体细胞变异对神经系统常见肿瘤和发育异常类疾病的致病性
刘芳， 宋小珍， 谢华， 陈晓丽 - 遗传, 2016 - chinagene.cn
在生物体发育过程中各种内源性及外源性因素均可造成DNA 损伤, 引起体细胞变异.
研究表明体细胞变异对肿瘤具有致病性作用, 而体细胞变异对神经系统发育异常类疾病的致病性 …
研究表明体细胞变异对肿瘤具有致病性作用, 而体细胞变异对神经系统发育异常类疾病的致病性 …
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
SH Seo, HS Ahn, YS Yu, HJ Kang, KD Park… - Clinical …, 2013 - search.ebscohost.com
The article presents a study of mutation spectrum of RB1 gene in South Korean patients with
retinoblastoma, the most common form of childhood intraocular tumor. It involved extracting …
retinoblastoma, the most common form of childhood intraocular tumor. It involved extracting …
精神分裂症基因组学研究进展
薛潮彪， 陈曲亮， 朱俊， 胡金涛， 洪晓虹 - 国际精神病学杂志, 2014 - cqvip.com
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Соматический мозаицизм при спорадической ретинобластоме
ЕА Алексеева, КО Карандашева… - Медицинская …, 2021 - medgen-journal.ru
Аннотация Введение. Спорадическая ретинобластома развивается в результате
мутаций de novo в обоих аллелях гена RB1 в клетках сетчатки глаза. При …
мутаций de novo в обоих аллелях гена RB1 в клетках сетчатки глаза. При …
[HTML][HTML] A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX
H Shimbo, S Ninomiya, K Kurosawa… - Journal of human genetics, 2014 - nature.com
In clinical practice, it is important to diagnose the carrier state of female patients with X-
linked diseases for genetic counseling to calculate the recurrent risk of offspring. Because …
linked diseases for genetic counseling to calculate the recurrent risk of offspring. Because …
Investigating the role of microglia risk genes in Alzheimer's disease
M Vassileva - 2023 - orca.cardiff.ac.uk
Alzheimer's disease (AD) is the most common form of dementia. It affects over 155 million
people worldwide and represents a huge social and economic burden. Recent genetic …
people worldwide and represents a huge social and economic burden. Recent genetic …
[PDF][PDF] 全外显子组测序: 儿童疾病诊断新思路
马丁， 艾遥， 马丁， 艾路， 王慧君， 周文浩 - 中国循证儿科杂志, 2015 - cjebp.net
作者单位1 复旦大学附属儿科医院上海, 201102; 2 上海市出生缺陷防治重点实验室,
复旦大学儿童发育与疾病转化医学研究中心, 卫生部新生儿疾病重点实验室 …
复旦大学儿童发育与疾病转化医学研究中心, 卫生部新生儿疾病重点实验室 …
Mosaicism in traditional Mendelian diseases
TW Ting, R Shahdadpuri, SS Jamuar - Current Genetic Medicine Reports, 2015 - Springer
Somatic mutations are post-zygotic mutational event that leads to generation of two or more
genotypes within an individual. With the recent advances in genomic technologies, there is …
genotypes within an individual. With the recent advances in genomic technologies, there is …
Postzygotic and germinal de novo mutations in ASD: exploring their biological role
A Alonso-González, M Calaza, J Amigo… - bioRxiv, 2020 - biorxiv.org
De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a
strong source of causality for Autism Spectrum Disorder (ASD). However, the biological …
strong source of causality for Autism Spectrum Disorder (ASD). However, the biological …
Somatic mosaicism in sporadic retinoblastoma
EA Alekseeva, KO Karandasheva… - Medical …, 2021 - medgen-journal.ru
Background. Sporadic retinoblastoma develops as a result of de novo mutations in both
alleles of the RB1 gene. Often in sporadic retinoblastoma, the initial mutation in RB1 is …
alleles of the RB1 gene. Often in sporadic retinoblastoma, the initial mutation in RB1 is …