Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. (Q52877707)

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18 March 2020

title

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature (English)

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18 March 2020

main subject

Diamond-Blackfan anemia

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1

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18 March 2020

Grant S Stewart

5

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18 March 2020

author name string

Brett Schrewe

2

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18 March 2020

Reza Alizadehfar

3

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18 March 2020

Catherine Vézina

4

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18 March 2020

Nancy Braverman

6

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18 March 2020

language of work or name

English

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publication date

21 April 2017

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American Journal of Medical Genetics

18 March 2020

published in

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18 March 2020

volume

173

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18 March 2020

issue

6

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18 March 2020

page(s)

1514-1520

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

18 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Diamond-Blackfan anemia, ribosome and erythropoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Lymphocyte dysfunction in congenital hypoplastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Immune status of patients with inherited bone marrow failure syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Do ribosomopathies explain some cases of common variable immunodeficiency?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition

21 January 2018

1 reference

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Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders

21 January 2018

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Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Neutrophil functions in patients with inherited bone marrow failure syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

Diamond blackfan anemia stem cells fail to repopulate erythropoiesis in NOD/SCID mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.38208

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28432740 AND SRC:MED&resulttype=core&format=json

18 March 2020

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