(Q36493270)

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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

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scholarly article

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Europe PubMed Central

14 August 2017

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. (English)

1 reference

Europe PubMed Central

14 August 2017

congenital disorder

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congenital diaphragmatic hernia

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based on heuristic

inferred from title

7

object named as

Gary M Shaw

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Europe PubMed Central

14 August 2017

Len A. Pennacchio

10

object named as

Len A Pennacchio

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Europe PubMed Central

14 August 2017

author name string

Anne M Slavotinek

1

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Europe PubMed Central

14 August 2017

Ali Moshrefi

2

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Europe PubMed Central

14 August 2017

Randy Davis

3

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Europe PubMed Central

14 August 2017

Elizabeth Leeth

4

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Europe PubMed Central

14 August 2017

G Bradley Schaeffer

5

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Europe PubMed Central

14 August 2017

González Esteban Burchard

6

1 reference

Europe PubMed Central

14 August 2017

Bristow James

8

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Europe PubMed Central

14 August 2017

Louis Ptacek

9

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14 August 2017

publication date

31 May 2006

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14 August 2017

European Journal of Human Genetics

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Europe PubMed Central

14 August 2017

14

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14 August 2017

9

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Europe PubMed Central

14 August 2017

999-1008

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Europe PubMed Central

14 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201652

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A population‐based study of congenital diaphragmatic hernia

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Evidence-based management of infants with congenital diaphragmatic hernia

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The genetics of congenital diaphragmatic hernia

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Fog2 is required for normal diaphragm and lung development in mice and humans

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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

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21 January 2018

Assembly of microarrays for genome-wide measurement of DNA copy number

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21 January 2018

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

21 January 2018

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

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21 January 2018

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

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21 January 2018

Tissue extraction of DNA and RNA and analysis by the polymerase chain reaction

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21 January 2018

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

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A Pax3/Pax7-dependent population of skeletal muscle progenitor cells

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Repulsive guidance molecule (RGM) gene function is required for neural tube closure but not retinal topography in the mouse visual system

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21 January 2018

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.

1 reference

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21 January 2018

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

1 reference

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FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

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21 January 2018

Ring chromosome 15 in a patient with features of Fryns' syndrome

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21 January 2018

IGF-related proteins at birth in a case of antenatally diagnosed Silver-Russell syndrome

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21 January 2018

Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

1 reference

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21 January 2018

Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?

1 reference

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21 January 2018

Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

21 January 2018

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

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21 January 2018

Structural chromosome anomalies in congenital diaphragmatic hernia

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Reply to Castiglia et al

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24)

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7 January 2021

based on heuristic

inferred from DOI database lookup

Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201652

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201652

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

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