Results 21 to 30 of about 7,785,903 (293)

Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

Molecular Genetics & Genomic Medicine, 2020
Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented
Anna Byrjalsen, Ulrik K. Stoltze, Anders Castor, Ayo Wahlberg   +3 more
doaj   +1 more source

Diagnostically relevant facial gestalt information from ordinary photos

eLife, 2014
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker   +6 more
doaj   +1 more source

Genetics in Clinical Trials [PDF]

, 2009
Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F, Meschia, Katrina, Gwinn
openaire   +2 more sources

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy [PDF]

, 2018
BACKGROUND: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES: This study investigated the correlations
van Spaendonck-Zwarts, KY, Dalinghaus, M, Hofstra, RMW, Backx, A, van Melle, JP, IJpma, Arne, Teske, AJ, Sarvaas, GJD, van den Berg, MP, Caliskan, Kadir; id_orcid, Caliskan, Kadir, Kardys, Isabella, Baas, AF, Asselbergs, FW, du Marchie Sarvaas, GJ, Breur, JMPJ, Linschoten, MPM, Breur, J, Boekholdt, SM, Dooijes, D, Waning, Jaap, Hofstra, Robert, Backx, APCM, Spaendonck-Zwarts, KY, Majoor-Krakauer, D, Caliskan, K, IJpma, AS, Jongbloed, JDH, Hoedemaekers, YM, Dalinghaus, M., Kardys, I, van Slegtenhorst, Marjon, van Slegtenhorst, MA, Deprez, RHL, Majoor - Krakauer, Danielle, Verlooij, LA, van Waning, JI   +36 more
core   +1 more source

Trans-ethnic variation in germline variants of patients with renal cell carcinoma

Cell Reports, 2021
Summary: Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients of European ancestry. We examine the frequency of germline pathogenic and likely pathogenic (P/LP) variants in 1,829 patients with RCC from ...
Sarah Abou Alaiwi, Amin H. Nassar, Elio Adib, Stefan M. Groha, Elie W. Akl, Bradley A. McGregor, Edward D. Esplin, Shan Yang, Kathryn Hatchell, Vincent Fusaro, Sarah Nielsen, David J. Kwiatkowski, Guru P. Sonpavde, Mark Pomerantz, Judy E. Garber, Matthew L. Freedman, Huma Q. Rana, Alexander Gusev, Toni K. Choueiri   +18 more
doaj   +1 more source

Association of pulse wave velocity with single nucleotide polymorphisms related to parathyroid hormone

Blood Pressure, 2018
Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng, Qian-Hui Guo, Dong-Yan Zhang, Ying Wang, Qi-Fang Huang, Chang-Sheng Sheng, Ji-Guang Wang, Jan A. Staessen, Yan Li   +8 more
doaj   +1 more source

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022

, 2023
The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries.
Avram, Elena, da Silva, Ana Raquel Gouveia Freitas, Tonini, Francesca, Committee, European Society of Human Genetics-Young, Săbău, Ileana Delia, Kalantari, Silvia, Cerqueira, Juliana Xavier de Miranda, de Miranda Cerqueira, Juliana Xavier, Dore, Rhys, Ding, Can, Noor, Nuru, Mroczek, Magdalena, -, -, Johari, Mridul, Sabau, Ileana-Delia, Barbosa-Matos, Rita   +15 more
core   +1 more source

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

Medicina, 2023
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis   +16 more
doaj   +1 more source

Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

Diagnostics, 2020
In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear.
Deborah A. Sival, Martinica Garofalo, Rick Brandsma, Tom A. Bokkers, Marloes van den Berg, Tom J. de Koning, Marina A. J. Tijssen, Dineke S. Verbeek   +7 more
doaj   +1 more source

Molecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome

Endocrine Connections
Objective: Androgen insensitivity syndrome (AIS) due to androgen receptor (AR) mutations creates a spectrum of clinical presentations based on residual AR function with the mildest impairment creating mild AIS (MAIS) whose undefined molecular mechanism ...
Ravind Pandher, Ruby Chang, Yiqun Chang, David E Hibbs, Jonathan J Du, Kristine McGrath, Alison Heather, Veena Jayadev, David J Handelsman   +8 more
doaj   +1 more source