A prospective cytogenetic study of 36 cases of DiGeorge syndrome (Q35196113)

7 August 2017

title

A prospective cytogenetic study of 36 cases of DiGeorge syndrome (English)

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7 August 2017

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7 August 2017

Goodship JA

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7 August 2017

Wilson DI

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7 August 2017

Cross IE

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7 August 2017

Brown J

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7 August 2017

Scambler PJ

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7 August 2017

Bain HH

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7 August 2017

Taylor JF

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7 August 2017

Walsh K

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7 August 2017

Bankier A

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7 August 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

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

957-963

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A child trisomic for the distal part of chromosome 14q.

7 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Partial trisomy 1, karyotype 46,XY,12-,t(1q, 12p)+

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Interrupted right aortic arch in DiGeorge syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

DiGeorge anomaly associated with 10p deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Inherited Partial Trisomy 8q (22 → qter)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

The spectrum of the DiGeorge syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682842

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

26 September 2018

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12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

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12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

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12 December 2020

Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome

1 reference

12 December 2020

[Partial monosomy of the short arm of chromosome 10, associated with Rieger's syndrome and a Di George type partial immunodeficiency]

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12 December 2020

Identifiers

PMC publication ID

1682842

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7 August 2017

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