(Q33678881)

28 July 2017

title

Chromosome 22q11 deletion presenting as the Potter sequence (English)

1 reference

28 July 2017

Devriendt K

1

1 reference

28 July 2017

Moerman P

2

1 reference

28 July 2017

Van Schoubroeck D

3

1 reference

28 July 2017

Vandenberghe K

4

1 reference

28 July 2017

Fryns JP

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 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

5

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28 July 2017

page(s)

423-425

1 reference

Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.

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=1050953

Renal and urological tract malformations caused by a 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=1050953

Monozygotic twins with chromosome 22q11 deletion and discordant 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=1050953

DiGeorge syndrome and partial monosomy 10p: case report and 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=1050953

Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050953

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=1050953

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050953

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=1050953

Possible role for COMT in psychosis associated with 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=1050953

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 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=1050953

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050953

Brain anomalies in velo-cardio-facial 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=1050953

Upper limb malformations in DiGeorge 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=1050953

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050953

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

30 October 2018

1 reference

12 December 2020

Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux

1 reference

12 December 2020

Dependence of thymus development on derivatives of the neural crest

1 reference

12 December 2020

Familial nature of congenital absence and severe dysgenesis of both kidneys

1 reference

12 December 2020

Müllerian anomalies and renal agenesis: autosomal dominant urogenital adysplasia

1 reference

12 December 2020

The Potter sequence: a clinical analysis of 80 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA)

1 reference

12 December 2020

Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia

1 reference

12 December 2020

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.5.423

1 reference

28 July 2017

1 reference

28 July 2017

1 reference