Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I (Q33678402)

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1 November 2019

title

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I (English)

1 reference

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1 November 2019

main subject

Crigler-Najjar syndrome

1 reference

3

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1 November 2019

author name string

M C Rosatelli

1

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1 November 2019

A Meloni

2

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1 November 2019

L Saba

4

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1 November 2019

G Crisponi

5

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1 November 2019

M G Clemente

6

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1 November 2019

G Meloni

7

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1 November 2019

M T Piga

8

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1 November 2019

A Cao

9

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1 November 2019

language of work or name

English

0 references

publication date

1 February 1997

1 reference

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Journal of Medical Genetics

1 November 2019

published in

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volume

34

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1 November 2019

issue

2

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page(s)

122-125

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Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050864

A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9039987

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital familial nonhemolytic jaundice with kernicterus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9039987

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The genetic basis of Gilbert's syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9039987

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.2.122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039987%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039987%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference