(Q41438381)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

C De Andreis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S Pariani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M G Grimoldi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A Molinari

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M Buscaglia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

G Simoni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

publication date

1 October 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

355-358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927328%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00201592

28 October 2019

exact match

0 references

cites work

Dinucleotide repeat polymorphism at the D14S43 locus

1 reference

12 December 2020

Maternal uniparental disomy for chromosome 14

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Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

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Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

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Uniparental disomy: a novel mechanism for thalassemia major

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12 December 2020

Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms

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12 December 2020

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

1 reference

12 December 2020

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1 reference

12 December 2020

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

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12 December 2020

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

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Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Uniparental disomy as a mechanism for human genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

1 reference

12 December 2020

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event

1 reference

12 December 2020

Uniparental disomy for chromosome 16 in humans.

1 reference

12 December 2020

Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes

1 reference

12 December 2020

Human collagen, type II, alpha 1, (COL2A1) gene: VNTR polymorphism detected by gene amplification

1 reference

12 December 2020

Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome

1 reference

12 December 2020

Mapping of human chromosome 5 microsatellite DNA polymorphisms

1 reference

12 December 2020

Uniparental paternal disomy in Angelman's syndrome

1 reference

12 December 2020

Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region

1 reference

12 December 2020

Uniparental isodisomy due to duplication of chromosome 21 occuring in somatic cells monosomic for chromosome 21

1 reference

12 December 2020