(Q34142703)

31 July 2017

0 references

Rare etiology of autosomal recessive disease in a child with noncarrier parents (English)

1 reference

autosomal recessive disease

31 July 2017

main subject

1 reference

R V Lebo

1

1 reference

31 July 2017

L R Shapiro

2

1 reference

31 July 2017

E Y Fenerci

3

1 reference

31 July 2017

J M Hoover

4

1 reference

31 July 2017

J L Chuang

5

1 reference

31 July 2017

D T Chuang

6

1 reference

31 July 2017

D F Kronn

7

1 reference

31 July 2017

language of work or name

English

0 references

publication date

27 July 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

67

1 reference

31 July 2017

issue

3

1 reference

31 July 2017

page(s)

750-754

1 reference

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Genomic imprinting: implications for human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

High genomic deleterious mutation rates in hominids

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Mutation of human short tandem repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Bloom syndrome and maternal uniparental disomy for chromosome 15.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287534

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10915611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10915611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/303042

1 reference

31 July 2017

1 reference

31 July 2017

1 reference