Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome (Q30993821)

21 September 2017

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome (English)

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21 September 2017

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7

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28 June 2017

10

Dumanski J

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21 September 2017

6

Goodship J

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21 September 2017

Carey AH

1

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21 September 2017

Kelly D

2

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21 September 2017

Halford S

3

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21 September 2017

Wadey R

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21 September 2017

Wilson D

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21 September 2017

Paul T

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21 September 2017

Sharkey A

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21 September 2017

language of work or name

English

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publication date

1 November 1992

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American Journal of Human Genetics

21 September 2017

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21 September 2017

51

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21 September 2017

5

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21 September 2017

964-970

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Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes

21 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

The DiGeorge anomaly as a developmental field defect

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Di George anomaly and velocardiofacial 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=1682857

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Microdeletions within 22q11 associated with sporadic and familial 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=1682857

A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with 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=1682857

A prospective cytogenetic study of 36 cases of 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=1682857

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

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=1682857

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682857

Spectrum of the DiGeorge "syndrome"

25 November 2018

1 reference

12 December 2020

Dependence of thymus development on derivatives of the neural crest

1 reference

12 December 2020

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

1 reference

12 December 2020

The DiGeorge syndrome and the fetal alcohol syndrome

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

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12 December 2020

Identifiers

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21 September 2017

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