Results 161 to 170 of about 49,802 (297)

Pathological exon skipping in an HNPCC proband withMLH1 splice acceptor site mutation [PDF]

, 2000
Luka A. Clarke, Isabel Veiga, Glória Isidro, Peter Jordan, Jos� Silva Ramos, Sérgio Castedo, Maria Guida Boavida   +6 more
openalex   +1 more source

Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights

Developmental Medicine &Child Neurology, EarlyView.
Claudia Brogna, Eugenio Mercuri
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome [PDF]

, 2000
Jeanette Hamlington, Mark V. Clough, Jennifer A. Dunston, Iain McIntosh   +3 more
openalex   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, Volume 98, Issue 5, Page 951-966, November 2025.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

Circular RNAs from transcripts of the rat cytochrome P450 2C24 gene: correlation with exon skipping.

, 1996
Peter G. Zaphiropoulos
openalex   +1 more source

Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion [PDF]

, 2000
Qi Long Lu, Glenn E. Morris, Steve D. Wilton, T. Ly, Olga V. Artemyeva, Peter Strong, Terence A. Partridge   +6 more
openalex   +1 more source

CUSCO: A Tool for Curating Single‐Copy Orthologs and Extracting Marker Genes for Phylogenetic Tree Construction With Extra Samples

Ecological Research, Volume 40, Issue 6, November 2025.
We developed the CUSCO pipeline. It enables rapid construction of a phylogenetic tree using whole genome sequences and identifies useful marker genes for additional samples. It can handle polyploid genomes. ABSTRACT Single‐copy orthologs are often used to reconstruct phylogenetic trees of life. A set of single‐copy orthologs can be prepared by building
Takashi Seiko, Koki Nagasawa, Ken Naito
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI

, 1995
Francesca Zolezzi, Antonella Forlino, Monica Mottes, Maurizia Valli, Alberto Sensi, Elisa Calzolari, Pier Franco Pignatti, Giuseppe Cetta   +7 more
openalex   +1 more source