Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. (Q45178769)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Christian Poüs

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Vincent Gajdos

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Frédéric Parisot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Liliane Capel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Azzedine Aboura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Alain Lachaux

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Gérard Tachdjian

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Philippe Labrune

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

1 March 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

6 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

278-282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15586176%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201342

6 January 2020

exact match

0 references

cites work

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

A new genetic concept: uniparental disomy and its potential effect, isodisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

7 January 2021

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

7 January 2021

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

7 January 2021

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

7 January 2021

Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201342

7 January 2021