Somatic gene mutation and human disease other than cancer: an update
RP Erickson - Mutation Research/Reviews in Mutation Research, 2010 - Elsevier
Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …
Cleidocranial dysplasia and RUNX2‐clinical phenotype–genotype correlation
A Jaruga, E Hordyjewska, G Kandzierski… - Clinical …, 2016 - Wiley Online Library
Runt‐related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling
skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 …
skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 …
High-Resolution Melting Analysis for Rapid Detection of KRAS, BRAF, and PIK3CA Gene Mutations in Colorectal Cancer
L Simi, N Pratesi, M Vignoli, R Sestini… - American journal of …, 2008 - academic.oup.com
High-resolution melting analysis (HRMA) provides a valid approach to efficiently detect DNA
genetic and somatic mutations. In this study, HRMA was used for the screening of 116 …
genetic and somatic mutations. In this study, HRMA was used for the screening of 116 …
Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family
A Impellizzeri, G Midulla, U Romeo… - … Journal of Dentistry, 2018 - Wiley Online Library
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in
the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by …
the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by …
[HTML][HTML] Cleidocranial dysplasia spectrum disorder
K Machol, R Mendoza-Londono, B Lee - 2017 - europepmc.org
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a
clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures …
clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures …
Effect of cleidocranial dysplasia‐related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development
DY Xuan, X Sun, YX Yan, BY Xie… - Journal of Cellular …, 2010 - Wiley Online Library
Cleidocranial dysplasia (CCD) is an autosomal‐dominant disorder caused by a lack of
function of one or more alleles of the RUNX2 gene. Mutations of the RUNX2 gene were …
function of one or more alleles of the RUNX2 gene. Mutations of the RUNX2 gene were …
[HTML][HTML] Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder
A Adhikari, S Shrestha, P Bhattarai, S Khanal… - Clinical Case …, 2022 - ncbi.nlm.nih.gov
Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with facial, dental, and
skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental …
skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental …
NF2 Mutation Screening by Denaturing High-Performance Liquid Chromatography and High-Resolution Melting Analysis
R Sestini, A Provenzano, C Bacci, C Orlando… - Genetic …, 2008 - liebertpub.com
Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in
the NF2 gene and predisposing to the development of nervous system. Identification of …
the NF2 gene and predisposing to the development of nervous system. Identification of …
Mosaic deletions of known genes explain skeletal dysplasias with high and low bone mass
Mosaicism, a state in which an individual has two or more genetically distinct populations of
cells in the body, can be difficult to detect because of either mild or atypical clinical …
cells in the body, can be difficult to detect because of either mild or atypical clinical …
[HTML][HTML] What is cleidocranial dysplasia
D Plan, F Additives - healthjade.net
Cleidocranial dysplasia also known as cleidocranial dysostosis, Marie-Sainton syndrome or
mutational dysostosis, is a genetic condition that primarily affects development of the bones …
mutational dysostosis, is a genetic condition that primarily affects development of the bones …