(Q28138231)

ORCID Public Data File 2021

author name string

R L Glaser

1

0 references

S A Boyadjiev

3

0 references

A K Tran

4

0 references

A A Zachary

5

0 references

L Van Maldergem

6

0 references

D Johnson

7

0 references

S Walsh

8

0 references

M Oldridge

9

0 references

S A Wall

10

0 references

A O Wilkie

11

0 references

E W Jabs

American Journal of Human Genetics

12

0 references

language of work or name

English

0 references

publication date

March 2000

0 references

published in

0 references

volume

66

0 references

issue

3

0 references

page(s)

768-77

0 references

describes a project that uses

Bayes' theorem

1 reference

Europe PubMed Central

18 June 2022

https://europepmc.org/article/PMC/1288162

inferred from PubMed Central ID database lookup

cites work

Parental age and mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Parent-of-origin effects in multiple endocrine neoplasia type 2B

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Spontaneous mutation and parental age in humans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Older paternal age and fresh gene mutation: Data on additional disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Clinical spectrum of fibroblast growth factor receptor mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Exclusive paternal origin of new mutations in Apert syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Achondroplasia is defined by recurrent G380R mutations of FGFR3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Fluorescence detection in automated DNA sequence analysis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

American paternal age data for selected years from 1876 to 1981.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

On the parental origin of de novo mutation in man.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Spermatogenesis in man: an estimate of its duration.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Clinical features of Crouzon's syndrome patients with and without a positive family history of Crouzon's syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288162

Spontaneous mutation in man

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712195

12 December 2020

inferred from PubMed ID database lookup

Highly discriminating heptaplex short tandem repeat PCR system for forensic identification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712195

12 December 2020

inferred from PubMed ID database lookup

Sex identification by polymerase chain reaction using X-Y homologous primer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712195

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302831

1 reference

1 reference

1 reference

PubMed publication ID

10712195

1 reference