Results 61 to 70 of about 874,608 (238)

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

open access: yesMolecular Cytogenetics, 2019
Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize
Wafa Slimani   +11 more
doaj   +1 more source

Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a ...
Min-Hui Huang   +10 more
doaj   +1 more source

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis

open access: yesMolecular Cytogenetics, 2023
Background Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis.
Yang Yang, Wang Hao
doaj   +1 more source

Finished Genome of the Fungal Wheat Pathogen Mycosphaerella graminicola Reveals Dispensome Structure, Chromosome Plasticity, and Stealth Pathogenesis [PDF]

open access: yes, 2011
The plant-pathogenic fungus Mycosphaerella graminicola (asexual stage: Septoria tritici) causes septoria tritici blotch, a disease that greatly reduces the yield and quality of wheat.
van de Geest, HC   +367 more
core   +2 more sources

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

open access: yesMolecular Cytogenetics, 2019
Background This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype ...
Huili Xue   +6 more
doaj   +1 more source

Multicolor chromosome bar codes [PDF]

open access: yes, 2006
Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

open access: yesAnimal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang   +3 more
wiley   +1 more source

Cumulative Reproductive‐Lactation Burdens Induce a Systemic Immunometabolic Trade‐Off Between Milk Yield and Mammary Health of Dairy Cows

open access: yesAnimal Research and One Health, EarlyView.
A population‐scale longitudinal transcriptomic atlas reveals how lactation stage and parity reshape systemic gene regulation in dairy cows. Multiomics‐inspired analyses uncover dynamic immune and metabolic adaptations that contribute to reproductive longevity and sustained productivity across the bovine lifespan.
Yangyang Shen   +8 more
wiley   +1 more source

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

open access: yesBalkan Journal of Medical Genetics, 2015
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation ...
İkbal Atli E   +4 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 21

open access: yes, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ ...
陳持平;Chen, Chih-Ping;Lin, Chyi-Chyang;Ko, Tsang-Ming;Tsai, Fuu-Jen;Chern, Schu-Rern;Lee, Chen-Chi;Chen, Yu-Ting;Wu, Pei-Chen;Wang, Wayseen   +1 more
core  

Home - About - Disclaimer - Privacy