Results 181 to 190 of about 142,271 (283)

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

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

A novel <i>de novo IL2RG</i> nonsense mutation in a pediatric patient with X-linked severe combined immunodeficiency. [PDF]

Front Genet
Wang L, Ren A, He Y, Wang L, Wang S, Xie X, Tan M, Chen Y, Huang P, Du Z.   +9 more
europepmc   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 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

The clinical spectrum of a nonsense mutation in KAT6A: a case report. [PDF]

J Int Med Res, 2022
Wang D, He J, Li X, Yan S, Pan L, Wang T, Zhou L, Liu J, Peng X.   +8 more
europepmc   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation. [PDF]

Pediatr Investig, 2023
Wang S, Yang Z, Liu Y, Zhang H, Liu Z, Wang X, Li Y, Liu H, Yang Y, Ma L.   +9 more
europepmc   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy. [PDF]

Drugs R D
Bello L, Riguzzi P, Albamonte E, Astrea G, Battini R, Barp A, Berardinelli AL, Bertini ES, Brolatti N, Bruno C, Corti S, D'Amico A, D'Angelo MG, Dallavalle G, Liguori R, Maggi L, Magri F, Mancuso M, Masson R, Mercuri E, Minetti C, Messina S, Mongini T, Musumeci O, Nigro V, Pane M, Panicucci C, Pedemonte M, Pini A, Politano L, Previtali S, Ricci F, Ricci G, Ruggiero L, Sansone V, Siciliano G, Trabacca A, Trucco F, Velardo D, Pegoraro E, Comi GP.   +40 more
europepmc   +1 more source