(Q35643492)

9 August 2017

title

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients (English)

1 reference

9 August 2017

1 reference

1 reference

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18 June 2024

author name string

S. L. Christian

1

1 reference

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18 June 2024

W. P. Robinson

2

1 reference

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18 June 2024

B. Huang

3

1 reference

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18 June 2024

A. Mutirangura

4

1 reference

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18 June 2024

M. R. Line

5

1 reference

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18 June 2024

M. Nakao

6

1 reference

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18 June 2024

U. Surti

7

1 reference

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18 June 2024

A. Chakravarti

8

1 reference

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18 June 2024

D. H. Ledbetter

9

1 reference

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18 June 2024

language of work or name

English

0 references

publication date

1 July 1995

1 reference

full work available at URL

9 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611294/pdf/?tool=EBI

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7611294

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611294/?tool=EBI

18 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7611294

https://europepmc.org/articles/PMC1801233

18 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7611294

https://europepmc.org/articles/PMC1801233?pdf=render

18 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7611294

American Journal of Human Genetics

18 June 2024

published in

1 reference

9 August 2017

volume

57

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9 August 2017

issue

1

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9 August 2017

page(s)

40-48

1 reference

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

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Clinical and molecular analysis of five inv dup(15) patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Recent translocation of variable and diversity segments of the human immunoglobulin heavy chain from chromosome 14 to chromosomes 15 and 16.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Intrachromosomal triplication of 15q11-q13.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Inv dup(15) supernumerary marker chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Molecular and clinical study of 61 Angelman syndrome patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Duplication of proximal 15q as a cause of Prader-Willi syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Prader-Willi syndrome: current understanding of cause and diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801233

Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures

25 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

12 December 2020

Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas

1 reference

12 December 2020

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

1 reference

12 December 2020

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

1 reference

12 December 2020

Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination

1 reference

12 December 2020

Cytogenetic and molecular analysis in Angelman syndrome

1 reference

12 December 2020

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

12 December 2020

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb

1 reference

12 December 2020

European Gene Mapping Project (EUROGEM): genetic maps based on the CEPH reference families

1 reference

12 December 2020

Identifiers

PMC publication ID

1801233

1 reference

9 August 2017

1 reference