Results 221 to 230 of about 1,217,808 (321)

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2019
Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El‐Gharbawy, Laurie M. Brown, Stephen G. Kahler, Surekha Pendyal, Katalin M. Ross, Laurie A. Tsilianidis, David A. Weinstein, Michael S. Watson   +14 more
openalex   +1 more source

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source

Correction: 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, Austin J, Elliott AM, GenCOUNSEL Study.   +10 more
europepmc   +1 more source

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD). [PDF]

Int J Mol Sci, 2021
Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R.   +9 more
europepmc   +1 more source

HID-Genetics: A Federated BIRN-enabled Data Management System for Clinical, Imaging, and Genome-Wide Association Studies

, 2011
Wei Dingying
openalex   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia. [PDF]

Transl Pediatr
Ueda M.
europepmc   +1 more source

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

Aten Primaria, 2022
Ejarque Doménech I, Marín Reina P, García-Miñaur Rica S, Chirivella González I, Martínez Martínez MT, García Rodríguez AM, Álvarez de Andrés S, Tellería Orriols JJ.   +7 more
europepmc   +1 more source

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): Brief review of genetics, clinical presentation, and management

P. Jayasri, Mary Stephen
openalex   +1 more source

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

Molecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck, Nele De Meulenaere, Thomas Vanpoucke, Joe Ibrahim, Dieter Peeters, Suresh Krishan Yogeswaran, Wen Wen, Paul Van Schil, Jeroen M. H. Hendriks, Jo Raskin, Jan van Meerbeeck, Guy Van Camp, Ken Op de Beeck   +12 more
wiley   +1 more source