Results 201 to 210 of about 424,305 (326)

Correlation between Microarray DNA Hybridization Efficiency and the Position of Short Capture Probe on the Target Nucleic Acid

, 2005
Régis Peytavi, Liuying Tang, Frédéric Raymond, Karel Boissinot, Luc Bissonnette, Maurice Boissinot, François J. Picard, Ann Huletsky, Marc Ouellette, Michel G. Bergeron   +9 more
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

A universal DNA microarray for rapid fish species authentication. [PDF]

Food Chem (Oxf)
Bade P, Stix S, Kappel K, Fritsche J, Haase I, Torda A, Wax N, Fischer M, Brandis D, Schröder U.   +9 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

High-throughput single telomere analysis using DNA microarray and fluorescent in situ hybridization. [PDF]

Nucleic Acids Res
Zheng YL, Wu X, Williams M, Verhulst S, Lin J, Takahashi Y, Ma JX, Wang Y.   +7 more
europepmc   +1 more source

DNA microarray-based characterization and antimicrobial resistance phenotypes of clinical MRSA strains from animal hosts. [PDF]

J Vet Sci, 2020
Schmitt S, Stephan R, Huebschke E, Schaefle D, Merz A, Johler S.   +5 more
europepmc   +1 more source

DNA Microarray Analysis of Rat Liver after Ingestion of Japanese and American Food

, 2008
Tsuyoshi Tsuduki, Naoki Takeshika, Yumiko Nakamura, Kiyotaka Nakagawa, Miki Igarashi, Teruo Miyazawa   +5 more
openalex   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
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