(Q40580721)

21 September 2017

Molecular studies of DiGeorge syndrome (English)

1 reference

21 September 2017

W J Fibison

1

1 reference

21 September 2017

M Budarf

2

1 reference

21 September 2017

H McDermid

3

1 reference

21 September 2017

F Greenberg

4

1 reference

21 September 2017

B S Emanuel

5

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 May 1990

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

46

1 reference

21 September 2017

5

1 reference

21 September 2017

888-895

1 reference

CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

The DiGeorge anomaly as a developmental field defect

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Microdeletion syndromes, balanced translocations, and gene mapping

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Contiguous gene syndromes: a component of recognizable syndromes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Comparative mapping of the constitutional and tumor-associated 11;22 translocations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

A genetic linkage map of the long arm of human chromosome 22.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Detection of specific sequences among DNA fragments separated by gel electrophoresis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Multifocal meningiomas in a patient with a constitutional ring chromosome 22.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

bcr genes and transcripts

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

DiGeorge's or the III-IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

Phenotypic correlations in patients with ring chromosome 22.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

The spectrum of the DiGeorge syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683603

An improved method for G-banding chromosomes after in situ hybridization

20 August 2018

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

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1 reference

12 December 2020

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

12 December 2020

Linear order of the four BCR-related loci in 22q11

1 reference

12 December 2020

In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations

1 reference

12 December 2020

Identifiers

1 reference

21 September 2017

PubMed publication ID

2339689

1 reference