(Q48085036)

8 February 2018

title

Genome structural variation and sporadic disease traits (English)

1 reference

8 February 2018

1

James R Lupski

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8 February 2018

language of work or name

English

0 references

publication date

1 September 2006

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

38

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8 February 2018

issue

9

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8 February 2018

page(s)

974-976

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8 February 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

A common inversion under selection in Europeans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

inferred from DOI database lookup

7 January 2021

based on heuristic

The tau H2 haplotype is almost exclusively Caucasian in origin

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

inferred from DOI database lookup

7 January 2021

based on heuristic

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0906-974

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG0906-974

1 reference

8 February 2018

1 reference

8 February 2018