Results 191 to 200 of about 424,305 (326)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 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

Development and Clinical Evaluation of a Highly Sensitive DNA Microarray for Detection and Genotyping of Human Papillomaviruses

, 2004
Tae Jeong Oh, Chang Jin Kim, Suk Kyung Woo, Tae Seung Kim, Dong Jun Jeong, Myung Soon Kim, Sunwoo Lee, Hyun Sill Cho, Sungwhan An   +8 more
openalex   +2 more sources

DNA Microarrays Are Predictive of Cancer Prognosis: A Re-evaluation [PDF]

, 2010
Xiaohui Fan, Leming Shi, Hong Fang, Yiyu Cheng, Roger Perkins, Weida Tong   +5 more
openalex   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 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

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

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 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