Results 231 to 240 of about 1,217,808 (321)

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services. [PDF]

Orphanet J Rare Dis
Wainstein T, Boelman C, Ens C, Gibson WT, Gregory-Evans K, Kolawole OU, Marshall SK, Selby K, GenCOUNSEL Study, Austin J, Elliott AM.   +10 more
europepmc   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source

Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service. [PDF]

J Med Genet
Roe A, Forman A, Lalloo F, McVeigh TP, Hanson H, Snape K.   +5 more
europepmc   +1 more source

Detection of circulating tumor DNA in colorectal cancer patients using a methylation‐specific droplet digital PCR multiplex

Molecular Oncology, EarlyView.
We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto, Louise Raunkilde, Jan Lindebjerg, Mads Malik Aagaard, Christina Therkildsen, Jakob Kleif, Lars Henrik Jensen, Torben Frøstrup Hansen, Rikke Fredslund Andersen   +8 more
wiley   +1 more source

Editorial: Application of next-generation sequencing in clinical settings

Frontiers in Genetics
Zhi Chai, Han Mei, Quan Li, Iram Maqsood, Jingxian Cai, Marilyn M. Li, Feng Xu, Xiaonan Zhao   +7 more
doaj   +1 more source

Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice. [PDF]

J Med Genet
Redman MG, Horton RH, Carley H, Lucassen A.   +3 more
europepmc   +1 more source

Queensland Consumers' Awareness and Understanding of Clinical Genetics Services. [PDF]

Front Genet, 2020
Wallingford CK, Cutler K, Istiko SN, Fowles LF, Lamb R, Bean J, Healy L, Hondow G, Pratt G, Vidgen ME, Waddell N, Evans E, Bunker D, McInerney-Leo AM.   +13 more
europepmc   +1 more source

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics [PDF]

, 2017
ACMG Board of Directors
openalex   +1 more source

Perspectives in educating molecular pathologists on liquid biopsy: Toward integrative, equitable, and decentralized precision oncology

Molecular Oncology, EarlyView.
Liquid biopsy enables minimally invasive, real‐time molecular profiling through analysis of circulating biomarkers in biological fluids. This Perspective highlights the importance of training pathologists through integrative educational programs, such as the European Masters in Molecular Pathology, to ensure effective and equitable implementation of ...
Marius Ilié, Umberto Malapelle, Catherine Alix‐Panabières, Claus Lindbjerg Andersen, Sandra Chlebowski, Vivien Lake, Caroline Lacoux, Virginie Lespinet‐Fabre, Olivier Bordone, Simon Heeke, Christophe Bontoux, Ellen Heitzer, Klaus Pantel, Paul Hofman   +13 more
wiley   +1 more source