(Q34389945)

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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Europe PubMed Central

PubMed publication ID

1 August 2017

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints (English)

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Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

J M Amos-Landgraf

1

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Europe PubMed Central

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1 August 2017

Y Ji

2

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Europe PubMed Central

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1 August 2017

W Gottlieb

3

1 reference

Europe PubMed Central

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1 August 2017

T Depinet

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

A E Wandstrat

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

S B Cassidy

6

1 reference

Europe PubMed Central

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1 August 2017

D J Driscoll

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

P K Rogan

8

1 reference

Europe PubMed Central

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1 August 2017

S Schwartz

9

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Europe PubMed Central

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1 August 2017

R D Nicholls

10

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1 August 2017

language of work or name

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publication date

1 August 1999

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Europe PubMed Central

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1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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1 August 2017

65

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Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

370-386

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript 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=1377936

6 July 2018

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

A model system to study genomic imprinting of human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Masquerading repeats: paralogous pitfalls of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Mutation analysis of UBE3A in Angelman syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

The Ig mutator is dependent on the presence, position, and orientation of the large intron enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Recombination hot spots and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions 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=1377936

6 July 2018

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Immunoglobulin class switching

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Visual mapping by fiber-FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Intrachromosomal triplication of 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Inv dup(15) supernumerary marker chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

A random-walk/giant-loop model for interphase chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Transcription enhances intrachromosomal homologous recombination in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

6 July 2018

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

27 October 2018

Imprinting in Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

27 October 2018

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

27 October 2018

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

27 October 2018

Reversion of the mouse pink-eyed unstable mutation induced by low doses of x-rays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377936

27 October 2018

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic and molecular analysis in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meiosis-induced double-strand break sites determined by yeast chromatin structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sensitive and dependable assay for distinguishing hamster and human X-linked steroid sulfatase activity in somatic cell hybrids

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination-stimulating sequences in yeast ribosomal DNA correspond to sequences regulating transcription by RNA polymerase I

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal hydrocarbon exposure in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An initiation site for meiotic gene conversion in the yeast Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental exposure to hydrocarbons in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/10417280

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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