pavlicev M, Pavlicev M, Pearson JC, Perez WD, Pyron AR, Pyron RA, Raff RA, Reno PL, Ronshaugen M, San Mauro D, Sarah R. Milograna, Shou S, Sivanantharajah L, Stadler HS, Stern DL, Taylor HS, Thompson JD, Tiana Kohlsdorf, Tschopp P, Warot X, Wiens JJ, Woltering JM, Woltering JM, Wray GA, Yang Z, Yang Z, Zhang J   +66 more
core   +4 more sources