(Q33682750)

English

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects

scientific article

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects (English)

1 reference

Europe PubMed Central

28 July 2017

phenylketonuria

1 reference

based on heuristic

inferred from title

author name string

L A Tyfield

1

1 reference

Europe PubMed Central

28 July 2017

J Zschocke

2

1 reference

Europe PubMed Central

28 July 2017

A Stephenson

3

1 reference

Europe PubMed Central

28 July 2017

F Cockburn

4

1 reference

Europe PubMed Central

28 July 2017

A Harvie

5

1 reference

Europe PubMed Central

28 July 2017

J L Bidwell

6

1 reference

Europe PubMed Central

28 July 2017

N A Wood

7

1 reference

Europe PubMed Central

28 July 2017

L P Hunt

8

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 November 1995

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

32

1 reference

Europe PubMed Central

28 July 2017

11

1 reference

Europe PubMed Central

28 July 2017

867-870

1 reference

Europe PubMed Central

28 July 2017

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Genetic history of phenylketonuria mutations in Italy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Molecular basis and population genetics of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Genetic analysis of treated and untreated phenylketonuria in one family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

21 June 2018

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051737

30 October 2018

Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs

1 reference

https://pubmed.ncbi.nlm.nih.gov/8592329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.11.867

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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0 references

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