(Q47609493)

4 February 2018

title

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

1 reference

4 February 2018

Trifunctional protein deficiency

main subject

maternal health

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6

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4 February 2018

Jonathan L Haines

4

object named as

Jonathan Haines

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4 February 2018

Ute Spiekerkoetter

1

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4 February 2018

Angela Eeds

2

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4 February 2018

Zou Yue

3

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4 February 2018

Arnold W Strauss

5

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4 February 2018

publication date

1 December 2002

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4 February 2018

published in

Human Mutation

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4 February 2018

volume

20

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4 February 2018

issue

6

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4 February 2018

page(s)

447-451

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4 February 2018

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Estimation of nonpaternity in the Mexican population of Nuevo Leon: a validation study with blood group markers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Uniparental disomies in unselected populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

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/10.1002%2FHUMU.10142

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/10.1002%2FHUMU.10142

7 January 2021

Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Estimating the frequency of nonpaternity in Switzerland.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

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/10.1002%2FHUMU.10142

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10142

7 January 2021

Identifiers

DOI

10.1002/HUMU.10142

1 reference

4 February 2018

1 reference

4 February 2018