Results 151 to 160 of about 169,190,458 (279)

Neurofibromatosis Masquerading as Disorder of Sex Development

Indian Journal of Endocrinology and Metabolism, 2019
Swayamsidha Mangaraj, Ipsita Mishra, Annada Prasad Patnaik, Arun Kumar Choudhury, Anoj Kumar Baliarsinha   +4 more
openaire   +3 more sources

The intersection of disorders of sex development and cardiovascular diseases. [PDF]

Biol Sex Differ
Hashmi S, Aherrahrou R.
europepmc   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Identification and Functional Characteristics of <i>NR5A1</i> Gene Variant in Patients with 46,XY Disorders of Sex Development. [PDF]

Genes (Basel)
He L, Li L, Li Y, Sun Y, Zheng Z, Chu C, Chen S, Li L.   +7 more
europepmc   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants. [PDF]

Biol Sex Differ
Liu Q, Zang S, Li Y, Yin X, Li P.
europepmc   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Annual loan and grant report to the Legislature

, 2006
Annual; Electronic coverage as of Dec. 15, 2005: 2000-; Description based on: 2000; title from cover of PDF document (viewed Dec. 15, 2005).; Report year runs from Jan. 1-Dec.
Ohio. Dept. of Development.
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