Results 61 to 70 of about 1,175,166 (233)

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]

, 2020
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C, Baple, E, Baptista, J, Caswell, R, Cunningham, MH, Dean, J, Durigon, R, Durlacher-Betzer, K, Ellard, S, Fernandez Pelayo, U, Grochowski, CM, Gunning, AC, Harel, T, Holt, IJ, Homfray, T, Jones, AWE, Lahiri, N, Lupski, JR, Misra, VK, Muñoz Oreja, M, Parrish, A, Scurr, I, Spinazzola, A, Stals, KL, Strucinska, K, Taylor, RW, Tysoe, C, Wright, CF, Yoon, WH   +28 more
core   +3 more sources

The Clinical Genetics of Prostate Cancer [PDF]

Hereditary Cancer in Clinical Practice, 2004
Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades. One of the strongest epidemiological risk factors for prostate cancer is a positive family history.
Stephen M. Edwards, Rosalind A. Eeles, Sashi S. Kommu   +2 more
openaire   +4 more sources

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

A brief history of research on the genetics of alcohol and other drug use disorders. [PDF]

, 2014
ObjectiveThis article reviews developments in research on genetic influences on alcohol and other drug use and disorders over the past 7 decades.MethodThe author began with a review of the flow and content of articles published in the three iterations of
Schuckit, Marc A
core   +2 more sources

Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
doaj   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source

Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement

Frontiers in Genetics
PurposeClinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges.
Kerstin Hundal, Courtney L. Scherr, Hoda Fakhari, Sanjana Ramesh, Lisa Dellefave-Castillo, Deb Duquette, Sara Cherny, Elizabeth M. McNally, Gregory Webster, Laura J. Rasmussen-Torvik, Laura J. Rasmussen-Torvik   +10 more
doaj   +1 more source