(Q30477238)

8 October 2017

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (English)

1 reference

2q23.1 microdeletion syndrome

8 October 2017

microdeletion syndrome

1 reference

based on heuristic

inferred from title

1 reference

1 reference

corrigendum / erratum

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

1 reference

DOI

10.1038/EJHG.2010.103

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/EJHG.2010.103

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

1 reference

DOI

10.1038/EJHG.2009.200

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/EJHG.2009.200

author

Umberto Balottin

14

1 reference

8 October 2017

16

1 reference

8 October 2017

Susan Moloney

9

0 references

Francesca Novara

Francesca Novara

10

0 references

Marco Fichera

Marco Fichera

28

0 references

Corrado Romano

Corrado Romano

29

0 references

Orsetta Zuffardi

Orsetta Zuffardi

31

0 references

Joris A Veltman

Joris A Veltman

22

0 references

Han G. Brunner

30

Han G Brunner

1 reference

8 October 2017

2

David A Koolen

1 reference

8 October 2017

1

Bregje W M van Bon

1 reference

8 October 2017

5

Klaske D Lichtenbelt

1 reference

8 October 2017

13

Leonardo Zoccante

1 reference

8 October 2017

23

Nicole de Leeuw

1 reference

8 October 2017

26

Santina Reitano

1 reference

8 October 2017

4

Dominic McMullan

1 reference

8 October 2017

6

Lesley C Adès

1 reference

8 October 2017

11

Tiziano Pramparo

1 reference

Bernardo Dalla Bernardina

8 October 2017

12

Bernardo Dalla Bernardina

1 reference

8 October 2017

15

Fausta Piazza

1 reference

8 October 2017

18

Veronica Guerci

1 reference

8 October 2017

19

Marleen Kets

1 reference

8 October 2017

20

Rolph Pfundt

1 reference

8 October 2017

21

Arjan P de Brouwer

1 reference

8 October 2017

25

Jayne Antony

1 reference

8 October 2017

27

Daniela Luciano

1 reference

8 October 2017

32

Bert B A de Vries

1 reference

8 October 2017

Louise Brueton

3

1 reference

8 October 2017

Gregory Peters

7

1 reference

8 October 2017

Kate Gibson

8

1 reference

8 October 2017

Paolo Gasparini

17

1 reference

8 October 2017

Meredith Wilson

24

1 reference

8 October 2017

7 October 2009

1 reference

European Journal of Human Genetics

8 October 2017

1 reference

8 October 2017

18

1 reference

8 October 2017

163-170

1 reference

8 October 2017

2

1 reference

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

8 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Genetic and epigenetic defects in mental retardation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Genotype-phenotype correlations in MYCN-related Feingold syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Monosomy 1p36 deletion syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Characterization of a recurrent 15q24 microdeletion syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

The Epc-N domain: a predicted protein-protein interaction domain found in select chromatin associated proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Diagnostic genome profiling in mental retardation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Angelman syndrome: a review of the clinical and genetic aspects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Comparative study of methyl-CpG-binding domain proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Primer3 on the WWW for general users and for biologist programmers

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987180

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

14 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.152

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.152

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19809484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.152

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.152

1 reference

8 October 2017

1 reference

8 October 2017

1 reference