Results 101 to 110 of about 22,467,747 (285)

Microarray data mining using Bioconductor packages [PDF]

, 2009
Background - This paper describes the results of a Gene Ontology (GO) term enrichment analysis of chicken microarray data using the Bioconductor packages.
Leunissen JA, van der Poel, J.J., van der Poel J, Martien AM Groenen, Neerincx, P., Groenen, M.A.M., Pieter BT Neerincx, Francesco Ferrari, Nie H, Neerincx PB, Nie, H., Silvio Bicciato, Ferrari, F., Groenen MA, Haisheng Nie, Leunissen, J.A.M., Bicciato, S., FERRARI, Francesco, Poel, J.J., van der, Jan Poel, Jack AM Leunissen, BICCIATO, Silvio   +21 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objectives: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
Manna Sun, Jiwu Lou, Qiaoyi Li, Jianhong Chen, Yujuan Li, Dongzhi Li, Haiming Yuan, Yanhui Liu   +7 more
doaj   +1 more source

Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery

Brain and Spine
Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique. Offering unparalleled sensitivity, CMA detects submicroscopic chromosomal imbalances, enabling the examination of DNA for copy number variations, deletions, duplications, and ...
Wireko Andrew Awuah, Muhammad Hamza Shah, Vivek Sanker, Krishitha Meenu Mannan, Sruthi Ranganathan, Princess Afia Nkrumah-Boateng, Mabel Frimpong, Kwadwo Darko, Joecelyn Kirani Tan, Toufik Abdul-Rahman, Oday Atallah   +10 more
openaire   +5 more sources

Defects in lamin B1 expression or processing affect interphase chromosome position and gene expression [PDF]

, 2007
Copyright @ 2007 The Rockefeller UniversityRadial organization of nuclei with peripheral gene-poor chromosomes and central gene-rich chromosomes is common and could depend on the nuclear boundary as a scaffold or position marker. To test this, we studied
Vaux, DJ, David J. Vaux, Lee, Chiu, Lee, CF, Rebecca Sanders, Malhas, A, Ashraf Malhas, Chiu Fan Lee, Saunders, Nigel, Saunders, NJ, Sanders, R, Nigel J. Saunders   +11 more
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Hot Transcriptomics [PDF]

, 2010
DNA microarray technology allows for a quick and easy comparison of complete transcriptomes, resulting in improved molecular insight in fluctuations of gene expression.
van der Oost, J., Jasper Walther, Oost, J., van der, Walther, J., Pawel Sierocinski, Sierocinski, P., John van der Oost   +6 more
core   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature 

Journal of Medical Case Reports
Background Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20–40 years of age.
Keela R. Scott, Melissa A. Gener, Elena A. Repnikova   +2 more
doaj   +1 more source

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine, 2020
Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can
Chen Shuang, Yu Yang, Zhang Han, Li Leilei, Jiang Yuting, Liu Ruizhi, Zhang Hongguo   +6 more
doaj   +1 more source