(Q35578481)

English

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia

scientific article published on 4 October 2010

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia (English)

1 reference

Europe PubMed Central

9 August 2017

congenital disorder

0 references

congenital diaphragmatic hernia

1 reference

based on heuristic

inferred from title

Pawel Stankiewicz

9

object named as

Pawel Stankiewicz

1 reference

Europe PubMed Central

9 August 2017

author name string

Margaret J Wat

1

1 reference

Europe PubMed Central

9 August 2017

Victoria B Enciso

2

1 reference

Europe PubMed Central

9 August 2017

Wojciech Wiszniewski

3

1 reference

Europe PubMed Central

9 August 2017

Trevor Resnick

4

1 reference

Europe PubMed Central

9 August 2017

Patricia Bader

5

1 reference

Europe PubMed Central

9 August 2017

Elizabeth R Roeder

6

1 reference

Europe PubMed Central

9 August 2017

Debra Freedenberg

7

1 reference

Europe PubMed Central

9 August 2017

Chester Brown

8

1 reference

Europe PubMed Central

9 August 2017

Sau-Wai Cheung

10

1 reference

Europe PubMed Central

9 August 2017

Daryl A Scott

11

1 reference

Europe PubMed Central

9 August 2017

language of work or name

0 references

publication date

4 October 2010

1 reference

Europe PubMed Central

9 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

9 August 2017

47

1 reference

Europe PubMed Central

9 August 2017

11

1 reference

Europe PubMed Central

9 August 2017

777-781

1 reference

Europe PubMed Central

9 August 2017

Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen-induced congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Hepatoma-derived growth factor-related protein-3 interacts with microtubules and promotes neurite outgrowth in mouse cortical neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Accumbens Homer2 overexpression facilitates alcohol-induced neuroplasticity in C57BL/6J mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Involvement of BTBD1 in mesenchymal differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Genetic factors in congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Selective modulation of some forms of schaffer collateral-CA1 synaptic plasticity in mice with a disruption of the CPEB-1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

A new member of a hepatoma-derived growth factor gene family can translocate to the nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

27 July 2018

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

26 September 2018

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

26 September 2018

Reduced extinction of hippocampal-dependent memories in CPEB knockout mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

26 September 2018

Basonuclin, a zinc finger protein associated with epithelial expansion and proliferation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3225959

26 September 2018

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20921022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diaphragm defects occur in a CDH hernia model independently of myogenesis and lung formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20921022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2009.075903

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

ResearchGate publication ID

0 references

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