Results 161 to 170 of about 79,064 (227)

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source

Precision medicine in cancer: A comprehensive review of advanced cancer diagnosis technologies and personalized treatment strategies

Precision Medical Sciences, EarlyView.
The translational pipeline of precision medicine in clinical oncology. Schematic overview of the individualized cancer care workflow. (1) Input: Patient samples undergo multi‐omic profiling via NGS, single‐cell diagnostics, spatial maps, and epigenetic sequencing.
Asif Jan, Bushra Waheed, Rani Akbar, Daniel Dubwa   +3 more
wiley   +1 more source

Editorial: "Next-Generation Sequencing in Rare Genetic Diseases". [PDF]

Genes (Basel)
Errichiello E, Dimartino P.
europepmc   +1 more source

Biomarkers Predictive of Immunotherapy Efficacy in Head and Neck Squamous Cell Carcinoma: Current Insights and Future Perspectives

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT With the approval of immunotherapies by regulatory bodies, head and neck squamous cell carcinoma (HNSCC) treatment has been revolutionized, and anti‐programmed cell death‐1 (anti‐PD‐1) agents are now the standard for platinum‐resistant recurrent/metastatic HNSCC.
Xiao‐Tong Yan, Zhao‐Hong An, Chang‐Ming An   +2 more
wiley   +1 more source

DDX3Y loss-of-function variant in AZFa-like non-obstructive azoospermia highlights gaps in current Y-chromosome microdeletion testing. [PDF]

Reprod Fertil
Abou F, Waldenberg N, Kravat S, Gershoni M, Kleiman SE, Steiner N, Zeadna A, Bar G, Barel O, Dekalo S, Parvari R, Barak S.   +11 more
europepmc   +1 more source

MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection

Annals of Human Genetics, EarlyView.
ABSTRACT Aims Thoracic aortic aneurysms and dissections are major causes of sudden cardiovascular death. We aimed to evaluate the clinical significance of the MYLK c.4079G>A, p.(Gly1360Asp) variant in Finnish families with heritable thoracic aortic disease (HTAD) and to assess evidence for a potential founder effect.
Minja Virtanen, Sini Keskinen, Rikhard Björn, Minna Paavola, Pia Pohjola, Marja Hietala, Maria K. Haanpää, Markus Malmberg, Elisa Rahikkala   +8 more
wiley   +1 more source

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum. [PDF]

Ophthalmol Sci
Jaju S, Sivagnanam J, Menon P, Nandini G R E, Shanmugam P, Jose A, Morris R, Ramasamy K, Venkatapathy N, Pandian J, Narendran S.   +10 more
europepmc   +1 more source

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source