(Q39068495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140377%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140377%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

7

1 reference

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17 January 2020

Dianne F Newbury

11

1 reference

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17 January 2020

Orsetta Zuffardi

18

1 reference

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17 January 2020

Samantha J.L. Knight

21

1 reference

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17 January 2020

author name string

J Wincent

1

1 reference

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17 January 2020

D L Bruno

2

1 reference

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17 January 2020

B W M van Bon

3

1 reference

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17 January 2020

A Bremer

4

1 reference

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17 January 2020

H Stewart

5

1 reference

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17 January 2020

E M H F Bongers

6

1 reference

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17 January 2020

M H Willemsen

8

1 reference

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17 January 2020

D D A Keays

9

1 reference

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17 January 2020

G Baird

10

1 reference

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17 January 2020

T Kleefstra

12

1 reference

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17 January 2020

C Marcelis

13

1 reference

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17 January 2020

U Kini

14

1 reference

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17 January 2020

Z Stark

15

1 reference

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17 January 2020

R Savarirayan

16

1 reference

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17 January 2020

L J Sheffield

17

1 reference

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17 January 2020

H R Slater

19

1 reference

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17 January 2020

B B de Vries

20

1 reference

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17 January 2020

B-M Anderlid

22

1 reference

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17 January 2020

J Schoumans

23

1 reference

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17 January 2020

publication date

1 January 2010

1 reference

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17 January 2020

published in

Molecular syndromology

1 reference

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17 January 2020

volume

1

1 reference

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17 January 2020

issue

5

1 reference

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17 January 2020

page(s)

246-254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140377%20AND%20SRC:MED&resulttype=core&format=json

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Microduplication 22q11.2: a new chromosomal syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Population analysis of large copy number variants and hotspots of human genetic disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Clinical variability of the 22q11.2 duplication syndrome.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Defining the clinical spectrum of deletion 22q11.2

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Microduplication and triplication of 22q11.2: a highly variable syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Genomic disorders on 22q11

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Molecular mechanisms for constitutional chromosomal rearrangements in humans

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A common molecular basis for rearrangement disorders on chromosome 22q11

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

The aetiology of the cat eye syndrome reconsidered

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

The association of aniridia, Wilms's tumor, and genital abnormalities

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

The velo-cardio-facial syndrome: a clinical and genetic analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A de novo paradigm for mental retardation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Distal 22q11.2 microduplication encompassing the BCR gene.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

A novel 22q11.2 microdeletion in DiGeorge syndrome

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214948

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

2 December 2018

1 reference

12 December 2020

The 22q11.2 deletion syndrome

1 reference

12 December 2020

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

1 reference

12 December 2020

Duplication of the 22q11.2 region associated with congenital cardiac disease

1 reference

12 December 2020

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

12 December 2020

Identifiers

DOI

10.1159/000327982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140377%20AND%20SRC:MED&resulttype=core&format=json

release_6rmwose7z5flpa6gsrjjh4g6iq

17 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6rmwose7z5flpa6gsrjjh4g6iq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140377%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference