A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. (Q34556905)

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28 December 2019

title

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

1 reference

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28 December 2019

main subject

microdeletion syndrome

1 reference

2

1 reference

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28 December 2019

Samantha J.L. Knight

5

1 reference

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28 December 2019

Frank Kooy

7

1 reference

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28 December 2019

Corrado Romano

9

1 reference

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28 December 2019

Marco Fichera

10

1 reference

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28 December 2019

Erik Sistermans

17

1 reference

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28 December 2019

Joris A Veltman

18

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19

Han G Brunner

1 reference

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Adrianus Henricus Maria Geurts van Kessel

28 December 2019

16

object named as

Ad Geurts van Kessel

1 reference

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28 December 2019

3

Rolph Pfundt

1 reference

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28 December 2019

1

David A Koolen

1 reference

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28 December 2019

4

Nicole de Leeuw

1 reference

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28 December 2019

15

Nine V Knoers

1 reference

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28 December 2019

6

Regina Regan

1 reference

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28 December 2019

13

Britt-Marie Anderlid

1 reference

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8

Edwin Reyniers

1 reference

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28 December 2019

11

Albert Schinzel

1 reference

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28 December 2019

12

Alessandra Baumer

1 reference

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28 December 2019

14

Jacqueline Schoumans

1 reference

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28 December 2019

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Bert B A de Vries

1 reference

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28 December 2019

language of work or name

English

0 references

publication date

13 August 2006

1 reference

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28 December 2019

1 reference

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28 December 2019

volume

38

1 reference

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28 December 2019

page(s)

999-1001

1 reference

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28 December 2019

issue

9

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1853

28 December 2019

exact match

0 references

cites work

Array comparative genomic hybridization and its applications in cancer

1 reference

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

A common inversion under selection in Europeans

21 January 2018

1 reference

Structural variation in the human genome

21 January 2018

1 reference

Chromosomal microdeletions: dissecting del22q11 syndrome

21 January 2018

1 reference

Williams syndrome: from genotype through to the cognitive phenotype

21 January 2018

1 reference

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

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

21 January 2018

1 reference

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

21 January 2018

1 reference

Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice.

21 January 2018

1 reference

Defects in axonal elongation and neuronal migration in mice with disrupted tau and map1b genes

21 January 2018

1 reference

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1853

1 reference

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28 December 2019

1 reference