(Q57108804)

English

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

article published in 2007

In more languages

Statements

scholarly article

0 references

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE (English)

0 references

Mohammed A Aldahmesh

object named as

Mohammed A. Aldahmesh

5

0 references

object named as

Sadaf Farooqi

12

0 references

Avan Aihie Sayer

object named as

Avan Aihie Sayer

7

0 references

Deborah A. Lawlor

object named as

Debbie A. Lawlor

8

0 references

object named as

Cyrus Cooper

13

0 references

George Davey Smith

object named as

George Davey Smith

10

0 references

Stephen O'Rahilly

object named as

Stephen O'Rahilly

11

0 references

Emmanuel Spanakis

object named as

Emmanuel Spanakis

2

0 references

9

object named as

Shah Ebrahim

0 references

author name string

Khalid K. Alharbi

1

0 references

Karen Tan

3

0 references

Matt J. Smith

4

0 references

Sandra D. O'Dell

6

0 references

David I.W. Phillips

14

0 references

Ian N.M. Day

15

0 references

publication date

March 2007

0 references

0 references

28

0 references

3

0 references

294-302

0 references

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Relation of fetal and infant growth to plasma fibrinogen and factor VII concentrations in adult life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Anatomy and regulation of the central melanocortin system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation detection and mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Paucimorphic Alleles versus Polymorphic Alleles and Rare Mutations in Disease Causation: Theory, Observation and Detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of melanocortinergic neurons in feeding and the agouti obesity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Melanocortin-4 receptor gene variant I103 is negatively associated with obesity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and functional analysis of novel human melanocortin-4 receptor variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Melanocortin 4 Receptor Sequence Variations Are Seldom a Cause of Human Obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis Cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between offspring birth weight and atherosclerosis in middle aged men and women: British Regional Heart Study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Control of eukaryotic protein synthesis by upstream open reading frames in the 5'-untranslated region of an mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

SNP genotyping by combination of 192-well MADGE, ARMS and computerized gel image analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

UTRdb and UTRsite: specialized databases of sequences and functional elements of 5' and 3' untranslated regions of eukaryotic mRNAs. Update 2002.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Cellular internal ribosome entry segments: structures, trans-acting factors and regulation of gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Cohort profile: the Hertfordshire cohort study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

A frameshift mutation in human MC4R is associated with a dominant form of obesity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

A frameshift mutation in MC4R associated with dominantly inherited human obesity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20404

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20404

0 references

PubMed publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q57108804&oldid=1875984532"