Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). (Q41659452)

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27 October 2019

title

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134) (English)

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27 October 2019

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7

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27 October 2019

Peter J Scambler

9

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27 October 2019

6

J Goodship

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27 October 2019

author name string

R Wadey

1

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27 October 2019

S Daw

2

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27 October 2019

A Wickremasinghe

3

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27 October 2019

C Roberts

4

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27 October 2019

D Wilson

5

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27 October 2019

S Halford

8

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27 October 2019

language of work or name

English

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publication date

1 October 1993

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Journal of Medical Genetics

27 October 2019

published in

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27 October 2019

volume

30

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27 October 2019

issue

10

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27 October 2019

page(s)

818-821

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

27 October 2019

cites work

1 reference

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Noonan's and DiGeorge syndromes with monosomy 22q11.

6 June 2018

1 reference

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Velo-cardio-facial syndrome: a review of 120 patients.

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

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Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects

6 June 2018

1 reference

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

6 June 2018

1 reference

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Interrupted right aortic arch in DiGeorge syndrome

6 June 2018

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Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

6 June 2018

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Molecular cytogenetics: toward dissection of the contiguous gene syndromes

6 June 2018

1 reference

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The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

6 June 2018

1 reference

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Molecular studies of DiGeorge syndrome

6 June 2018

1 reference

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

6 June 2018

1 reference

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The transient expression of type II collagen at tissue interfaces during mammalian craniofacial development

6 June 2018

1 reference

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Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development

6 June 2018

1 reference

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Collagens in avian neural crest development: distribution in vivo and migration-promoting ability in vitro

6 June 2018

1 reference

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

6 June 2018

1 reference

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Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

6 June 2018

1 reference

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016561

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016561

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

6 June 2018

1 reference

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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

6 June 2018

1 reference

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

18 August 2018

1 reference

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

2 December 2018

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12 December 2020

Dependence of thymus development on derivatives of the neural crest

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12 December 2020

Plasticity and predetermination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest

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12 December 2020

Systemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy. 133 randomised trials involving 31,000 recurrences and 24,000 deaths among 75,000 women. Early Breast Cancer Trialists' Collaborative Group

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12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

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12 December 2020

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

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12 December 2020

Identifiers

DOI

10.1136/JMG.30.10.818

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8230156%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

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27 October 2019

PubMed publication ID

8230156

1 reference