(Q34694730)

4 August 2017

title

The phenotype of recurrent 10q22q23 deletions and duplications (English)

1 reference

Margherita Cirillo Silengo

4 August 2017

1 reference

19

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4 August 2017

Annalisa Vetro

20

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Orsetta Zuffardi

Orsetta Zuffardi

29

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Jacques S Beckmann

Jacques S Beckmann

10

0 references

James R. Lupski

31

James R Lupski

1 reference

4 August 2017

28

Han G Brunner

1 reference

4 August 2017

27

Pawel Stankiewicz

1 reference

4 August 2017

23

Rolph Pfundt

1 reference

4 August 2017

15

Ankita Patel

1 reference

4 August 2017

32

Bert B A de Vries

1 reference

4 August 2017

22

Nicole de Leeuw

1 reference

Sandesh Chakravarthy Sreenath Nagamani

4 August 2017

4

Sandesh Chakravarthy Sreenath Nagamani

1 reference

4 August 2017

14

Sau Wai Cheung

1 reference

4 August 2017

Bregje W M van Bon

1

1 reference

4 August 2017

Jorune Balciuniene

2

1 reference

4 August 2017

Gary Fruhman

3

1 reference

4 August 2017

Diane L Broome

5

1 reference

4 August 2017

Elizabeth Cameron

6

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4 August 2017

Danielle Martinet

7

1 reference

4 August 2017

Eliane Roulet

8

1 reference

4 August 2017

Sebastien Jacquemont

9

1 reference

4 August 2017

Mira Irons

11

1 reference

4 August 2017

Lorraine Potocki

12

1 reference

4 August 2017

Brendan Lee

13

1 reference

4 August 2017

Melissa Bellini

16

1 reference

4 August 2017

Angelo Selicorni

17

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4 August 2017

Roberto Ciccone

18

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4 August 2017

Nine V Knoers

21

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4 August 2017

Barry Wolf

24

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4 August 2017

Petr Jira

25

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4 August 2017

Swaroop Aradhya

26

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4 August 2017

Scott B Selleck

30

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4 August 2017

language of work or name

1 reference

19 January 2011

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European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

volume

19

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4 August 2017

issue

4

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4 August 2017

page(s)

400-408

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Duplication hotspots, rare genomic disorders, and common disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genomic disorders ten years on.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

A MicroRNA gene is hosted in an intron of a schizophrenia-susceptibility gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

A 15q13.3 microdeletion segregating with autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Mechanisms for human genomic rearrangements

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Large recurrent microdeletions associated with schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Rare chromosomal deletions and duplications increase risk of schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Novel microdeletion syndromes detected by chromosome microarrays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

The role of NRG3 in mammary development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Glutamate and schizophrenia: beyond the dopamine hypothesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Identification of the scaramanga gene implicates Neuregulin3 in mammary gland specification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

PTEN: one gene, many syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Telomeres: a diagnosis at the end of the chromosomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Mutational mechanisms of Williams-Beuren syndrome deletions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Neuregulins: functions, forms, and signaling strategies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Low cerebrospinal fluid glutamate in schizophrenic patients and a new hypothesis on schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Contiguous gene syndromes: a component of recognizable syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

The excitatory amino acid receptors: their classes, pharmacology, and distinct properties in the function of the central nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Molecular cloning of a cDNA encoding a novel member of the mouse glutamate receptor channel family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Genetic syndromes among individuals with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Partial trisomy of chromosome 10(q22-q24) due to maternal insertional translocation (15;10)

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060324

Genome Scan of Han Chinese Schizophrenia Families From Taiwan: Confirmation of Linkage to 10q22.3

26 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.211

Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case

21 January 2018

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial deletions of chromosome 22q11

1 reference

12 December 2020

Deletions of the long arm of chromosome 10

1 reference

12 December 2020

Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12

1 reference

12 December 2020

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.211

1 reference

Dimensions Publication ID

4 August 2017

0 references

1 reference

4 August 2017

1 reference