Results 201 to 210 of about 48,766 (300)

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

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
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

Tracking karyotype dynamics by flow cytometry reveals de novo chromosome duplications in laboratory cultures of Macrostomum lignano. [PDF]

Biol Open
Mouton S, Glazenburg L, Berezikov E.
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

Spectral karyotyping (SKY).

Ecancermedicalscience, 2010
Belloni, E, Bonnomi, E, Lahortiga, I, Odero, MD, Di Fiore, PP, Pelicci, PG   +5 more
openaire   +2 more sources

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis. [PDF]

Acta Med Philipp
Sucaldito MSFP, Besa JJV, Palileo-Villanueva LM.   +2 more
europepmc   +1 more source