(Q34386278)

English

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Angelman syndrome

1 reference

based on heuristic

inferred from title

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Markus M Nöthen

10

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Buiting K

1

1 reference

Europe PubMed Central

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12 November 2019

Dittrich B

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Gross S

3

1 reference

Europe PubMed Central

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12 November 2019

Lich C

4

1 reference

Europe PubMed Central

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12 November 2019

Färber C

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Buchholz T

6

1 reference

Europe PubMed Central

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12 November 2019

Smith E

7

1 reference

Europe PubMed Central

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12 November 2019

Bürger J

9

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12 November 2019

Barth-Witte U

11

1 reference

Europe PubMed Central

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12 November 2019

Janssen B

12

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Abeliovich D

13

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Lerer I

14

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

van den Ouweland AM

15

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Halley DJ

16

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Schrander-Stumpel C

17

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Smeets H

18

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Meinecke P

19

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Malcolm S

20

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Gardner A

21

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Lalande M

22

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Nicholls RD

23

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Friend K

24

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Schulze A

25

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Matthijs G

26

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Kokkonen H

27

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Hilbert P

28

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Van Maldergem L

29

1 reference

Europe PubMed Central

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12 November 2019

Glover G

30

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Carbonell P

31

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Willems P

32

1 reference

Europe PubMed Central

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12 November 2019

Gillessen-Kaesbach G

33

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Horsthemke B

34

1 reference

Europe PubMed Central

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12 November 2019

language of work or name

0 references

publication date

1 July 1998

1 reference

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12 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

63

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

170-180

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Epigenotype switching of imprintable loci in embryonic germ cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Methylation-specific PCR simplifies imprinting analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Parental imprinting and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Linkage analysis in familial Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Tetranucleotide repeat polymorphism at the human c-fes/fps proto-oncogene (FES)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

6 July 2018

Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

27 October 2018

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

27 October 2018

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

27 October 2018

Angelman syndrome in an inbred family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377255

27 October 2018

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imprinting moves to the centre

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A familial deletion in the Prader-Willi syndrome region including the imprinting control region

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634532%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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