Results 181 to 190 of about 141,024 (299)

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain. [PDF]

Acta Myol
Armijo J, Nascimento A, Expósito J, Carrera L, Natera-de Benito D, Ortez C.   +5 more
europepmc   +1 more source

Regulatory compliance and support for altered management of the exotic pet trade

Conservation Biology, EarlyView.
Abstract Globally, the exotic pet trade has contributed to species invasion, disease, and animal welfare risks. Although scientists have advocated for increased trade regulation, the success of management and regulatory efforts depends on compliance by participants in the exotic pet trade. We used a regulatory compliance framework to investigate exotic
Elizabeth N. Pratt, Julie L. Lockwood, Elizabeth G. King, Elizabeth F. Pienaar   +3 more
wiley   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family. [PDF]

Children (Basel)
Ruta R, Massaccesi N, Mucciolo M, Sparaci A, Fabbrizi E, Novelli A.   +5 more
europepmc   +1 more source

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene. [PDF]

Clin Case Rep
E C, Ahmed M, Wang Y, Wang J, Wu S, Meng Z.   +5 more
europepmc   +1 more source

A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. [PDF]

F S Rep, 2023
Ruan Y, Feng W, Yang C.
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Hereditary Spherocytosis due to an SPTA1 Nonsense Mutation Coinherited With α spectrin^LELY in Trans. [PDF]

Am J Hematol
Molina-Arrebola MA, Bain BJ.
europepmc   +1 more source

A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle. [PDF]

Mamm Genome, 2023
Iwanaga Y, Tsuji K, Nishimura A, Tateishi K, Kakiuchi M, Tsuji T.   +5 more
europepmc   +1 more source