(Q35195055)

English

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8102509%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8102509%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Crigler-Najjar syndrome

1 reference

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inferred from title

author name string

N Moghrabi

1

1 reference

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25 October 2019

D J Clarke

2

1 reference

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25 October 2019

B Burchell

3

1 reference

Europe PubMed Central

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25 October 2019

M Boxer

4

1 reference

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25 October 2019

language of work or name

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1 September 1993

1 reference

Europe PubMed Central

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25 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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25 October 2019

53

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25 October 2019

3

1 reference

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25 October 2019

722-729

1 reference

Europe PubMed Central

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25 October 2019

Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity

1 reference

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13 July 2018

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

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13 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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13 July 2018

Disposition in male volunteers of a subanaesthetic intravenous dose of an oil in water emulsion of 14C-propofol

1 reference

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13 July 2018

Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

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13 July 2018

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

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13 July 2018

UDP-glucuronosyltransferases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

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

1 reference

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13 July 2018

Chromosomal mapping of a human phenol UDP-glucuronosyltransferase, GNT1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Expression of chimeric cDNAs in cell culture defines a region of UDP glucuronosyltransferase involved in substrate selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Cloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

The UDP glucuronosyltransferase gene superfamily: suggested nomenclature based on evolutionary divergence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Mechanisms of inherited deficiencies of multiple UDP‐glucuronosyltransferase isoforms in two patients with Crigler‐Najjar syndrome, type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

Characterisation of a human bilirubin UDP-glucuronosyltransferase stably expressed in hamster lung fibroblast cell cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

13 July 2018

A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682423

27 September 2018

Mutagenic deamination of cytosine residues in DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8102509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-performance liquid chromatographic analysis of bile pigments as their native tetrapyrroles and as their dipyrrolic azosulfanilate derivatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/8102509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substrate specificities of two stably expressed human liver UDP-glucuronosyltransferases of the UGT1 gene family

1 reference

https://pubmed.ncbi.nlm.nih.gov/8102509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital familial nonhemolytic jaundice with kernicterus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8102509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective induction of phenol glucuronidation by 3-methylcholanthrene in Gunn rats is due to the absence of a specific UDP-glucuronosyltransferase isoenzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/8102509

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8102509%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8102509%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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