Results 191 to 200 of about 1,278,547 (317)

Basic concepts of medical genetics. Formal genetics, part 4

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

European training requirements for the specialty of medical genetics. [PDF]

Eur J Hum Genet
Moog U, Berg J, Kerr S, Turnpenny PD, Verloes A, Working Group ETR for Medical Genetics, Zschocke J.   +6 more
europepmc   +1 more source

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

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

Erratum to “Genome‐wide association analysis of age at onset and psychotic symptoms in bipolar disorder”, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics”, April 1; 156(3):370–378 [PDF]

, 2011
Pamela B. Mahon, Mehdi Pirooznia, Fernando S. Goes, Fayaz Seifuddin, Jo Steele, Phil Hyoun Lee, Jie Huang, Marian L. Hamshere, J. Raymond DePaulo, John R. Kelsoe, Marcella Rietschel, Markus M. Nöthen, Sven Cichon, Hugh Gurling, Shaun Purcell, Jordan W. Smoller, Nick Craddock, Thomas G. Schulze, Francis J. McMahon, James B. Potash, Peter P. Zandi   +20 more
openalex   +1 more source

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

The European Certificate in Medical Genetics and Genomics (ECMGG). [PDF]

Eur J Hum Genet
Turnpenny PD, Pölsler L, Moog U, Tobias ES, Peron A, Boonen SE, Lynch B, Berg J.   +7 more
europepmc   +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

Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia

, 2021
Alya Qari, Moeen Al-Sayed, Zuhair N. Al‐Hassnan, Amin Kashmeery   +3 more
openalex   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities. [PDF]

J Community Genet
Rojas PLP, Mora LM, Rincón JS, Montoya IZ, León-Sanabria MC, Urueña-Serrano AM.   +5 more
europepmc   +1 more source