(Q68184078)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

genetic carrier screening

16 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

1 reference

16 October 2022

author name string

S. Marcus

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

A. M. Steen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

B. Andersson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

B. Lambert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

U. Kristoffersson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

U. Francke

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1618489

16 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1618489

16 October 2022

publication date

1 June 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

22 September 2019

http://link.springer.com/content/pdf/10.1007/BF00194310.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00194310/fulltext.html

16 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00194310

16 October 2022

1 reference

16 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

395-400

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00194310

22 September 2019

exact match

0 references

cites work

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese

1 reference

12 December 2020

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis

1 reference

12 December 2020

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

1 reference

12 December 2020

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

12 December 2020

Levels of hypoxanthine phosphoribosyltransferase RNA in human cells

1 reference

12 December 2020

The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

1 reference

12 December 2020

Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences

1 reference

12 December 2020

A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling

1 reference

12 December 2020

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)

1 reference

12 December 2020

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

12 December 2020

Molecular analysis of mutation in the human gene for hypoxanthine phosphoribosyltransferase

1 reference

12 December 2020

Molecular analysis of a female Lesch-Nyhan patient

1 reference

12 December 2020

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase

1 reference

12 December 2020

Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells

1 reference

12 December 2020

Automated DNA sequencing of the human HPRT locus

1 reference

12 December 2020

Mutations causing defective splicing in the human hprt gene

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

First-trimester diagnosis of Lesch-Nyhan syndrome

1 reference

12 December 2020

Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts

1 reference

12 December 2020

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects

1 reference

12 December 2020

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

12 December 2020

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1 reference

12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

12 December 2020

Expression of the hypoxanthine phosphoribosyl transferase gene in resting and growth-stimulated human lymphocytes

1 reference

12 December 2020

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00194310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1618489%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference