Results 171 to 180 of about 1,221,619 (355)

Basic concepts of medical genetics, formal genetics, Part 1

Egyptian Journal of Medical Human Genetics, 2014
Mohammad Saad Zaghloul Salem
doaj   +1 more source

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med, 2023
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR, ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net.   +14 more
europepmc   +1 more source

Progress in Medical Genetics, VIII. A. G. Steinberg and A. G. Bearn, Eds. Grune and Stratton, 111 Fifth Avenue, New York, N. Y. 10003, 1972, vii + 319 pp. $19.50 [PDF]

, 1973
Harold O. Goodman
openalex   +1 more source

Loss of proton‐sensing GPR4 reduces tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
G protein‐coupled receptor 4 (GPR4) is a pH‐sensing receptor activated by acidic pH. GPR4 expression is increased in patients with inflammatory bowel disease who are at high risk of developing colorectal cancer. In mouse models, loss of GPR4 attenuated tumor progression. This correlated with increased IL2 and natural killer cell activity.
Leonie Perren, Moana Busch, Pedro A. Ruiz, Ermanno Malagola, Valeria Baumeler, Federica Foti, Adelina Gross, Tobias Grütter, Hendrik Edel, Cordelia Schuler, Kristina Handler, Glenn De Lange, Isabelle C. Arnold, Cheryl de Vallière, Klaus Seuwen, Martin Hausmann, Gerhard Rogler   +16 more
wiley   +1 more source

Designing and founding of twins\' data bank in Islamic Republic of Iran

Payesh, 2009
Payesh2009; 8: 123-133Accepted for publication: 17 May 2007[EPub a head of print-20 Apr. 2009] Objective(s): Avesina Research Institute, consisting of 1. Reproductive Biotechnology 2. Monoclonal Antibody and 3.
Mohammad Reza Sadeghi, Omid Lotf Allahi Shabestari, Mohammad Mehdi Akhoundi1 Haleh Maleki1, Hamid Hamzeh Zadeh, Elaheh Sadat Sadeghi, Pegah Ebadi, Fatemeh Ebrahimi Abed, Hojjat Zeraati,   +8 more
doaj  

Telemedicine - chances and challenges for medical genetics in Germany. [PDF]

Med Genet, 2021
Tecklenburg J.
europepmc   +1 more source

TRPM8 levels determine tumor vulnerability to channel agonists

Molecular Oncology, EarlyView.
TRPM8 is a Ca2+ permissive channel. Regardless of the amount of its transcript, high levels of TRPM8 protein mark different tumors, including prostate, breast, colorectal, and lung carcinomas. Targeting TRPM8 with channel agonists stimulates inward calcium currents followed by emptying of cytosolic Ca2+ stores in cancer cells.
Alessandro Alaimo, Francesco Giuseppe Carbone, Kristi Buzo, Nicole Annesi, Sacha Genovesi, Annalisa Lorenzato, Karen Widmann, Michela Libergoli, Elisa Marmocchi, Giovanni Bertalot, Alberto Brolese, Mauro Giulio Papotti, Luca Molinaro, Orazio Caffo, Mattia Barbareschi, Alberto Bardelli, Alessandro Romanel, Sabrina Arena, Andrea Lunardi   +18 more
wiley   +1 more source

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira

Cadernos de Saúde Pública
A triagem populacional de heterozigotos assintomáticos para fins de orientação genética é um procedimento bastante controvertido, por envolver o risco de rotulação, discriminação, estigmatização, perda de auto-estima e invasão de privacidade. Assim sendo,
Roberto Benedito de Paiva e Silva, Antonio Sérgio Ramalho   +1 more
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Ocena moralna postępów w genetyce medycznej w świetle nauczania Jana Pawła II i Katechizmu Kościoła Katolickiego

Colloquia Theologica Ottoniana, 2013
This article attempts to assess the moral progress of biomedicine. At the beginning of the analysis the man is presented in the context of the auto teleological.
Rafał Orzech
doaj  

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med, 2023
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +14 more
europepmc   +1 more source