Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. (Q53645235)

16 May 2018

title

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

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16 May 2018

congenital diaphragmatic hernia

main subject

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S Kantarci

1

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16 May 2018

D Casavant

2

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16 May 2018

C Prada

3

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16 May 2018

M Russell

4

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16 May 2018

J Byrne

5

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16 May 2018

L Wilkins Haug

6

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16 May 2018

R Jennings

7

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16 May 2018

S Manning

8

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16 May 2018

T K Boyd

9

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16 May 2018

J P Fryns

10

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16 May 2018

L B Holmes

11

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16 May 2018

P K Donahoe

12

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16 May 2018

C Lee

13

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16 May 2018

V Kimonis

14

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16 May 2018

B R Pober

15

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16 May 2018

language of work or name

English

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publication date

1 January 2006

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16 May 2018

American Journal of Medical Genetics

published in

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16 May 2018

volume

140

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16 May 2018

issue

1

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16 May 2018

page(s)

17-23

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16 May 2018

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

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1 reference

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The genetics of congenital diaphragmatic hernia

22 May 2018

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Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

22 May 2018

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

22 May 2018

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Detection of large-scale variation in the human genome

22 May 2018

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Large-scale copy number polymorphism in the human genome

22 May 2018

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

22 May 2018

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Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice

22 May 2018

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A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3.

22 May 2018

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Variability in the phenotypic expression of fryns syndrome: A report of two sibships

22 May 2018

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Etiologic and genetic factors in congenital diaphragmatic hernia

22 May 2018

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Campomelic dysplasia: evidence of autosomal dominant inheritance

22 May 2018

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

22 May 2018

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Skeletal manifestations in Fryns syndrome

22 May 2018

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The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance

22 May 2018

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Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia

22 May 2018

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Fryns syndrome in a girl born to consanguineous parents

22 May 2018

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The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome

22 May 2018

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

22 May 2018

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Osteochondrodysplasia in Fryns syndrome

22 May 2018

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A population‐based study of congenital diaphragmatic hernia

22 May 2018

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A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

22 May 2018

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Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?

22 May 2018

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Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

13 August 2018

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Fryns syndrome: a review of the phenotype and diagnostic guidelines.

13 August 2018

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Documentation of anomalies not previously described in Fryns syndrome.

13 August 2018

1 reference

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High resolution comparative genomic hybridisation in clinical cytogenetics

13 August 2018

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The epidemiology of diaphragmatic hernia

13 August 2018

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Report on the Fifth International Conference on Neuronal Ceroid-Lipofuscinoses.

13 August 2018

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Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.31025

Fryns syndrome with osteochondrodysplasia

21 January 2018

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12 December 2020

Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism

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12 December 2020

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

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12 December 2020

Digit effects produced by prenatal exposure to antiepileptic drugs

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12 December 2020

Diaphragmatic hernia in Denys-Drash syndrome

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.31025

1 reference

16 May 2018

PMC publication ID

2891730

1 reference

16 May 2018

PubMed publication ID

16333846

1 reference

16 May 2018