Results 251 to 260 of about 4,953,128 (334)

Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase [PDF]

, 1993
J. C K Barber
openalex   +1 more source

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2018
D. Stewart, B. Korf, K. Nathanson, D. Stevenson, K. Yohay   +4 more
semanticscholar   +1 more source

Predictors of response and rational combinations for the novel MCL‐1 inhibitor MIK665 in acute myeloid leukemia

Molecular Oncology, EarlyView.
This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...
Joseph Saad, Rhiannon Newman, Elmira Khabusheva, Sofia Aakko, Eric Durand, Mahesh Tambe, Heikki Kuusanmäki, Alun Parsons, Juho J. Miettinen, Komal Kumar Javarappa, Ezgi June Olgac, Nemo Ikonen, Mika Kontro, Kimmo Porkka, Heiko Maacke, Janghee Woo, Ensar Halilovic, Caroline A. Heckman   +17 more
wiley   +1 more source

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Selvam P, Mares Beltrán CF, Sen K, Morales Corado A, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Diversity, inclusion and equity in medical genetics: The time is now. [PDF]

Am J Med Genet A, 2020
Quintero-Rivera F, Hisama FM.
europepmc   +1 more source

Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel [PDF]

, 1992
Nalin Thakker
openalex   +1 more source

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2018
K. David, R. Best, Leslie Manace Brenman, L. Bush, Joshua L. Deignan, D. Flannery, J. Hoffman, I. Holm, David T. Miller, James O’Leary, R. Pyeritz, on behalf of the Acmg Laboratory Quality Assurance Committee   +11 more
semanticscholar   +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

Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population [PDF]

, 1992
A. Norman
openalex   +1 more source

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
Acmg Board of Directors
semanticscholar   +1 more source