Results 221 to 230 of about 2,596,459 (367)

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 Parallel Detection of Community-Acquired Pneumonia Bacterial Pathogens. [PDF]

Sovrem Tekhnologii Med
Sakharnov NA, Filatova EN, Popkova MI, Slavin SL, Utkin OV.   +4 more
europepmc   +1 more source

DNA Microarray Analysis of Differential Gene Expression in the Dorsal Root Ganglia of Four Different Neuropathic Pain Mouse Models. [PDF]

J Pain Res, 2020
Yokoyama H, Hirai T, Nagata T, Enomoto M, Kaburagi H, Leiyo L, Motoyoshi T, Yoshii T, Okawa A, Yokota T.   +9 more
europepmc   +1 more source

Combining DNA-microarray data in systemic lupus erythematosus [PDF]

, 2011
Cornelis L. Verweij, Saskia Vosslamber
openalex   +1 more source

A tiling resolution DNA microarray with complete coverage of the human genome

Nature Genetics, 2004
A. Ishkanian, C. Malloff, S. Watson, R. deLeeuw, Bryan Chi, Bradley P. Coe, A. Snijders, D. Albertson, D. Pinkel, M. Marra, V. Ling, C. MacAulay, W. Lam   +12 more
semanticscholar   +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

Diazirines Beyond Photoaffinity Labeling: A Comprehensive Overview of Applications in Biological Sciences, Materials Chemistry, and NMR‐Spectroscopy

Angewandte Chemie, EarlyView.
Diazirines are three‐membered, nitrogen‐containing heterocycles that decompose under light or heat to generate carbenes. For the past two decades, they have served mainly as minimally invasive tags in photoaffinity labeling (PAL). More recently, their value as versatile carbene precursors has been recognized.
Dominik Schnalzer, Viktor Savic, Clemens Cziegler, Michael Schnürch, Marko D. Mihovilovic   +4 more
wiley   +2 more sources

CyanoStrainChip: A Novel DNA Microarray Tool for High-Throughput Detection of Environmental Cyanobacteria at the Strain Level. [PDF]

Environ Sci Technol
Shu HY, Zhao L, Jia Y, Liu FF, Chen J, Chang CM, Jin T, Yang J, Shu WS.   +8 more
europepmc   +1 more source

Corrigendum to: Association between matrix Gla protein and ulcerative colitis according to DNA microarray data. [PDF]

Gastroenterol Rep (Oxf), 2020
Dong XY, Wu MX, Zhang HM, Lyu H, Qian JM, Yang H.   +5 more
europepmc   +1 more source

DNA Microarray Analyses of the Long-Term Adaptive Response ofEscherichia colito Acetate and Propionate

, 2003
Tino Polen, Doris Rittmann, Volker F. Wendisch, Hermann Sahm   +3 more
openalex   +2 more sources