Results 201 to 210 of about 148,643 (304)

ABSTRACTS

Precision Radiation Oncology, EarlyView.
wiley   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Integrated genomic and clinical indicators for predicting foetal chromosomal abnormalities: development and validation of a nomogram model. [PDF]

J Glob Health
Zhou Y, Liu P, Zhang X, Geng Q, Jia H, Wang Z, Zhou X, Li H, Zhang J, Liu C, Liu X, Kang W.   +11 more
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source

Clinical‐Grade Human Induced Pluripotent Stem Cell‐Derived Neural Precursor Cells Restore Motor Function and Preserve Striatal Integrity in a Quinolinic Acid‐Lesioned Rat Model of Huntington's Disease

Cell Proliferation, EarlyView.
Clinical‐grade HLA‐homozygous iPSC‐derived neural precursor cells restore motor function, rebuild striatal circuitry and reduce neuroinflammation in QA‐lesioned rats. These findings demonstrate robust neuronal replacement and microenvironment modulation, supporting their potential as a regenerative therapy for Huntington's disease.
Hyeonjoong Jeon, Il‐Shin Lee, Sanghun Lee, Hyo Chang Park, Beomsoo Kim, Hyun Sook Kim, Jihwan Song   +6 more
wiley   +1 more source

Cytogenetic analysis of some species of <i>Cyphomyrmex</i> Mayr, 1862 and <i>Apterostigma</i> Mayr, 1865 (Formicidae, Myrmicinae) from the Guiana Shield. [PDF]

Comp Cytogenet
Lod RB, Barros LAC, Silveira LI, Leitão EA, Teixeira GA, de Aguiar HJAC.   +5 more
europepmc   +1 more source

Establishment of Human Formative Pluripotent Stem Cell‐Like Cells Exhibiting Amniotic Differentiation Potentials

Cell Proliferation, EarlyView.
The hfPSC‐LCs could be established from naïve hESCs, conventional hESCs, hiPSCs, and human blastocysts. The hfPSC‐LCs hold robust capacity for three germ layers, hPGCLCs, and hALPCs. ABSTRACT Human embryos undergo pivotal morphogenetic remodelling shortly after implantation. The understanding of this crucial stage is severely impeded by the scarcity of
Xiaoxiao Wang, Qizhi Wang, Yu Wu, Chen Gu, Mingfei Li, Yong Fan, Xiangjin Kang, Lei Li, Zheng Gao, Mingyan Hei, Jianqiao Liu, Lei Li   +11 more
wiley   +1 more source

A Rare Case of De Novo Acute Myeloid Leukemia, Featuring a <i>KMT2A</i> (<i>MLL</i>) Amplification. [PDF]

Diagnostics (Basel)
Hassan F, Chen J, Westphal C, Tirado CA.
europepmc   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source