Results 101 to 110 of about 5,996,346 (272)
Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC). [PDF]
Xing HX +5 more
europepmc +1 more source
[[abstract]]We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine ...
陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Yi-Yung;Su, Jun-Wei;Wang, Wayseen;
core
Identification of Novel Interacting Proteins of FUZ and GPR161
ABSTRACT Protein–protein interactions are central to the dynamic regulation of signaling pathways and provide critical insight into the cellular mechanisms underlying human disease. Our previous study demonstrated biochemical and genetic interactions between FUZ and GPR161 in sonic hedgehog signaling during spinal neural tube development. In this study,
Gabriella Salazar +3 more
wiley +1 more source
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review. [PDF]
Syu YM +7 more
europepmc +1 more source
This review bridges the gap between understanding resistance mechanisms and applying them in weed management, highlighting how mechanistic insights reveal vulnerabilities that can guide more effective control strategies. Abstract Herbicide resistance remains one of the most intensively studied areas in weed science because of its direct consequences ...
Luan Cutti +3 more
wiley +1 more source
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence in situ hybridization ...
Chih-Ping Chen +9 more
doaj +1 more source
The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes. [PDF]
Weber A +6 more
europepmc +1 more source
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients
A small supernumerary chromosome was observed in two Prader-Willi syndrome (PWS) patients. The clinical diagnosis of PWS was confirmed by the ascertainment of the deletion of region 15q11-13 in one case and uniparental disomy (UPD) of the same region in ...
L. Larizza +6 more
core +1 more source
Lymphoma is a group of blood cancers that can appear in lymph nodes, blood, bone marrow, spleen, liver, or the central nervous system, which makes drug delivery and disease monitoring difficult. This review summarizes how nanomedicine technologies may improve targeted treatment and imaging, while carefully separating approved or guideline‐supported ...
Mohd Ahmar Rauf +5 more
wiley +1 more source
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of ...
Chih-Ping Chen +10 more
doaj +1 more source

