Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion (Q70913388)

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14 October 2019

title

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion (English)

1 reference

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14 October 2019

author name string

S Debrus

1

1 reference

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14 October 2019

G Berger

2

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14 October 2019

A de Meeus

3

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14 October 2019

U Sauer

4

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14 October 2019

S Guillaumont

5

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14 October 2019

M Voisin

6

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14 October 2019

A Bozio

7

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14 October 2019

S Demczuk

8

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14 October 2019

A Aurias

9

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14 October 2019

P Bouvagnet

10

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14 October 2019

publication date

1 February 1996

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14 October 2019

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14 October 2019

volume

97

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14 October 2019

page(s)

138-144

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14 October 2019

issue

2

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https://scigraph.springernature.com/pub.10.1007/bf02265254

14 October 2019

exact match

0 references

cites work

Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch

1 reference

12 December 2020

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

1 reference

12 December 2020

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome

1 reference

12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

12 December 2020

A simple method of reducing the fading of immunofluorescence during microscopy

1 reference

12 December 2020

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

1 reference

12 December 2020

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

1 reference

12 December 2020

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

1 reference

12 December 2020

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

1 reference

12 December 2020

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

1 reference

12 December 2020

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

1 reference

12 December 2020

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the D22S264 locus

1 reference

12 December 2020

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

1 reference

12 December 2020

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

1 reference

12 December 2020

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1 reference

12 December 2020

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

1 reference

12 December 2020

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

1 reference

12 December 2020

1 reference

12 December 2020

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

12 December 2020

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

1 reference

12 December 2020

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

1 reference

12 December 2020

Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases

1 reference

12 December 2020

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02265254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8566942%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference