Zobrazeno 1 - 10
of 166
pro vyhledávání: '"Postzygotic mutation"'
Autor:
Roberta Zuntini, Chiara Cattani, Lucia Pedace, Evelina Miele, Stefano Giuseppe Caraffi, Stefano Gardini, Elena Ficarelli, Simone Pizzi, Francesca Clementina Radio, Angelica Barone, Simonetta Piana, Patrizia Bertolini, Domenico Corradi, Maria Marinelli, Caterina Longo, Alberico Motolese, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko’s lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18 months o
Externí odkaz:
https://doaj.org/article/11c9a2f28d984570a4371bea13d887a7
Autor:
Yaqiang Hong, Dake Zhang, Xiangtian Zhou, Aili Chen, Amir Abliz, Jian Bai, Liang Wang, Qingtao Hu, Kenan Gong, Xiaonan Guan, Mengfei Liu, Xinchang Zheng, Shujuan Lai, Hongzhu Qu, Fuxin Zhao, Shuang Hao, Zhen Wu, Hong Cai, Shaoyan Hu, Yue Ma, Junting Zhang, Yang Ke, Qian-Fei Wang, Wei Chen, Changqing Zeng
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 177-191 (2022)
Postzygotic mutations are acquired in normal tissues throughout an individual’s lifetime and hold clues for identifying mutagenic factors. Here, we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome se
Externí odkaz:
https://doaj.org/article/40f7d499a249494bb108fc3b3d79f158
Autor:
Rudolf Happle
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 7, p adv00090 (2020)
In 1945, the Journal of Heredity published an impressive article entitled “A human mosaic: bilaterally asymmetrical noevus pigmentosus pilosus et mollusciformis unilateralis.” The author was M. Zlotnikoff, a Russian physician working in Ivanovo,
Externí odkaz:
https://doaj.org/article/f681e7b11bc840d2a92842e44abc8927
Autor:
Changqing Zeng, Amir Abliz, Yaqiang Hong, Xinchang Zheng, Zhen Wu, Xiaonan Guan, Qianfei Wang, Mengfei Liu, Qingtao Hu, Aili Chen, Fuxin Zhao, Jian Bai, Shaoyan Hu, Hong Cai, Wei Chen, Junting Zhang, Xiangtian Zhou, Dake Zhang, Yang Ke, Kenan Gong, Yue Ma, Hongzhu Qu, Liang Wang, Shujuan Lai, Shuang Hao
Publikováno v:
Genomics, Proteomics & Bioinformatics. 20:177-191
Postzygotic mutations are acquired in normal tissues throughout an individual's lifetime and hold clues for identifying mutagenic factors. Here, we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b246599704da48424c0c81cefb1cd3
https://doi.org/10.1016/j.gpb.2021.09.005
https://doi.org/10.1016/j.gpb.2021.09.005
Autor:
Leanne de Kock, John R. Priest, Anne-Sophie Chong, Dorothée Bouron-Dal Soglio, William D. Foulkes, María Apellániz-Ruiz, William R Doyle, Barbara Rivera
Publikováno v:
Journal of Medical Genetics. 59:723-726
In 2016, we reported a child with bilateral lung cysts and left lung type II pleuropulmonary blastoma (PPB), classic phenotypes of DICER1 syndrome; we identified a DICER1 hotspot mutation c.5425G>A, p.Gly1809Arg in both a lung cyst and PPB, but the v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39a878fce9f6917a5c44497cd137636
https://doi.org/10.1136/jmedgenet-2021-107887
https://doi.org/10.1136/jmedgenet-2021-107887
Autor:
Alissa M. D'Gama
Publikováno v:
Genes
Genes, Vol 12, Iss 1699, p 1699 (2021)
Genes, Vol 12, Iss 1699, p 1699 (2021)
Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb0523746016581fe1993292bfb3686c
https://pubmed.ncbi.nlm.nih.gov/34828306
https://pubmed.ncbi.nlm.nih.gov/34828306
Autor:
Daniele Torchia
Publikováno v:
Pediatric Dermatology. 38:359-363
Nevus comedonicus (NC) syndrome is a condition first identified in 1978. The cause of NC syndrome has been recently proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. A systematic review of the literature retrieved 43 well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365086c53e416340da54ab5b90ff28e
https://doi.org/10.1111/pde.14508
https://doi.org/10.1111/pde.14508
Akademický článek
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Autor:
M. van Geel, Marieke M B Seyger, T.E.J. Theunissen, Ernie M.H.F. Bongers, F.S. van Leersum, Peter M. Steijlen
Publikováno v:
British Journal of Dermatology, 182, 1, pp. 208-211
British Journal of Dermatology, 182(1), 208-211. Wiley
British Journal of Dermatology, 182, 208-211
British Journal of Dermatology, 182(1), 208-211. Wiley
British Journal of Dermatology, 182, 208-211
Contains fulltext : 218236pub.pdf (Publisher’s version ) (Open Access) We report the unique case of a 3-year-old girl who presented with linear erythematosquamous lesions following the lines of Blaschko, suggestive of genetic mosaicism in the skin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d416ca8cb5be5148a3df106a43a165f6
https://doi.org/10.1111/bjd.18216
https://doi.org/10.1111/bjd.18216
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e195-e197
Neurocutaneous melanocytosis (NCM) is a disorder characterized by multiple or large congenital nevi and excessive proliferation of melanocytes in the leptomeninges and brain parenchyma. The majority of NCM is a result of somatic mosaicism due to a si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c120e6669321d460e9603d1dbee52e32
https://doi.org/10.1097/mph.0000000000001680
https://doi.org/10.1097/mph.0000000000001680