(Q36783665)

English

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

scientific article published on February 1993

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

A Mutirangura

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

F Greenberg

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

M G Butler

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

S Malcolm

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

R D Nicholls

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

A Chakravarti

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

D H Ledbetter

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 February 1993

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

143-151

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental paternal disomy in Angelman's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imprinting in an Angelman and Prader-Willi translocation family

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA deletion and its parental origin in Angelman syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of constitutional heterozygosity in human cancer.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphism at the human CTLA4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imprinting: review and relevance to human diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vector-Alu PCR: a rapid step in mapping cosmids and YACs

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"PCR-karyotype" of human chromosomes in somatic cell hybrids

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

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/8499903

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/8499903

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/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

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/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methods for studying recombination on chromosomes that undergo nondisjunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic studies of familial Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8499903

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/8499903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/2.2.143

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

release_sghe3cccrvh5lbrngpdseqaf54

1 reference

https://api.fatcat.wiki/v0/release/sghe3cccrvh5lbrngpdseqaf54

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8499903%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

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