Zobrazeno 1 - 10
of 835
pro vyhledávání: '"phenotypic spectrum"'
Autor:
Zhenkun Zhang, Xiaofan Bie, Zhehui Chen, Jing Liu, Zhenhua Xie, Xian Li, Mengjun Xiao, Qiang Zhang, Yaodong Zhang, Yanling Yang, Dongxiao Li
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily respon
Externí odkaz:
https://doaj.org/article/dfa9338e847f4cdd9b4008f6a911b44d
Autor:
Louisa Ashby, Lydia Chan, Christine Winterbourn, See‐Tarn Woon, Paula Keating, Raoul Heller, Rohan Ameratunga, Ignatius Chua, Kuang‐Chih Hsiao
Publikováno v:
Clinical & Translational Immunology, Vol 13, Iss 2, Pp n/a-n/a (2024)
Abstract Objectives Dominant‐activating (DA) lesions in RAC2 have been reported in 18 individuals to date. Some have required haematopoietic stem cell transplantation (HSCT) for their (severe) combined immunodeficiency syndrome phenotype. We aimed
Externí odkaz:
https://doaj.org/article/003ab3e61a7d4630b7443a22864459a9
Autor:
Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)
Abstract Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant i
Externí odkaz:
https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f
Akademický článek
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Autor:
Basma Karrakchou, Amani Fliti, Amal El Fiboumi, Fouad Kettani, Karima Senouci, Mariame Meziane
Publikováno v:
Dermatology Practical & Conceptual, Vol 13, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/9698011dd70944eb825cc87d0742fe62
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-21 (2022)
Abstract Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and r
Externí odkaz:
https://doaj.org/article/db52d4935dcd4f328ef4486bf0a50f6e
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2983 (2023)
Background and objectives: Congenital myasthenic syndromes (CMSs) are rare inherited diseases characterized by muscle weakness and fatigability on exertion resulting from defects in the neuromuscular junctions. Mutations in 32 genes have been reporte
Externí odkaz:
https://doaj.org/article/d016e87e1f5043e8877b3d15029e3dcd
Autor:
He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-rec
Externí odkaz:
https://doaj.org/article/b601bc1550304356a3e03169d165a412
Autor:
Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
ObjectiveThis study analyzed eight Chinese short stature children with aggrecan deficiency, and aimed to investigate potential genotype–phenotype correlations, differences in clinical characteristics between the Chinese and the Western populations,
Externí odkaz:
https://doaj.org/article/4d1b3120cff846b9a4e34863bb428f9e