Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? (Q33678348)

28 July 2017

title

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? (English)

1 reference

28 July 2017

Worthington S

1

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28 July 2017

Colley A

2

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28 July 2017

Fagan K

3

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28 July 2017

Dai K

4

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28 July 2017

Lipson AH

5

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28 July 2017

language of work or name

English

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publication date

1 January 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

1

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28 July 2017

page(s)

79-82

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

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=1050852

Deletions of human chromosome 22 and associated birth defects.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

DiGeorge syndrome: part of CATCH 22.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Canavan disease: mutations among Jewish and non-Jewish patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Isotretinoin embryopathy and the cranial neural crest: an in vivo and in vitro study.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Incidence, frequency of types, and etiology of anorectal malformations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Embryology of the cloaca and embryogenesis of anorectal malformations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

The spectrum of the DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

A clinical follow-up of British patients with FG syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050852

Cardiovascular malformations associated with imperforate anus

30 October 2018

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

The VATER association. Analysis of 46 patients

1 reference

12 December 2020

A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease

1 reference

12 December 2020

Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome

1 reference

12 December 2020

Asymmetric crying facies: an index of other congenital anomalies

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.1.79

1 reference

release_23wfhnngdzh63i246va7eftrky

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/23wfhnngdzh63i246va7eftrky

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1050852

1 reference

28 July 2017

1 reference