The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect (Q34380582)

1 August 2017

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect (English)

1 reference

1 August 2017

5

Brenda Eskenazi

0 references

author name string

Irene Tiemann-Boege

1

1 reference

1 August 2017

William Navidi

2

1 reference

1 August 2017

Raji Grewal

3

1 reference

1 August 2017

Dan Cohn

4

1 reference

1 August 2017

Andrew J Wyrobek

6

1 reference

1 August 2017

Norman Arnheim

7

1 reference

1 August 2017

language of work or name

English

0 references

publication date

23 October 2002

1 reference

Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

1 reference

1 August 2017

99

1 reference

1 August 2017

14952-14957

1 reference

1 August 2017

23

1 reference

Achondroplasia: an account of the condition in Northern Ireland

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Strong male-driven evolution of DNA sequences in humans and apes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

The origins, patterns and implications of human spontaneous mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Aging of the male reproductive system.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Estimate of the mutation rate per nucleotide in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Discrete cell- and stage-specific localisation of fibroblast growth factors and receptor expression during testis development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

The use of modified primers to eliminate cycle sequencing artifacts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Mechanisms of mutation induction in germ cells of the mouse as assessed by the specific locus test

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Mutation frequency declines during spermatogenesis in young mice but increases in old mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Craniosynostosis: genes and mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Exclusive paternal origin of new mutations in Apert syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Achondroplasia is defined by recurrent G380R mutations of FGFR3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Achondroplasia--a genetic and statistical survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Spontaneous mutation and parental age in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

A Ligase-Mediated Gene Detection Technique

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Birth prevalence rates of skeletal dysplasias.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

A set of lacZ mutations in Escherichia coli that allow rapid detection of each of the six base substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Cloning, overexpression and nucleotide sequence of a thermostable DNA ligase-encoding gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

How important is DNA replication for mutagenesis?

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.232568699

Sex biases in the mutation rate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.232568699

A single highly mutable catalytic site amino acid is critical for DNA polymerase fidelity

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.232568699

Germline and somatic mosaicism in achondroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.232568699

Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.232568699

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

2 references

https://api.crossref.org/works/10.1073%2FPNAS.232568699

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137526

Spontaneous mutation in man

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12397172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12397172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.232568699

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference