(Q33611566)

English

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

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

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

1 reference

Europe PubMed Central

28 July 2017

DiGeorge syndrome

1 reference

based on heuristic

inferred from title

ventricular septal defect

1 reference

based on heuristic

inferred from title

10

1 reference

Europe PubMed Central

28 July 2017

Judith A Goodship

3

object named as

Goodship JA

1 reference

Europe PubMed Central

28 July 2017

author name string

Wilson DI

1

1 reference

Europe PubMed Central

28 July 2017

Cross IE

2

1 reference

Europe PubMed Central

28 July 2017

Coulthard S

4

1 reference

Europe PubMed Central

28 July 2017

Carey AH

5

1 reference

Europe PubMed Central

28 July 2017

Scambler PJ

6

1 reference

Europe PubMed Central

28 July 2017

Bain HH

7

1 reference

Europe PubMed Central

28 July 2017

Hunter AS

8

1 reference

Europe PubMed Central

28 July 2017

Carter PE

9

1 reference

Europe PubMed Central

28 July 2017

publication date

1 October 1991

1 reference

Europe PubMed Central

28 July 2017

British Heart Journal

1 reference

Europe PubMed Central

28 July 2017

66

1 reference

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28 July 2017

308-312

1 reference

Europe PubMed Central

28 July 2017

4

1 reference

Europe PubMed Central

28 July 2017

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Interrupted right aortic arch in DiGeorge syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

DiGeorge syndrome in a child with partial monosomy of chromosome 22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

DiGeorge syndrome presenting as severe congenital heart disease in the newborn

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

The spectrum of the DiGeorge syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1024729

21 June 2018

Congenital Cardiovascular Disease and Anomalies of the Third and Fourth Pharyngeal Pouch

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1747284

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/HRT.66.4.308

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

0 references

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