The mechanisms involved in formation of deletions and duplications of 15q11-q13. (Q33680198)

28 July 2017

title

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

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28 July 2017

Robinson WP

1

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28 July 2017

Dutly F

2

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28 July 2017

Nicholls RD

3

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28 July 2017

Bernasconi F

4

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28 July 2017

Peñaherrera M

5

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28 July 2017

Michaelis RC

6

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28 July 2017

Abeliovich D

7

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28 July 2017

Schinzel AA

8

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28 July 2017

language of work or name

English

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publication date

1 February 1998

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

35

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28 July 2017

issue

2

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28 July 2017

page(s)

130-136

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

28 July 2017

cites work

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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.

14 July 2018

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Yeast genetics and the fall of the classical view of meiosis.

14 July 2018

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Nondisjunction of chromosome 15: origin and recombination

14 July 2018

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

A somatic origin of homologous Robertsonian translocations and isochromosomes.

14 July 2018

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Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

14 July 2018

1 reference

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New insights reveal complex mechanisms involved in genomic imprinting.

14 July 2018

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Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome

14 July 2018

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

14 July 2018

1 reference

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Intrachromosomal triplication of 15q11-q13.

14 July 2018

1 reference

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Separation anxiety: the etiology of nondisjunction in flies and people.

14 July 2018

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Molecular and clinical study of 61 Angelman syndrome patients

14 July 2018

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

14 July 2018

1 reference

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Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

14 July 2018

1 reference

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

14 July 2018

1 reference

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Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

14 July 2018

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Parental age, and how extra isochromosomes (secondary trisomy) arise

14 July 2018

1 reference

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Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

14 July 2018

1 reference

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Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

14 July 2018

1 reference

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

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

14 July 2018

1 reference

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Prader-Willi syndrome: current understanding of cause and diagnosis

14 July 2018

1 reference

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The frequency of meiotic recombination in yeast is independent of the number and position of homologous donor sequences: implications for chromosome pairing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

14 July 2018

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051217

Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization

14 July 2018

1 reference

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

30 October 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

30 October 2018

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Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

30 October 2018

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Homologous association of oppositely imprinted chromosomal domains

30 October 2018

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12 December 2020

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

1 reference

12 December 2020

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

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12 December 2020

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

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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

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

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

Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population

1 reference

12 December 2020

Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.2.130

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28 July 2017

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28 July 2017

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