Zobrazeno 1 - 10
of 2 075
pro vyhledávání: '"Genetic syndromes"'
Autor:
Mercedes Serrano, Maria Elias, Marta Llorens, Mercè Bolasell, Helena Vall-Roqué, Laia Villalta
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Children with genetic conditions are at increased risk for mental health and neurodevelopmental problems, often accompanied by significant parental distress. Genetic and family factors can impact children and parents’ mental hea
Externí odkaz:
https://doaj.org/article/2d4e46f09ece48eda450aa2d1a4b7ae5
Autor:
Jacqueline I. Fezza, Srishti Rau, Lauren Clary, Oretha Nimene Johnson, Fiona Fimmel, John Barber, Roopa Kanakatti Shankar
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionTurner syndrome (TS) is associated with significant neuropsychological challenges, and screening is recommended at key transition stages. Our goal was to describe the institutional experience of formal neuropsychological assessments in TS
Externí odkaz:
https://doaj.org/article/3bfeb7c234fb4f879155412745b3b85c
Autor:
Rory O’Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller, Andrew Surtees, Mary Heald, Emma Clarkson, Aamina Khan, Christopher Oliver, Andrew P. Bagshaw, Caroline Richards
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire tech
Externí odkaz:
https://doaj.org/article/f0d73da6a8414278be775542b1506da8
Autor:
Karrie F. Downing, Angela E. Lin, Wendy N. Nembhard, Charles E. Rose, Jennifer G. Andrews, Anthony Goudie, Scott E. Klewer, Matthew E. Oster, Sherry L. Farr
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 15 (2024)
Externí odkaz:
https://doaj.org/article/5fa3232e9fa14b3b841245ccf7ea5517
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-37 (2023)
Abstract Background Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive t
Externí odkaz:
https://doaj.org/article/25c904af5e6d42168d084d9db762cc6f
Publikováno v:
Children, Vol 11, Iss 7, p 792 (2024)
Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally
Externí odkaz:
https://doaj.org/article/4e98ce03c5ad4f7bb6f7051226df3380
Autor:
Mohammad Sazzad Hasan, Elie Ganni, Aihua Liu, Liming Guo, Andrew S. Mackie, Jay S. Kaufman, Ariane J. Marelli
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 1 (2024)
Background Individuals with genetic syndromes can manifest both congenital heart disease (CHD) and cancer attributable to possible common underlying pathways. To date, reliable risk estimates of hematopoietic cancer (HC) among children with CHD based
Externí odkaz:
https://doaj.org/article/437a1ef7ccda4b4ab8a448529bb11390
Autor:
Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel Chawner, Jan Stochl, Tamsin Ford, F. Lucy Raymond, Valentina Escott-Price, Marianne B. M. van den Bree
Publikováno v:
Molecular Autism, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Background Genomic conditions can be associated with developmental delay, intellectual disability, autism spectrum disorder, and physical and mental health symptoms. They are individually rare and highly variable in presentation, which limit
Externí odkaz:
https://doaj.org/article/036c1f415aca40a8b027e201c1374247
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Goltz–Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple orga
Externí odkaz:
https://doaj.org/article/eca19854de8d4a9cabf8894d1c39ed7b
Autor:
Florentina Claudia Militaru, Valentin Militaru, Nicolae Crisan, Ioana Corina Bocsan, Anghel Adrian Udrea, Andreea Catana, Eniko Kutasi, Mariela Sanda Militaru
Publikováno v:
Biomolecules & Biomedicine, Vol 23, Iss 5 (2023)
Prostate cancer is one of the most significant causes of morbidity and mortality in male patients. The incidence increases with age, and it is higher among African Americans. The occurrence of prostate cancer is associated with many risk factors, inc
Externí odkaz:
https://doaj.org/article/fb2b80f4939946869a93fb7afa208c83