(Q43105109)

14 November 2017

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome (English)

1 reference

14 November 2017

R Carrozzo

1

1 reference

14 November 2017

E Rossi

2

1 reference

14 November 2017

S L Christian

3

1 reference

14 November 2017

K Kittikamron

4

1 reference

14 November 2017

C Livieri

5

1 reference

14 November 2017

A Corrias

6

1 reference

14 November 2017

L Pucci

7

1 reference

14 November 2017

A Fois

8

1 reference

14 November 2017

P Simi

9

1 reference

14 November 2017

L Bosio

10

1 reference

14 November 2017

L Beccaria

11

1 reference

14 November 2017

O Zuffardi

12

1 reference

14 November 2017

D H Ledbetter

13

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 July 1997

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

61

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14 November 2017

228-231

1 reference

14 November 2017

1

1 reference

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

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

An STS-based map of the human genome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Molecular genetics of inherited variation in human color vision

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715856

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

15 August 2018

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/513907

1 reference

14 November 2017

1 reference

14 November 2017

1 reference