Zobrazeno 1 - 10
of 88
pro vyhledávání: '"autosomal dominant disease"'
Autor:
Tomohisa Horikawa, MD, Sayaka Yamaguchi, PhD, MD, Takuya Omine, PhD, MD, Takuya Miyagi, MD, Daisuke Utsumi, PhD, MD, Kenzo Takahashi, PhD, MD
Publikováno v:
JAAD Case Reports, Vol 50, Iss , Pp 91-93 (2024)
Externí odkaz:
https://doaj.org/article/e146bf2185d34a488283f3d810a508bb
Akademický článek
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Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promye
Externí odkaz:
https://doaj.org/article/8d3704b595f241a7b56162c6eba992fa
Autor:
Xiao‐Yan Yang, Yan Meng, Yang‐Yang Wang, Yan‐Ping Lu, Qiu‐Hong Wang, Yan‐Qin You, Xiao‐Xiao Xie, Ling Bai, Nan Fang, Li‐Ping Zou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Noninvasive prenatal diagnosis (NIPD) based on cell‐free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease
Externí odkaz:
https://doaj.org/article/76828e5ebd98493891141704d0445f02
Publikováno v:
Case Reports in Dermatology, Vol 12, Iss 3, Pp 209-212 (2020)
Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and mace
Externí odkaz:
https://doaj.org/article/0f2fa20868fc4094b811f00377bd59c2
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
MYH9-related disease or disorder (MYH9-RD) is an autosomal dominant disease caused by mutations in the MYH9 gene. Mutations in this gene initially affect the hemic system, and other manifestations may evolve with age. Here, we report the case of a 46
Externí odkaz:
https://doaj.org/article/f913b0459ecb4a14af7e24f226d1ab9c
In this article, diseases caused by the violation of genetic information (hereditary information); It is mainly caused by mutations in chromosomes or genes and is passed down through generations. There is information about mutations occurring as a re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10488fbf1dbb72a9ff5cc90d43766f97
Publikováno v:
Case Reports in Dermatology
Case Reports in Dermatology, Vol 12, Iss 3, Pp 209-212 (2020)
Case Reports in Dermatology, Vol 12, Iss 3, Pp 209-212 (2020)
Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and mace
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983342f46fcf8a023fef5686d1d2e32f
http://europepmc.org/articles/PMC7747056
http://europepmc.org/articles/PMC7747056
Autor:
Floor Willeboordse, Lieke M. van den Heuvel, Wendy A. G. van Zelst-Stams, Daphne Stemkens, Imke Christiaans
Publikováno v:
Journal of Genetic Counseling, 29, 5, pp. 786-99
Journal of genetic counseling, 29(5), 786-799. SPRINGER
Journal of Genetic Counseling
Journal of genetic counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 29, 786-99
Journal of genetic counseling, 29(5), 786-799. SPRINGER
Journal of Genetic Counseling
Journal of genetic counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 29, 786-99
The uptake of predictive DNA testing in families with a hereditary disease is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff951047ce7ce5cfa15f4211ee474c6
https://doi.org/10.1002/jgc4.1206
https://doi.org/10.1002/jgc4.1206
Autor:
Deborah Schofield, S. Staffieri, D. Jelovic, Melanie J. B. Zeppel, Rupendra N. Shrestha, Robyn V. Jamieson, Evelyn Lee
Publikováno v:
Reproductive Biomedicine & Society Online, Vol 10, Iss, Pp 37-45 (2020)
Reproductive Biomedicine & Society
Reproductive Biomedicine & Society
This study aimed to investigate the cost-effectiveness of preimplantation genetic diagnosis (PGD) for the reproductive choices of patients with heritable retinoblastoma. The study modelled the costs of three cycles of in-vitro fertilization (IVF) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e3b103bb31f345a1df4fe1c201dd0c
https://doi.org/10.1016/j.rbms.2020.03.001
https://doi.org/10.1016/j.rbms.2020.03.001