Results 91 to 100 of about 366,783 (273)

Microscopic testicular sperm extraction in 46, XY differences in sex development caused by 5-alpha reductase type 2 deficiency [PDF]

Archives of Endocrinology and Metabolism
SUMMARY The 46, XY differences in sex development (DSD) caused by 5-alpha reductase type 2 (5ARD2) often presents with bilateral undescended testicles, otherwise normal internal reproductive structures, prostate hypoplasia and undervirilized male ...
Joao Paulo Greco Cardoso, Berenice Bilharinho Mendonça, William Carlos Nahas, Marcello Antonio Signorelli Cocuzza   +3 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Psychosocial well-being in Dutch adults with disorders of sex development

, 2016
OBJECTIVE: Atypical sex development is associated with psychosocial vulnerability. We investigated psychosocial well-being in individuals with disorders of sex development (DSD) and hypothesized that psychosocial well-being was related to degree of ...
van Kuyk, M, de Neve-Enthoven, Nita G.M., Cohen-Kettenis, Peggy T, Enthoven, Nita; id_orcid, Enthoven, Nita, Drop, Stenvert L S, de Neve-Enthoven, Nita GM, Dessens, Arianne B., Cohen-Kettenis, PT, Callens, N, Dessens, Arianne B, Callens, Nina, Drop, Stenvert LS, de Neve-Enthoven, Nita G M, van Kuppenveld, JH, Cohen-Kettenis, Peggy T., Drop, Sten, Van Kuyk, Maaike, Drop, Stenvert L.S., Van Kuppenveld, Jet H, van Kuppenveld, Jet H., Dessens, Arianne   +21 more
core   +1 more source

A Brainstem Radiomics Framework to Distinguish Progressive Supranuclear Palsy from Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Differentiating progressive supranuclear palsy (PSP) from Parkinson's disease (PD) can be clinically challenging. In the neuroimaging field, radiomics has emerged as a promising approach to capture subtle microstructural and textural image alterations, improving differential diagnoses.
Chiara Camastra, Jolanda Buonocore, Antonio Augimeri, Camilla Calomino, Maria Giovanna Bianco, Alessia Sarica, Pier Paolo Arcuri, Aldo Quattrone, Andrea Quattrone   +8 more
wiley   +1 more source

Nonprofit Governance and Financial Stability: A Study of Government‐Funded Social Services

Nonprofit Management and Leadership, EarlyView.
ABSTRACT Nonprofit social service providers are essential in delivering vital services, often with public funding. This study adopts a contingency perspective to explore the relationship between organizational governance and financial stability in publicly funded nonprofit organizations. We use a combination of comparative multilevel analysis (CMA) and
Florentine Maier, Michael Meyer, Josef Baumüller, Christian Grünhaus, Franka Walde   +4 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

A Phenomenon: What Are the Minuscule Grey Moths Abundant in the Dry Season in the Tropical Dry Forests of the Pacific Coast of Honduras?

Insects
Our investigation centered on the tropical dry forests along the Pacific coast of Honduras, aiming to elucidate the presence and abundance of minuscule grey moths during the dry season. Through specimen dissections and the taxonomic identification of the
Jonas R. Stonis, Andrius Remeikis, Arūnas Diškus, Viktorija Dobrynina, Svetlana Orlovskytė   +4 more
doaj   +1 more source

Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities

Prenatal Diagnosis, EarlyView.
ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan, Lucinda Freeman, Erin Turbitt, Alison McEwen   +3 more
wiley   +1 more source

Sustainable Development Goals (SDGs) in European Countries: An Analytical and Econometric Approach

Sustainable Development, EarlyView.
ABSTRACT Despite the growing policy relevance of the Sustainable Development Goals (SDGs) within the European Union, significant uncertainties remain regarding the extent to which European countries perform unevenly across different dimensions of sustainable development and whether higher levels of economic development necessarily translate into better
Inês Pereira, Margarita Robaina
wiley   +1 more source