(Q35889018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

main subject

spinal muscular atrophy

1 reference

1 reference

L M Brzustowicz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

B A Allitto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

D Matseoane

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

R Theve

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

L Michaud

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

S Chatkupt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

E Sugarman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

G K Penchaszadeh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

L Suslak

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

M R Koenigsberger

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 March 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

482-488

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

Anchored reference loci for comparative genome mapping in mammals.

25 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=1918127

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

The genetic identity of acute infantile spinal muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

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=1918127

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=1918127

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=1918127

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=1918127

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Genomic imprinting: review and relevance to human diseases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Two microsatellite polymorphisms at the D5S39 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=1918127

Linkage disequilibrium between two highly polymorphic microsatellites.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Maternal uniparental disomy for chromosome 14

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

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=1918127

Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

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=1918127

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Uniparental disomy: a novel mechanism for thalassemia major

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918127

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

11 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1 reference

12 December 2020

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

12 December 2020

Mapping of human chromosome 5 microsatellite DNA polymorphisms

1 reference

12 December 2020

Linkage analysis of spinal muscular atrophy

1 reference

12 December 2020

Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation

1 reference

12 December 2020

Uniparental disomy with normal phenotype

1 reference

12 December 2020

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116617%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference