(Q28206110)

The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans

22 April 2017

1 reference

Paternal age and the risk of congenital heart defects

22 April 2017

1 reference

Characterization of single-nucleotide polymorphisms in coding regions of human genes

22 April 2017

1 reference

Efficiency of truncation selection

22 April 2017

1 reference

Parental age and mutation

22 April 2017

1 reference

7 January 2021

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

1 reference

7 January 2021

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

1 reference

7 January 2021

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

7 January 2021

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

1 reference

7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

7 January 2021

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B

1 reference

7 January 2021

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

1 reference

7 January 2021

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

1 reference

7 January 2021

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

1 reference

7 January 2021

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

7 January 2021

Wilms' tumour and parental age: a report from the National Wilms' Tumour Study

1 reference

7 January 2021

Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

1 reference

7 January 2021

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

1 reference

7 January 2021

Parental age at child's birth and son's risk of prostate cancer. The Framingham Study.

1 reference

7 January 2021

CHARGE syndrome: report of 47 cases and review

1 reference

7 January 2021

Parental age, genetic mutation, and cerebral palsy

1 reference

7 January 2021

Paternal age is a risk factor for Alzheimer disease in the absence of a major gene.

1 reference

7 January 2021

Preferential loss of the paternal alleles in the 18q- syndrome

1 reference

7 January 2021

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

1 reference

7 January 2021

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome

1 reference

7 January 2021

Trinucleotide repeat length instability and age of onset in Huntington's disease

1 reference

7 January 2021

Heterogeneous mutation processes in human microsatellite DNA sequences

1 reference

7 January 2021

The direction of microsatellite mutations is dependent upon allele length

1 reference

7 January 2021

High genomic deleterious mutation rates in hominids

1 reference

7 January 2021

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

1 reference

7 January 2021

How to count ... human genes

1 reference

7 January 2021

The high spontaneous mutation rate: is it a health risk?

1 reference

7 January 2021

Spontaneous mutation in man.

1 reference

7 January 2021

Mutation frequency in human blood cells increases with age

1 reference

7 January 2021

Identifiers

DOI

10.1038/35049558

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

323177

1018255526

0 references

Fatcat ID

release_z6luxbfy5jaijdjfgn2cqhim5y

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/z6luxbfy5jaijdjfgn2cqhim5y

24 November 2022

mapped directly with Wikidata item

323177

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference