(Q35889456)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

0 references

0 references

1 reference

1 reference

4

1 reference

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29 October 2019

2

Holmberg C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Albert de la Chapelle

series ordinal

3

object named as

de la Chapelle A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

Höglund P

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 October 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

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29 October 2019

volume

55

1 reference

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29 October 2019

page(s)

747-752

1 reference

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29 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

Uniparental disomy for chromosome 16 in humans.

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Nondisjunction of chromosome 15: origin and recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Maternal uniparental disomy 22 has no impact on the phenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

A genetic linkage map of the mouse: current applications and future prospects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Differential activity of maternally and paternally derived chromosome regions in mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Congenital chloride diarrhoea

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Uniparental disomy as a mechanism for human genetic disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Variation of growth in height and weight of children. II. After infancy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Frequency and distribution of aneuploidy in human female gametes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Genomic imprinting and the strange case of the insulin-like growth factor II receptor

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Uniparental paternal disomy in Angelman's syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

A second-generation linkage map of the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12-21.1

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

An evaluation of five indexes of relative body weight for use with children.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918292

Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families

14 November 2018

1 reference

12 December 2020

Chromosomes of human sperm: variability among normal individuals

1 reference

12 December 2020

Autosomal and X-chromosome imprinting

1 reference

12 December 2020

Genome imprinting and development in the mouse

1 reference

12 December 2020

Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set

1 reference

12 December 2020

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

1 reference

12 December 2020

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

12 December 2020

Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942853%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference