Synthesis, structure, and characters of a novel large mercury (II) complex cyclophane based on benzimidazolin-2-ylidene units and anthracene units
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Coordination Chemistry"
DOI: 10.1080/00958972.2025.2495056
Abstract: Abstract A novel large mercury (II) complex cyclophane was synthesized. It was more than 30-membered macrometallacycle which was made up of four benzimidazolin-2-ylidene units and two anthracene units. Structures of the mercury (II) complex cyclophane… read more here.
Keywords: benzimidazolin ylidene; novel large; large mercury; complex cyclophane ... See more keywords
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006213
Abstract: Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the… read more here.
Keywords: deletion; neonatal marfan; frame; novel large ... See more keywords
Comparison of novel large‐bore and conventional‐bore covered self‐expandable metal stents for malignant gastric outlet obstruction: Multicenter, retrospective study
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DOI: 10.1111/den.14418
Abstract: Covered self‐expandable metal stent (cSEMS) for gastric outlet obstruction (GOO) has been developed to overcome tumor ingrowth but is prone to be associated with an increased risk of migration. Clinical impact of the novel large‐bore… read more here.
Keywords: outlet obstruction; self expandable; gastric outlet; novel large ... See more keywords
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review
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DOI: 10.1186/s13023-025-03701-8
Abstract: Thalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or structural variations (SVs) in the… read more here.
Keywords: read sequencing; structural variations; long read; novel large ... See more keywords
Molecular Characterization of Three Novel Large Deletions Causing α0-Thalassemia
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DOI: 10.3390/ijms26188783
Abstract: Alpha-thalassemia is most often caused by large deletions within the α-globin gene cluster which reduce or abolish α-globin chain synthesis. Several common deletions are well described, but atypical structural variants remain underdiagnosed. In this study,… read more here.
Keywords: characterization three; novel large; thalassemia; three novel ... See more keywords