(Q34326690)

English

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion (English)

1 reference

Europe PubMed Central

1 August 2017

precocious puberty

1 reference

based on heuristic

inferred from title

7

object named as

Vidar Martin Steen

1 reference

Europe PubMed Central

1 August 2017

author name string

Helle Lybaek

1

1 reference

Europe PubMed Central

1 August 2017

Karen Helene Ørstavik

2

1 reference

Europe PubMed Central

1 August 2017

Trine Prescott

3

1 reference

Europe PubMed Central

1 August 2017

Randi Hovland

4

1 reference

Europe PubMed Central

1 August 2017

Harald Breilid

5

1 reference

Europe PubMed Central

1 August 2017

Christine Stansberg

6

1 reference

Europe PubMed Central

1 August 2017

Gunnar Houge

8

1 reference

Europe PubMed Central

1 August 2017

publication date

21 January 2009

1 reference

Europe PubMed Central

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

17

1 reference

Europe PubMed Central

1 August 2017

7

1 reference

Europe PubMed Central

1 August 2017

904-910

1 reference

Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.261

0 references

A GPR54-activating mutation in a patient with central precocious puberty.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Rho-linked genes and neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Gene expression profiles in rat brain disclose CNS signature genes and regional patterns of functional specialisation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Rho GTPases, dendritic structure, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Mutations in NR4A2 associated with familial Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Microdissection of chromosome 2--between-arm intrachromosomal insertion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

Intrachromosomal insertions: a case report and a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

6 July 2018

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

27 October 2018

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

27 October 2018

Adult mice with reduced Nurr1 expression: an animal model for schizophrenia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

27 October 2018

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986486

27 October 2018

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19156171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20

1 reference

https://pubmed.ncbi.nlm.nih.gov/19156171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.261

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

0 references

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