Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q37443797)
Watch
English
An overview of mutation detection methods in genetic disorders
scientific article published on August 2013
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
retrieved
20 August 2017
title
An overview of mutation detection methods in genetic disorders
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
retrieved
20 August 2017
author
Bahareh Rabbani
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
author name string
Nejat Mahdieh
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
publication date
1 August 2013
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
retrieved
20 August 2017
published in
Iranian journal of pediatrics
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
volume
23
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
page(s)
375-388
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
cites work
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
DNA variations in human and medical genetics: 25 years of my experience
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
New applications and developments in the use of multiplex ligation-dependent probe amplification
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
PCR-SSCP: a method for the molecular analysis of genetic diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Human female meiosis: what makes a good egg go bad?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Next-generation sequencing transforms today's biology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Achondroplasia: from genotype to phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Mechanisms of disease: genetic causes of familial hypercholesterolemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Molecular genetics of Marfan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Finishing the euchromatic sequence of the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Mechanisms of non-Mendelian inheritance in genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Fluorescence in situ hybridization: past, present and future
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Comparative genomic hybridization: practical guidelines
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
A review of DNA sequencing techniques.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Paracentric inversions in man.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Exome sequencing: dual role as a discovery and diagnostic tool
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Comparative genomic hybridization: an overview
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
23 August 2017
Genome screening by comparative genomic hybridization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
28 September 2017
Parental age-related aneuploidy in human germ cells and offspring: a story of past and present
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
28 September 2017
Applications of heteroduplex analysis for mutation detection in disease genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
28 September 2017
Mutation detection by denaturing gradient gel electrophoresis (DGGE).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
28 September 2017
Characterization of minor bands of STR amplification reaction of FVIII gene by PCR cloning.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
26 June 2018
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Dicentric Y chromosome in an azoospermic male.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
2 September 2018
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883366
retrieved
3 December 2018
Oral squamous cell carcinomas are characterized by a rather uniform pattern of genomic imbalances detected by comparative genomic hybridisation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24427490
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Image analysis in comparative genomic hybridization
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24427490
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24427490
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24427490
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
3883366
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
PubMed publication ID
24427490
1 reference
stated in
Europe PubMed Central
PMC publication ID
3883366
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24427490%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit