Results 81 to 90 of about 21,998 (244)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Factors influencing premature ovarian insufficiency: a systematic review and meta-analysis

Journal of Obstetrics and Gynaecology
Background Premature ovarian insufficiency (POI) has multiple contributing factors. This study aims to systematically evaluate these factors and their mechanisms, identify high-risk groups, support early intervention, and provide a basis for future ...
Shuling Lin, Shanyan Chen, Qin Zhang
doaj   +1 more source

Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life [PDF]

, 1987
To determine the origin of estrogens in infant blood, we measured estrone (E1) and estradiol (E2) in the gonads of 50 girls and 64 boys who died suddenly between birth and 2 yr of age as well as in the adrenals of 18 of these infant girls and 16 of the ...
Bidlingmaier, F., Dorr, H. G., Eisenmenger, Wolfgang, Knorr, D., Strom, T. M.   +4 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Primary ovarian insufficiency: an update

International Journal of Women's Health, 2014
Leticia Cox, James H LiuUH Case Medical Center, MacDonald Women's Hospital, Department of Obstetrics and Gynecology, Case Western Reserve University School of Medicine, Department of Reproductive Biology, Cleveland, OH, USAAbstract: Primary ovarian ...
Cox L, Liu JH
doaj  

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure. [PDF]

, 2013
BACKGROUND: One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years.
Beke Artúr, Csomor Judit, Fekete György, Haltrich Irén, Karcagi Veronika, Matolcsy András, Pikó Henriett, Rigó János   +7 more
core   +2 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Evaluation of Neutrophil–Lymphocyte Ratio, Platelet–Lymphocyte Ratio and Red Blood Cell Distribution Width–Platelet Ratio for Diagnosis of Premature Ovarian Insufficiency

Journal of Family and Reproductive Health, 2017
Objective: To evaluate whether systemic inflammatory markers (neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR) and red blood cell distribution width (RDW) to platelet ratio (RPR)) can be used as reliable markers for the diagnosis ...
Gülşah Ilhan, Fatma Ferda Verit Atmaca, Esra Altan, Ali Galip Zebitay, Hamdullah Sozen, Hurkan Akyol, Meryem Kurek Eken   +6 more
doaj  

Premature Ovarian Insufficiency - an update on recent advances in understanding and management [version 1; referees: 3 approved]

F1000Research, 2017
Premature ovarian insufficiency is a complex and relatively poorly understood entity with a myriad of etiologies and multisystem sequelae that stem from premature deprivation of ovarian sex hormones.
Saioa Torrealday, Pinar Kodaman, Lubna Pal   +2 more
doaj   +1 more source