Results 41 to 50 of about 10,250,216 (364)

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +4 more sources

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

European Journal of Human Genetics, 2018
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting
D. Carrieri, H. Howard, C. Benjamin, A. Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F. Halbersma-Konings, Leigh Jackson, H. Kayserili, S. Kelly, A. Lucassen, Álvaro Mendes, E. Rial‐Sebbag, V. Stefánsdóttir, P. Turnpenny, C. V. van El, I. V. van Langen, M. Cornel, F. Forzano   +19 more
semanticscholar   +1 more source

External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]

, 1998
The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas, Deufel, Thomas, Geilenkeuser, Wolf-Jochen, Neumaier, Michael, Roscher, Adelbert, Röhle, Gerhard, Wagener, Christoph   +6 more
core   +1 more source

Genetics of Obesity in Humans: A Clinical Review

International Journal of Molecular Sciences, 2022
Obesity is a complex multifactorial disorder with genetic and environmental factors. There is an increase in the worldwide prevalence of obesity in both developed and developing countries.
R. Mahmoud, V. Kimonis, M. Butler
semanticscholar   +1 more source

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

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

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +1 more source

An Introduction to Recursive Partitioning: Rationale, Application and Characteristics of Classification and Regression Trees, Bagging and Random Forests [PDF]

, 2009
Recursive partitioning methods have become popular and widely used tools for nonparametric regression and classification in many scientific fields. Especially random forests, that can deal with large numbers of predictor variables even in the presence of
Malley, James, Strobl, Carolin, Tutz, Gerhard   +2 more
core   +1 more source

Clinical Genetics of Polydactyly: An Updated Review

Frontiers in Genetics, 2018
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Umair, F. Ahmad, M. Bilal, W. Ahmad, M. Alfadhel   +4 more
semanticscholar   +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