22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review (Q24629063)

10

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author name string

S Rosato

2

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A Wischmeijer

3

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C Gelmini

4

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A Esposito

5

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L Mazzanti

6

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F Franchi

7

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A De Crescenzo

8

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O Palumbo

9

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A Riccio

11

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publication date

December 2011

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published in

Molecular syndromology

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Genomic disorders on 22q11

volume

2

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issue

1

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page(s)

35-44

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cites work

1 reference

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A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

7 April 2017

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Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

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Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

7 April 2017

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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A common molecular basis for rearrangement disorders on chromosome 22q11

7 April 2017

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Genome architecture, rearrangements and genomic disorders

7 April 2017

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miR-130b Promotes CD133(+) liver tumor-initiating cell growth and self-renewal via tumor protein 53-induced nuclear protein 1.

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

27 September 2017

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

27 September 2017

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High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

27 September 2017

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

27 September 2017

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Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality

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Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

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A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

27 September 2017

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1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

30 May 2018

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Another critical region for deletion of 22q11: a study of 100 patients.

30 May 2018

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Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

28 November 2018

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Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

28 November 2018

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A novel atypical 22q11.2 distal deletion in father and son.

28 November 2018

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A novel 22q11.2 microdeletion in DiGeorge syndrome

28 November 2018

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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

28 November 2018

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12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

12 December 2020

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?

1 reference

12 December 2020

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

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12 December 2020

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

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12 December 2020

Identifiers

DOI

10.1159/000334262

1 reference

release_lh5tileqmbetznlcou6g6m3vba

4958525

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lh5tileqmbetznlcou6g6m3vba

24 November 2022

mapped directly with Wikidata item

4958525

1 reference

1 reference

1 reference