Results 141 to 150 of about 616,961 (234)

Addressing Cross-Specialty Clinical Genetics Education Needs. [PDF]

J Contin Educ Health Prof
Lindquist KJ, Ryan MJ, Scheuner MT, Tamraz B, Flowers E, Harris-Wai J, Biswas S, Hyland K.   +7 more
europepmc   +1 more source

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands. [PDF]

J Community Genet, 2021
Vrijenhoek T, Tonisson N, Kääriäinen H, Leitsalu L, Rigter T.   +4 more
europepmc   +1 more source

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Clinical genetics in breast cancer. [PDF]

J Surg Oncol
Ntowe KW, Lee MS, Plichta JK.
europepmc   +1 more source

The 2019 US medical genetics workforce: a focus on clinical genetics. [PDF]

Genet Med, 2021
Jenkins BD, Fischer CG, Polito CA, Maiese DR, Keehn AS, Lyon M, Edick MJ, Taylor MRG, Andersson HC, Bodurtha JN, Blitzer MG, Muenke M, Watson MS.   +12 more
europepmc   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Medical care in clinical genetics: an experience of decentralization in southern Brazil. [PDF]

Einstein (Sao Paulo), 2021
Meneghini KFD, Karam SM, Madruga VFP, Ungaretti ASS, Pinguello EC, Severo R.   +5 more
europepmc   +1 more source

Dammarenediol II enhances etoposide‐induced apoptosis by targeting O‐GlcNAc transferase and Akt/GSK3β/mTOR signaling in liver cancer

Molecular Oncology, EarlyView.
Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee, Byung‐Cheol Han, Gi‐Bang Koo, Jihye Park, Mijin Kwon, Young Bin Park, Jae‐Mun Choi, Seung‐Ho Lee, Sangho Roh   +8 more
wiley   +1 more source

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice. [PDF]

Clin Genet
Innella G, Coccia E, Cristalli CP, Zacchi E, Calabrese S, Bacchi I, Palombo F, Taormina S, Evangelisti C, Lanzoni G, Carelli V, Diquigiovanni C, Ferrari S, Panza E, Rossi C, Vaisfeld A, Bonora E, Turchetti D.   +17 more
europepmc   +1 more source

A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service. [PDF]

Eur J Hum Genet, 2022
Firth C, Tripathi V, Kowalski Bellamy A, Somers N, Roos C, Tomlinson C.   +5 more
europepmc   +1 more source