Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report (Q42078808)

16 October 2017

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Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report (English)

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congenital diaphragmatic hernia

16 October 2017

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1 reference

Hyun Young Ahn

1

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16 October 2017

Jong Chul Shin

2

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16 October 2017

Yeon Hee Kim

3

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16 October 2017

Hyun Sun Ko

4

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16 October 2017

In Yang Park

5

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16 October 2017

Sa Jin Kim

6

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16 October 2017

Jong Gu Rha

7

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16 October 2017

Soo Pyung Kim

8

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16 October 2017

language of work or name

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1 October 2005

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Journal of Korean Medical Science

16 October 2017

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16 October 2017

20

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16 October 2017

5

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16 October 2017

895-898

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Creative Commons Attribution-NonCommercial 3.0 Unported

16 October 2017

start time

1 January 2005

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Pallister-Killian and Fryns syndromes: nosology

30 May 2018

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Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation

30 May 2018

1 reference

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Associated malformations and chromosomal defects in congenital diaphragmatic hernia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779294

Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome

30 May 2018

1 reference

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Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779294

Fryns syndrome in children with congenital diaphragmatic hernia.

30 May 2018

1 reference

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Diaphragmatic hernia in the Coffin-Siris syndrome

17 August 2018

1 reference

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A prospective study of the outcome for fetuses with diaphragmatic hernia

17 August 2018

1 reference

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Patterns of malformation in children with congenital diaphragmatic defects

17 August 2018

1 reference

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Diaphragmatic hernia as the first echographic sign in Apert syndrome

17 August 2018

1 reference

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Structural chromosome anomalies in congenital diaphragmatic hernia

17 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association

1 reference

12 December 2020

Congenital diaphragmatic hernia as a cause of perinatal mortality

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

1 reference

12 December 2020

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error

1 reference

12 December 2020

Cardiovascular abnormalities associated with congenital diaphragmatic hernia

1 reference

12 December 2020

Lethal nonpulmonary anomalies associated with congenital diaphragmatic hernia: implications for early intrauterine surgery

1 reference

12 December 2020

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

1 reference

12 December 2020

Monozygotic twins discordant for partial trisomy 1

1 reference

12 December 2020

Diaphragmatic hernia in tetrasomy 12p mosaicism

1 reference

12 December 2020

Congenital diaphragmatic hernia: the hidden mortality

1 reference

12 December 2020

Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report

1 reference

12 December 2020

10.3346/JKMS.2005.20.5.895

Identifiers

DOI

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

16224171

1 reference