„Mutation Testing“

Suchergebnisse

283 Treffer

• Glucometer‐based Ultra‐sensitive BRAF V600E Mutation Detection Facilitated by Magnetic Nanochains and a Self‐made Point‐of‐care (POC) Device
  Wang, Chang ; Yu, Jingyuan ; Qi, Lijuan ; Yu, Jiaxue ; Yang, Meiting ; Du, Yan
• Muta-Pro: Towards the definition of a mutation testing process
  Vincenzi, A. M. R. ; Simão, A. S. ; Delamaro, M. E. ; Maldonado, J. C.
• Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing
  Cummings, Shelly ; Roman, Susana San ; Saam, Jennifer ; Bernhisel, Ryan ; Brown, Krystal ; Lancaster, Johnathan M. ; Usha, Lydia
• Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
  Benoit, Geneviève ; Machuca, Eduardo ; Antignac, Corinne
• A Multi-Case Report of the Pathways To and Through Genetic Testing and Cancer Risk Management for BRCA Mutation-Positive Women Aged 18–25
  Hoskins, Lindsey M. ; Werner-Lin, Allison
• The importance of EGFR mutation testing in squamous cell carcinoma or non-small cell carcinoma favor squamous cell carcinoma diagnosed from small lung biopsies
  Ho, Hsiang-Ling ; Kao, Hua-Lin ; Yeh, Yi-Chen ; Chou, Teh-Ying
• Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors
  Finucane, Brenda ; Abrams, Liane ; Cronister, Amy ; Archibald, Alison D. ; Bennett, Robin L. ; McConkie-Rosell, Allyn
• Preimplantation diagnosis of the β1 integrin knockout mutation as a model for aneuploid gene testing
  Kim, H.-S ; Klimanskaya, I.V ; Damsky, C.K ; Pedersen, R.A ; Lebo, R.V
• Results of an Intervention for Individuals and Families with BRCA Mutations: A Model for Providing Medical Updates and Psychosocial Support Following Genetic Testing
  McKinnon, Wendy ; Naud, Shelly ; Ashikaga, Taka ; Colletti, Rose ; Wood, Marie
• Testing for BRCA1/2 mutations cost effective in high-risk women
• Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey
  Anido, Aimee ; Carlson, Lisa M. ; Sherman, Stephanie L.
• TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
  Bakhuizen, J. J. ; Hogervorst, F. B. ; Velthuizen, M. E. ; Ruijs, M. W. ; Engelen, K. van ; Os, T. A. van ; Gille, J. J. ; Collée, M. ; Ouweland, A. M. van den ; Asperen, C. J. van ; Kets, C. M. ; Mensenkamp, A. R. ; Leter, E. M. ; Blok, M. J. ; Jong, M. M. de ; Ausems, M. G.
• Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations
  Rolf, B. ; Keil, W. ; Brinkmann, B. ; Roewer, L. ; Fimmers, R.
• Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations
  Chen, Dongjia ; Shen, Xiaoting ; Xu, Yan ; Cai, Bing ; Ding, Chenhui ; Zhong, Yiping ; Xu, Yanwen ; Zhou, Canquan
• Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing
  Lertwilaiwittaya, Pongtawat ; Roothumnong, Ekkapong ; Nakthong, Panee ; Dungort, Peerawat ; Meesamarnpong, Chutima ; Tansa-Nga, Warisara ; Pongsuktavorn, Khontawan ; Wiboonthanasarn, Supakit ; Tititumjariya, Warunya ; Thongnoppakhun, Wanna ; Chanprasert, Sirisak ; Limwongse, Chanin ; Pithukpakorn, Manop
• Diagnostic and prognostic value of a 7-panel mutation testing in thyroid nodules with indeterminate cytology: the SWEETMAC study
  Bardet, Stéphane ; Goardon, Nicolas ; Lequesne, Justine ; Vaur, Dominique ; Ciappuccini, Renaud ; Leconte, Alexandra ; Monpeyssen, Hervé ; Saguet-Rysanek, Virginie ; Clarisse, Bénédicte ; Lasne-Cardon, Audrey ; Ménégaux, Fabrice ; Leenhardt, Laurence ; Buffet, Camille
• Practical consensus recommendations on management of triple-negative metastatic breast cancer
  Rangarao, R. ; Smruti, B. K. ; Singh, K. ; Gupta, A. ; Batra, S. ; Choudhary, R. K. ; Sahani, S. ; Kabra, Vedant ; Parikh, Purvish M. ; Aggarwal, S.
• Practical consensus recommendation on when to do BRCA testing
  Parikh, Purvish M. ; Wadhwa, J. ; Minhas, S. ; Gupta, A. ; Mittal, S. ; Ranjan, S. ; Mehta, P. ; Singh, R. ; Kataria, S. P. ; Salim, S. ; Ahmed, M. ; Aggarwal, S.
• Evaluation of alternative design choices for evolutionary mutation testing by means of automated configuration
  Delgado-Pérez, Pedro ; Chicano, Francisco
• Comprehensive genetic testing combined with citizen science reveals a recently characterized ancient MC1R mutation associated with partial recessive red phenotypes in dog
  Anderson, Heidi ; Honkanen, Leena ; Ruotanen, Päivi ; Mathlin, Julia ; Donner, Jonas