BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 (Q21261511)

17 August 2022

4

Jordi Rosell

Jordi

Rosell

1 reference

17 August 2022

Anna Brunet

1

Anna

Brunet

1 reference

17 August 2022

Lluís Armengol

2

Lluís

Armengol

1 reference

17 August 2022

Damià Heine

3

Damià

Heine

1 reference

17 August 2022

Manel García-Aragonés

5

Manel

García-Aragonés

1 reference

17 August 2022

Elisabeth Gabau

6

Elisabeth

Gabau

1 reference

17 August 2022

Miriam Guitart

8

Miriam

Guitart

1 reference

describes a project that uses

17 August 2022

language of work or name

English

0 references

publication date

2009

0 references

published in

BMC Medical Genetics

0 references

volume

10

0 references

issue

1

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page(s)

144

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limma

object named as

Limma

2 references

Europe PubMed Central

22 June 2022

https://europepmc.org/article/PMC/2805625

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

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Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

19 March 2017

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Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies

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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

19 March 2017

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19 March 2017

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19 March 2017

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19 March 2017

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19 March 2017

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

19 March 2017

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19 March 2017

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

19 March 2017

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19 March 2017

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Defining the clinical spectrum of deletion 22q11.2

19 March 2017

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Deletion 22q11: spectrum of associated disorders

12 September 2017

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

12 September 2017

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12 September 2017

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High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

12 September 2017

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12 September 2017

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12 September 2017

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Phenotype of adults with the 22q11 deletion syndrome: A review

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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27 September 2017

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27 September 2017

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30 May 2018

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21 January 2018

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A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

21 January 2018

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BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

21 January 2018

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Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

21 January 2018

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Genomic imbalances associated with mullerian aplasia

21 January 2018

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FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.

21 January 2018

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Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate

21 January 2018

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Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomoto

21 January 2018

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Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.

21 January 2018

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Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

29 November 2018

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The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

29 November 2018

1 reference

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High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

29 November 2018

1 reference

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20030804

12 December 2020

inferred from PubMed ID database lookup

Chromosome 22q11 deletions in patients with selected outflow tract malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20030804

12 December 2020

inferred from PubMed ID database lookup

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20030804

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/1471-2350-10-144

0 references