Results 191 to 200 of about 409,329 (299)

Effects of endogenous sex hormones on lung function and symptom control in adolescents with asthma [PDF]

, 2018
Bacharier, Leonard B, Castro, Mario, Coverstone, Andrea M, et al,   +3 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Sex Hormones and Metabolic Dysfunction-Associated Steatotic Liver Disease. [PDF]

Int J Mol Sci
Weiskirchen R, Lonardo A.
europepmc   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Sex Hormones and Heart Failure Risk. [PDF]

JACC Adv
Ebong IA, Appiah D, Mauricio R, Narang N, Honigberg MC, Ilonze OJ, Aggarwal NR, Zanni MV, Mohammed SF, Cho L, Michos ED, American College of Cardiology Cardiovascular Disease in Women Committee.   +11 more
europepmc   +1 more source

The contribution of the androgen receptor (AR) in human spatial learning and memory : a study in women with complete androgen insensitivity syndrome (CAIS) [PDF]

, 2016
Cools, Martine, Müller, Sven, T'Sjoen, Guy, Van Branteghem, A, Verwilst, Tina   +4 more
core  

Thyroxine binding globulin (TBG) levels in obese patients diminished by total fasting [PDF]

, 1977
Bauer, M., Emmert, D., Hofmann, G. G., Horn, K., Pickardt, C. R., Scriba, Peter Christian   +5 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source