Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases (Q46740035)

24 December 2017

title

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

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24 December 2017

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Crigler-Najjar syndrome

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P Labrune

1

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A Myara

2

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M Hadchouel

3

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F Ronchi

4

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O Bernard

5

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F Trivin

6

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N R Chowdhury

7

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J R Chowdhury

8

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A Munnich

9

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M Odièvre

10

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publication date

1 December 1994

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24 December 2017

published in

Human Genetics

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24 December 2017

volume

94

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issue

6

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24 December 2017

page(s)

693-697

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24 December 2017

New developments in glucuronidation research: report of a workshop on "glucuronidation, its role in health and disease"

cites work

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12 December 2020

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

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12 December 2020

Congenital familial nonhemolytic jaundice with kernicterus

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12 December 2020

UDP-glucuronosyltransferase activities. Guidelines for consistent interim terminology and assay conditions.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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12 December 2020

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

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12 December 2020

Genetic defect of bilirubin UDP-glucuronosyltransferase in the hyperbilirubinemic Gunn rat

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12 December 2020

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

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12 December 2020

A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase

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12 December 2020

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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12 December 2020

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

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12 December 2020

Crigler-Najjar type II disease inheritance: a family study

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12 December 2020

Molecular basis of multiple UDP-glucuronosyltransferase isoenzyme deficiencies in the hyperbilirubinemic rat (Gunn rat)

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12 December 2020

Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease

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12 December 2020

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

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12 December 2020

Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37

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12 December 2020

Molecular basis for the lack of bilirubin-specific and 3-methylcholanthrene-inducible UDP-glucuronosyltransferase activities in Gunn rats. The two isoforms are encoded by distinct mRNA species that share an identical single base deletion

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12 December 2020

Diagnosis of kernicterus in the neonatal period

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12 December 2020

Case of congenital nonobstructive, nonhaemolytic jaundice. Successful long-term phototherapy at home

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12 December 2020

Determination of bilirubin UDP-glucuronyl transferase activity in needle-biopsy specimens of human liver

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12 December 2020

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

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12 December 2020

Unconjugated Bilirubin and an Increased Proportion of Bilirubin Monoconjugates in the Bile of Patients with Gilbert's Syndrome and Crigler-Najjar Disease

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12 December 2020

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

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12 December 2020

Mechanism of the lack of induction of UDP-glucuronosyltransferase activity in Gunn rats by 3-methylcholanthrene. Identification of a truncated enzyme

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12 December 2020

Orthotopic liver transplantation for type I Crigler-Najjar syndrome

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Clinical conference. Crigler-Najjar syndrome (type I) in an adult male

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12 December 2020

The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes

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12 December 2020

Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro

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12 December 2020

The CpG dinucleotide and human genetic disease

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12 December 2020

Identifiers

DOI

10.1007/BF00206965

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24 December 2017

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24 December 2017