Results 191 to 200 of about 414,545 (349)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Diagnostic accuracy and clinical impact of DNA microarray chip in pulmonary mycobacterial infections: a retrospective cohort study. [PDF]

BMC Infect Dis
Xiang B, Zeng W, Wu M, Ye J, Lin Z, Jiang Y.   +5 more
europepmc   +1 more source

Digital DNA microarray generation on glass substrates. [PDF]

Sci Rep, 2020
Wöhrle J, Krämer SD, Meyer PA, Rath C, Hügle M, Urban GA, Roth G.   +6 more
europepmc   +1 more source

Variability of DNA Microarray Gene Expression Profiles in Cultured Rat Primary Hepatocytes [PDF]

, 2007
Jun Xu, Xutao Deng, Victor Chan, Nancy Kelley‐Loughnane, Brent W. Harker, Leming Shi, Saber M. Hussain, John M. Frazier, Charles Wang   +8 more
openalex   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

OpenIDS2: A low-cost, 3D-printed, open-source platform for reproducible construction of DNA microarray synthesizers. [PDF]

PLoS One
Kim J, Kim H, Bang D.
europepmc   +1 more source

Elucidation of the Potential Hair Growth-Promoting Effect of Botryococcus terribilis, Its Novel Compound Methylated-Meijicoccene, and C32 Botryococcene on Cultured Hair Follicle Dermal Papilla Cells Using DNA Microarray Gene Expression Analysis. [PDF]

Biomedicines, 2022
Oliva AK, Bejaoui M, Hirano A, Arimura T, Linh TN, Uchiage E, Nukaga S, Tominaga K, Nozaki H, Isoda H.   +9 more
europepmc   +1 more source

Diagnostische DNA-Microarrays zum Nachweis von Beta-Lactam-Resistenzen in der klinischen Mikrobiologie mittels Genotypisierung bakterieller Resistenzgene

, 2009
Dirk M. Leinberger
openalex   +2 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Development of DNA Microarray for Indication of Viral Community-Acquired Pneumonia Pathogens. [PDF]

Sovrem Tekhnologii Med
Sakharnov NA, Filatova EN, Popkova MI, Lukovnikova LB, Bahmeteva MO, Slavin SL, Utkin OV.   +6 more
europepmc   +1 more source