Results 151 to 160 of about 147,982 (310)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Qatar Biobank Milestones in Building a Successful Biobank [PDF]

Biopreservation and Biobanking, 2019
Ayat, Salman, Ronny, Baber, Linda, Hannigan, Jens Karsten, Habermann, Marianne K, Henderson, Michaela Th, Mayrhofer, Nahla, Afifi   +6 more
openaire   +2 more sources

Vejle Diabetes Biobank – a resource for studies of the etiologies of diabetes and its comorbidities

, 2016
Eva Rabing Brix Petersen,1,2 Aneta Aleksandra Nielsen,1 Henry Christensen,1 Torben Hansen,3 Oluf Pedersen,3 Cramer Kjeldahl Christensen,4 Ivan Brandslund1,2 1Department of Clinical Immunology and Biochemistry, Lillebaelt Hospital, Vejle, 2Faculty of ...
Christensen CK, Hansen T, Pedersen O, Brandslund I, Petersen ERB, Nielsen AA, Christensen H   +6 more
core  

Refining OVCAR‐3 xenograft models of peritoneal carcinomatosis in nu/nu mice: Comparative intraperitoneal implantation strategies and the role of basement membrane matrix

Animal Models and Experimental Medicine, EarlyView.
A refined murine model of advanced ovarian cancer was established by comparing localized preperitoneal implantation and intraperitoneal injection of OVCAR‐3Luc cells. While localized implantation showed limited tumor persistence, intraperitoneal delivery with BME produced sustained diffuse dissemination confirmed by BLI and histology, providing a ...
M. Teresa Perelló‐Trias, Antonio Jose Serrano‐Muñoz, Juan J. Segura‐Sampedro, Adriana M. Quintero‐Duarte, Joana M. Ramis, Marta Monjo   +5 more
wiley   +1 more source

Standardization strategies for quality management systems in medical institution clinical biobanks

Zhongguo linchuang yanjiu
Clinical biobanks are the core strategic resources of precision and translational medicine research，and their quality management directly determines sample quality，research reliability and resource utilization efficiency.
CAO Risheng*，LU Zipeng
doaj   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

Annals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta, Davide Liborio Vetrano, Erika J. Laukka, Grégoria Kalpouzos, Javier Oltra, Debora Rizzuto, Marco Canevelli, Claudia Fredolini, Chengxuan Qiu, Bengt Winblad, Laura Fratiglioni, Giulia Grande   +11 more
wiley   +1 more source

Body mass index and type 2 diabetes liability in osteomyelitis and cellulitis: A cross-biobank Mendelian randomization study. [PDF]

Medicine (Baltimore)
Liu F, Luo K, Liu H.
europepmc   +1 more source