Results 271 to 280 of about 10,250,216 (364)

Molecular genetics of common variable immunodeficiency

, 2017
Bogaert, Delfien, De Baere, Elfride, Dullaers, Melissa, Haerynck, Filomeen   +3 more
core   +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

Wide disparity of clinical genetics services and EU rare disease research funding across Europe

Journal of Community Genetics, 2015
S. Lynch, I. Borg
semanticscholar   +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

Clinical variants of acrodermatitis enteropathica and its co-relation with genetics

, 2016
Sarabjit Kaur, Ankita Sangwan, Priyadarshini Sahu, Surabhi Dayal, VijayKumar Jain   +4 more
openalex   +1 more source

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Circulation Research, 2017
A. Marian, E. Braunwald
semanticscholar   +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

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. [PDF]

Int J Mol Sci
Nagy P, Papp J, Grolmusz VK, Bozsik A, Pócza T, Oláh E, Patócs A, Butz H.   +7 more
europepmc   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Clinical Genetics

Pathology, 1974
openaire   +3 more sources