Results 211 to 220 of about 410,424 (355)

^{The role of noble bumblebee (Bombus terrestris) queen glycosaminoglycan in aged rat and gene expression profile based on DNA microarray}. [PDF]

Toxicol Res, 2021
Ahn MY, Yoon HJ, Hwang JS, Jin JM, Park KK.   +4 more
europepmc   +1 more source

Manufacturing DNA microarrays of high spot homogeneity and reduced background signal [PDF]

, 2001
Frank Diehl
openalex   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Global analysis of growth phase responsive gene expression and regulation of antibiotic biosynthetic pathways inStreptomyces coelicolorusing DNA microarrays [PDF]

, 2001
Jianqiang Huang, Chih‐Jian Lih, Kuang‐Hung Pan, Stanley N. Cohen   +3 more
openalex   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Fast Spot Locating for Low-Density DNA Microarray. [PDF]

Sensors (Basel)
Kim M, Kim J, Kim SH, Kim JD.
europepmc   +1 more source

Development of a DNA microarray assay for rapid detection of fifteen bacterial pathogens in pneumonia. [PDF]

BMC Microbiol, 2020
Ma X, Li Y, Liang Y, Liu Y, Yu L, Li C, Liu Q, Chen L.   +7 more
europepmc   +1 more source

DNA Microarray-Mediated Transcriptional Profiling of the Escherichia coli Response to Hydrogen Peroxide

, 2001
Ming Zheng, Xunde Wang, Lori J. Templeton, Dana R. Smulski, Robert A. LaRossa, Gisela Storz   +5 more
openalex   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source