Results 211 to 220 of about 1,129,617 (326)

Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility. [PDF]

J Hum Reprod Sci
Priya PK, Patel H, Dalal D, Shah A.
europepmc   +1 more source

Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. [PDF]

Sci Rep, 2022
Stachowiak M, Szczerbal I, Nowacka-Woszuk J, Nowak T, Sowinska N, Lukomska A, Gogulski M, Badura M, Sklorz-Mencel K, Jagodka D, Nizanski W, Dzimira S, Switonski M.   +12 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Trisomy 26 in a Holstein calf with disorders of sex development. [PDF]

Anim Genet
Freick M, Jacinto JGP, Häfliger IM, Weber J, Behn H, Schreiter R, Drögemüller C.   +6 more
europepmc   +1 more source

Cohort profile: pathways to care among people with disorders of sex development (DSD). [PDF]

BMJ Open, 2022
Goodman M, Yacoub R, Getahun D, McCracken CE, Vupputuri S, Lash TL, Roblin D, Contreras R, Cromwell L, Gardner MD, Hoffman T, Hu H, Im TM, Prakash Asrani R, Robinson B, Xie F, Nash R, Zhang Q, Bhai SA, Venkatakrishnan K, Stoller B, Liu Y, Gullickson C, Ahmed M, Rink D, Voss A, Jung HL, Kim J, Lee PA, Sandberg DE.   +29 more
europepmc   +1 more source

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development [PDF]

, 2016
Dorien Baetens, Hans Stoop, Frank Peelman, Anne‐Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H. J. Looijenga, Elfride De Baere, Martine Cools   +9 more
openalex   +1 more source

Clinical heterogeneity and molecular genetic causes in a cohort of patients with disorders/differences of sex development

, 2021
Irina L. Nikitina, Leyla R. Sarakaeva, Anna Kostareva, E. К. Kudryashova   +3 more
openalex   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature. [PDF]

Orphanet J Rare Dis
Li Y, Zhao M, Liu Y, Wang L, Huang Y, Wang F.   +5 more
europepmc   +1 more source

Vulvar-vaginal reconstruction surgery for sexual function in patient with disorders of sex development. [PDF]

Int J Surg Case Rep, 2022
Moegni F, Nilasari D, Hakim S, Priyatini T, Meutia AP, Hidayah GN.   +5 more
europepmc   +1 more source