Genetic counseling for the 22q11.2 deletion. (Q53465565)

14 May 2018

title

Genetic counseling for the 22q11.2 deletion. (English)

1 reference

14 May 2018

author

Donna M McDonald-McGinn

series ordinal

1

object named as

Donna M McDonald-McGinn

1 reference

14 May 2018

author name string

Elaine H Zackai

series ordinal

2

1 reference

14 May 2018

publication date

1 January 2008

1 reference

14 May 2018

Developmental Disabilities Research Reviews

published in

1 reference

14 May 2018

volume

14

1 reference

14 May 2018

issue

1

1 reference

14 May 2018

page(s)

69-74

1 reference

14 May 2018

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

cites work

1 reference

7 January 2021

Dissecting contiguous gene defects: TBX1.

1 reference

7 January 2021

Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

1 reference

7 January 2021

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

1 reference

7 January 2021

Diaphragmatic hernia in tetrasomy 12p mosaicism

1 reference

7 January 2021

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

1 reference

7 January 2021

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

1 reference

7 January 2021

Phenotype of adults with the 22q11 deletion syndrome: A review

1 reference

7 January 2021

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

1 reference

7 January 2021

Upper limb malformations in DiGeorge syndrome

1 reference

7 January 2021

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

7 January 2021

Renal and urological tract malformations caused by a 22q11 deletion

1 reference

7 January 2021

The annual incidence of DiGeorge/velocardiofacial syndrome

1 reference

7 January 2021

Radial aplasia and chromosome 22q11 deletion

1 reference

7 January 2021

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

1 reference

7 January 2021

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

7 January 2021

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

7 January 2021

Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow

1 reference

7 January 2021

Pharmacogenetics of cancer therapy: getting personal

1 reference

7 January 2021

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

1 reference

7 January 2021

A novel atypical 22q11.2 distal deletion in father and son.

1 reference

7 January 2021

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

7 January 2021

A population study of chromosome 22q11 deletions in infancy

1 reference

7 January 2021

Nasal dimple as part of the 22q11.2 deletion syndrome

1 reference

7 January 2021

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

1 reference

7 January 2021

Arthritis associated with deletion of 22q11.2: more common than previously suspected

1 reference

7 January 2021

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

1 reference

7 January 2021

Graves' disease in patients with 22q11.2 deletion

1 reference

7 January 2021

Opitz GBBB syndrome and the 22q11.2 deletion.

1 reference

7 January 2021

Anatomic patterns of conotruncal defects associated with deletion 22q11

1 reference

7 January 2021

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

1 reference

7 January 2021

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

7 January 2021

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion

1 reference

7 January 2021

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

7 January 2021

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence

1 reference

7 January 2021

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

7 January 2021

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

1 reference

7 January 2021

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

1 reference

7 January 2021

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

1 reference

7 January 2021

Skeletal anomalies and deformities in patients with deletions of 22q11

1 reference

7 January 2021

Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia

1 reference

7 January 2021

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

1 reference

7 January 2021

Limb anomalies in DiGeorge and CHARGE syndromes

1 reference

7 January 2021

A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

7 January 2021

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

1 reference

7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

7 January 2021

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

1 reference

7 January 2021

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

The 22q11 deletion syndromes

1 reference

7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

7 January 2021

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

1 reference

7 January 2021

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

1 reference

7 January 2021

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

1 reference

7 January 2021

Role of TBX1 in human del22q11.2 syndrome

1 reference

7 January 2021

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

1 reference

7 January 2021

Identifiers

DOI

10.1002/DDRR.10

1 reference

14 May 2018

PubMed ID

18636638

1 reference

14 May 2018