(Q68325740)

English

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

scientific article published on 01 November 1991

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scholarly article

1 reference

Europe PubMed Central

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23 September 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683645%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

chromosome abnormality

1 reference

Europe PubMed Central

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28 October 2022

genetic recombination

1 reference

Europe PubMed Central

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28 October 2022

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

author name string

C. A. Gregory

1

1 reference

Europe PubMed Central

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28 October 2022

J. Schwartz

2

1 reference

Europe PubMed Central

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28 October 2022

A. J. Kirkilionis

3

1 reference

Europe PubMed Central

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28 October 2022

N. Rudd

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683645

28 October 2022

J. L. Hamerton

5

1 reference

Europe PubMed Central

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28 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

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28 October 2022

publication date

1 November 1991

1 reference

Europe PubMed Central

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23 September 2019

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00204927.pdf

Portable Document Format

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

http://link.springer.com/article/10.1007/BF00204927/fulltext.html

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

http://link.springer.com/content/pdf/10.1007/BF00204927

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683645%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

88

1 reference

Europe PubMed Central

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23 September 2019

1

1 reference

Europe PubMed Central

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23 September 2019

42-48

1 reference

Europe PubMed Central

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23 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00204927

0 references

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clonal analysis of human colorectal tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitotic recombination of chromosome 17 in astrocytomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CYTOLOGICAL EVIDENCE FOR CROSSING-OVER IN VITRO IN HUMAN LYMPHOID CELLS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of heterozygosity on chromosomes 3, 13, and 17 in small-cell carcinoma and on chromosome 3 in adenocarcinoma of the lung

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of cDNAs encoding the human bombesin-like peptide neuromedin B. Chromosomal localization and comparison to cDNAs encoding its amphibian homolog ranatensin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homologous recombination in mammalian somatic cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of homozygosity for chromosome 11p markers in Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of a Harvey ras allele in sporadic Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is Angelman syndrome an alternate result of del(15)(q11q13)?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular evidence that homologous recombination occurs in proliferating human somatic cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a panel of highly variable minisatellites cloned from human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental disomy as a mechanism for human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for mitotic recombination in Wei/+ heterozygous mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cDNA of the human neuromedin B gene (NMB) mapped to 15q11-qter recognizes an Xbal RFLP

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo somatic mutations in human lymphocytes frequently result from major gene alterations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for prolactin-inducible protein (PIP), uniquely expressed in exocrine organs, maps to chromosome 7

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double minute chromosomes can be produced from precursors derived from a chromosomal deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patient with 13 Chromosome Deletion: Evidence That the Retinoblastoma Gene Is a Recessive Cancer Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/1683645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour

14

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

Cytogenetics and Cell Genetics

32

37

531

author name string

B Martinville de

publication date

1984

1 reference

10.1007/BF00204927

https://api.crossref.org/works/10.1007/BF00204927

28 October 2022

Identifiers

10.1007/BF00204927

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683645%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683645%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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