Results 181 to 190 of about 2,775,048 (407)
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023 Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker +17 more
wiley +1 more source
EPI Update, July 20, 2007 [PDF]
, 2007 Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public ...
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PARATYPHOID FEVER: A SEROLOGIC STUDY IN RELATION TO THE EPIDEMIOLOGY [PDF]
, 1913 Corinne Hunt
openalex +1 more source
Advanced Science, EarlyView.Prenatal dexamethasone exposure (PDE) can induce dysfunction in adrenal steroid synthesis in adult male offspring. This study demonstrate that the mechanism is associated with the upregulation of fetal adrenal cholesterol 27 hydroxylase (CYP27A1)promoter region histone 3 lysine 27 acetylation (H3K27ac) levels and expression mediated by PDE through the ...
Jiangang Cao +7 more
wiley +1 more source
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
EPI Update, April 3, 2009 [PDF]
, 2009 Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public ...
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Studies in the Epidemiology of Tinea Pedis: II. Dermatophytes on the Floors of Swimming-Baths [PDF]
, 1959 M. P. English, M.D. Gibson
openalex +1 more source
DAPK3 is Essential for DBP‐Induced Autophagy of Mouse Leydig Cells
Advanced Science, EarlyView.This study has confirmed that death‐associated protein kinase 3 (DAPK3) is essential for dibutyl phthalate (DBP)‐induced autophagy of mouse Leydig cells, and is regulated by both transcription factor specific protein 2 (Sp2) and parkin RBR E3 ubiquitin‐protein ligase (PRKN), and melatonin can alleviate DBP‐induced autophagy of the cells.
Si Yang +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023 Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer +16 more
wiley +1 more source
EPI Update, August 6, 2010 [PDF]
, 2010 Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public ...
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