[HTML][HTML] Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: a case report and a review of the literature
W Zhang, T Lv, J Huang, X Ou - Medicine, 2017 - journals.lww.com
Rationale: Hereditary hemochromatosis can be divided into HFE-and non-HFE-related
based on genetic mutations in different genes. HFE-related hemochromatosis is the most …
based on genetic mutations in different genes. HFE-related hemochromatosis is the most …
[HTML][HTML] Novel MSX1 variants identified in families with nonsyndromic oligodontia
J Zheng, M Yu, H Liu, T Cai, H Feng, Y Liu… - International journal of …, 2021 - nature.com
The goal of this study was to identify MSX1 gene variants in multiple Chinese families with
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …
Orodental malformations associated with human MSX1 sequence variants
YL Wang, KY Chu, TF Hsieh, CCJ Yao, CH Lin… - The Journal of the …, 2024 - Elsevier
Background MSX1 sequence variants have been known to cause human tooth agenesis
(TA) with or without orofacial clefts. However, their roles during the whole processes of tooth …
(TA) with or without orofacial clefts. However, their roles during the whole processes of tooth …
Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families
Y Zhao, J Ren, L Meng, Y Hou, C Liu… - … Genetics & Genomic …, 2024 - Wiley Online Library
Abstract Background MSX1 (OMIM# 142983) is crucial to normal dental development, and
variants in MSX1 are associated with dental anomalies. The objective of this study was to …
variants in MSX1 are associated with dental anomalies. The objective of this study was to …
[HTML][HTML] Hypohidrotic Ectodermal Dysplasia: Genetic aspects and clinical implications of hypodontia
TS Roberts, M Chetty - South African Dental Journal, 2018 - scielo.org.za
Hypohidrotic Ectodermal Dysplasia (HED) is a rare genetic disorder, characterised by a
distinctive facies, hypotrichosis and hypohidrosis. Hypodonita/ogligodontia is a significant …
distinctive facies, hypotrichosis and hypohidrosis. Hypodonita/ogligodontia is a significant …
A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia
T Ma, Y Liu, X Zhao, J Wu, H Wang… - Annals of Human …, 2020 - Wiley Online Library
Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the
causal gene mutation sites in a family with nonsyndromic oligodontia, whole‐exome …
causal gene mutation sites in a family with nonsyndromic oligodontia, whole‐exome …
[PDF][PDF] 先天缺牙相关基因的研究进展
胡荣荣， 于彦君， 陈远萍 - 海南医学, 2017 - hainanyixue.cn
先天缺牙属于牙齿发育异常中的数目异常, 是一种临床常见疾病, 对患者的咀嚼功能, 美观,
发音及心理健康都有着严重影响. 根据是否伴发全身症状, 可将先天缺牙分为综合征性先天缺牙 …
发音及心理健康都有着严重影响. 根据是否伴发全身症状, 可将先天缺牙分为综合征性先天缺牙 …
[PDF][PDF] Phänotypische Untersuchung von Zahnanomalien am Beispiel der Hunderasse Hovawart
N Triebel - 2019 - db-thueringen.de
Der Hovawart gehört zu den dolichocephalen Hunderassen und zeigt ähnlich wie alle
anderen Schädeltypen spezielle Formen der Zahnanomalien. Besondere Bedeutung wird …
anderen Schädeltypen spezielle Formen der Zahnanomalien. Besondere Bedeutung wird …
[PDF][PDF] ASSOCIAÇÃO ENTRE SEQUÊNCIAS FORMADORAS DE G-QUADRUPLEXES NO INTRON 1 DOS GENES PAX9, MSX1, INHBA E BMP2 EO FENÓTIPO …
MAJ Espejo - 2017 - repositorio.unicamp.br
RESUMO A dentição dos mamíferos representa um modelo eficiente para entender como
as mudanças nas restrições do desenvolvimento podem ter participado no surgimento da …
as mudanças nas restrições do desenvolvimento podem ter participado no surgimento da …