(Q28237543)

3

0 references

Kathleen E. Sullivan

object named as

Kathleen Sullivan

10

0 references

Donna M McDonald-McGinn

2

object named as

Donna M McDonald-McGinn

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author name string

Anne S Bassett

1

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Maria Cristina Digilio

4

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Paula Goldenberg

5

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Alex Habel

6

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Bruno Marino

7

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Solveig Oskarsdottir

8

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Nicole Philip

9

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Ann Swillen

11

0 references

Jacob Vorstman

The Journal of Pediatrics

12

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language of work or name

English

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publication date

August 2011

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published in

0 references

volume

159

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page(s)

332-9.e1

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issue

2

0 references

cites work

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

1 reference

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

20 March 2017

1 reference

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The Philadelphia story: the 22q11.2 deletion: report on 250 patients

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

20 March 2017

1 reference

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Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome

20 March 2017

1 reference

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Evidence-based medicine and practice guidelines: application to genetics

29 September 2017

1 reference

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Premature death in adults with 22q11.2 deletion syndrome

29 September 2017

1 reference

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Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

29 September 2017

1 reference

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The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective

29 September 2017

1 reference

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Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

29 September 2017

1 reference

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Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

29 September 2017

1 reference

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Schizophrenia and 22q11.2 deletion syndrome

29 September 2017

1 reference

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Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

29 September 2017

1 reference

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Recognizing a common genetic syndrome: 22q11.2 deletion syndrome

29 September 2017

1 reference

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Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

29 September 2017

1 reference

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Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

29 September 2017

1 reference

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22q11 deletion: a multisystem disorder requiring multidisciplinary input

29 September 2017

1 reference

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

29 September 2017

1 reference

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Clinical guidelines: developing guidelines

29 September 2017

1 reference

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A population study of chromosome 22q11 deletions in infancy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Prevalence of 22q11 microdeletion

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Genetic counseling for the 22q11.2 deletion.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Clinical features of 78 adults with 22q11 Deletion Syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197829

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

27 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

1 reference

12 December 2020

10.1016/J.JPEDS.2011.02.039

Identifiers

DOI

1 reference

1803761

1803761

1 reference

1 reference

1 reference