(Q33736688)

29 July 2017

1 reference

title

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

1 reference

29 July 2017

22q11 deletion syndrome

1 reference

1 reference

E Cohen

1

1 reference

29 July 2017

E W Chow

series ordinal

2

1 reference

29 July 2017

R Weksberg

series ordinal

3

1 reference

29 July 2017

A S Bassett

series ordinal

4

1 reference

29 July 2017

1 October 1999

1 reference

American Journal of Medical Genetics Part A

29 July 2017

1 reference

29 July 2017

86

1 reference

29 July 2017

4

1 reference

29 July 2017

359-365

1 reference

22q11 deletion syndrome: a genetic subtype of schizophrenia

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

The annual incidence of DiGeorge/velocardiofacial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

22q11 deletion syndrome in adults with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Craniofacial morphology of conotruncal anomaly face syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Chromosome 22q11 deletion presenting as the Potter sequence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Monozygotic twins with 22q11 deletion and discordant phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Prevalence of 22q11 microdeletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome: a review of 120 patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

DiGeorge syndrome: part of CATCH 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Cerebellar atrophy in a patient with velocardiofacial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velocardiofacial syndrome: learning difficulties and intervention

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

The velo-cardio-facial syndrome: a clinical and genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome: language and psychological profiles.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velo-cardio-facial syndrome presenting as holoprosencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Di George anomaly and velocardiofacial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism.

21 June 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

XIST expression and X-chromosome inactivation in human preimplantation embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276590

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

30 October 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C359%3A%3AAID-AJMG10%3E3.0.CO%3B2-V

Familial deletions of chromosome 22q11

21 January 2018

1 reference

12 December 2020

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1 reference

12 December 2020

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

1 reference

12 December 2020

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients

1 reference

12 December 2020

Late‐Onset psychosis in the velo‐cardio‐facial syndrome

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

12 December 2020

Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11

1 reference

12 December 2020

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

1 reference

12 December 2020

Subglottic web in a mother and son with 22q11.2 deletion

1 reference

12 December 2020

Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex

1 reference

12 December 2020

Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

1 reference

12 December 2020

Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions

1 reference

12 December 2020

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients

1 reference

12 December 2020

Upper limb malformations in chromosome 22q11 deletions

1 reference

12 December 2020

Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders

1 reference

12 December 2020

Cardiac malformations in the velocardiofacial syndrome

1 reference

12 December 2020

Tetralogy of Fallot. The spectrum of severity in a regional study, 1981-1985

1 reference

12 December 2020

Long-term results of total repair of tetralogy of Fallot in adulthood: 35 years follow-up in 104 patients corrected at the age of 18 or older

1 reference

12 December 2020

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion

1 reference

12 December 2020

Microdeletion 22q11 in complex cardiovascular malformations

1 reference

12 December 2020

10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference