(Q35247877)

7 August 2017

title

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly (English)

1 reference

7 August 2017

F Greenberg

1

1 reference

7 August 2017

F F Elder

2

1 reference

7 August 2017

P Haffner

3

1 reference

7 August 2017

H Northrup

4

1 reference

7 August 2017

D H Ledbetter

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 November 1988

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

43

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7 August 2017

issue

5

1 reference

7 August 2017

page(s)

605-611

1 reference

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

Partial monosomy of chromosome 10 short arms.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

Monosomy of chromosome No. 22. A case report.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

The DiGeorge anomaly as a developmental field defect

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

High Resolution of Human Chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

Inherited Partial Trisomy 8q (22 → qter)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

The spectrum of the DiGeorge syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715550

Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome

12 July 2018

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Radioimmunoassay for the middle region of human parathyroid hormone using an homologous antiserum with a carboxy-terminal fragment of bovine parathyroid hormone as radioligand

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

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]

1 reference

12 December 2020

Partial monosomy 10p syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

12 December 2020

Identifiers

PMC publication ID

1715550

1 reference

7 August 2017

1 reference