(Q33585486)

28 July 2017

1 reference

title

Velo-cardio-facial syndrome: 30 Years of study (English)

1 reference

28 July 2017

Robert J Shprintzen

1

1 reference

28 July 2017

publication date

1 January 2008

1 reference

Developmental Disabilities Research Reviews

28 July 2017

published in

1 reference

28 July 2017

volume

14

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

3-10

1 reference

Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 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=2805186

Defining the clinical spectrum of deletion 22q11.2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and 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=2805186

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Radiographic study of the upper cervical spine in the 22q11.2 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=2805186

Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

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=2805186

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/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=2805186

Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to 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=2805186

Velo-cardio-facial syndrome: a distinctive behavioral 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=2805186

A common molecular basis for rearrangement disorders on 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=2805186

A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and 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=2805186

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=2805186

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=2805186

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) 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=2805186

Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of 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=2805186

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) 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=2805186

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=2805186

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=2805186

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=2805186

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=2805186

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=2805186

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=2805186

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=2805186

Ocular findings in the 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=2805186

Abnormal carotid arteries in the velocardiofacial syndrome: a report of three 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=2805186

Upper airway obstruction and the Robin 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=2805186

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=2805186

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=2805186

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: 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=2805186

Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FDDRR.2

Hippocampal volume reduction in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Upper airway asymmetry in velo-cardio-facial syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Velo-cardio-facial syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Replacement of antipsychotic and antiepileptic medication by L-alpha-methyldopa in a woman with velocardiofacial syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

22q11 deletion and polymicrogyria--cause or coincidence?

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805186

Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)

31 October 2018

1 reference

12 December 2020

Palatal and pharyngeal anomalies in craniofacial syndromes

1 reference

12 December 2020

Craniofacial morphology in the velo-cardio-facial syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Graves' disease in patients with 22q11.2 deletion

1 reference

12 December 2020

Pharyngeal flap and the internal carotid in velocardiofacial syndrome

1 reference

12 December 2020

Thickness and Histologic and Histochemical Properties of the Superior Pharyngeal Constrictor Muscle in Velocardiofacial Syndrome

1 reference

12 December 2020

Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

12 December 2020

The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome

1 reference

12 December 2020

Skeletal anomalies and deformities in patients with deletions of 22q11

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets

1 reference

12 December 2020

Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study

1 reference

12 December 2020

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

1 reference

12 December 2020

Cardiac malformations in the velocardiofacial syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FDDRR.2

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/DDRR.2

1 reference

28 July 2017

1 reference

28 July 2017

1 reference