Results 41 to 50 of about 113,215 (275)

Analysis of acid-stressed Bacillus cereus reveals a major oxidative response and inactivation-associated radical formation [PDF]

, 2010
Acid stress resistance of the food-borne human pathogen Bacillus cereus may contribute to its survival in acidic environments, such as encountered in soil, food and the human gastrointestinal tract. The acid stress responses of B.
Abee, T., Kranenburg, R., van, Melis, C.C.J., van, Moezelaar, R., Mols, J.M.   +4 more
core   +2 more sources

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Jornal de Pediatria (Versão em Português), 2015
Objectives: Clinical use of microarray‐based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first‐tier test. This study reports the first experience in
Guillermo Lay‐Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto   +5 more
doaj   +3 more sources

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

Вопросы современной педиатрии, 2016
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3).
Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin   +5 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Journal of International Medical Research, 2022
The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29.
Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang   +3 more
doaj   +1 more source

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 more
core   +4 more sources

GenomeGraphs: integrated genomic data visualization with R. [PDF]

, 2009
BackgroundBiological studies involve a growing number of distinct high-throughput experiments to characterize samples of interest. There is a lack of methods to visualize these different genomic datasets in a versatile manner.
Bullard, James, Dudoit, Sandrine, Durinck, Steffen, Spellman, Paul T   +3 more
core   +3 more sources

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

International Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications

Taiwanese Journal of Obstetrics & Gynecology
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 ...
Xiaolin Wang, Yujiao Wang, Xinqiang Lan
doaj   +1 more source

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

Risk Management and Healthcare Policy, 2021
Hailong Huang,1,* Meiying Cai,1,* Wei Ma,1,2 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province ...
Huang H, Cai M, Ma W, Lin N, Xu L
doaj  

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

Human Genomics, 2022
Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic ...
Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He, Jian Lu   +9 more
doaj   +1 more source