The phenotype of recurrent 10q22q23 deletions and duplications (Q34694730)

4 August 2017

title

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

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Margherita Cirillo Silengo

4 August 2017

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4 August 2017

Annalisa Vetro

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Orsetta Zuffardi

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Jacques S Beckmann

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James R Lupski

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4 August 2017

Han G Brunner

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4 August 2017

Pawel Stankiewicz

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4 August 2017

Rolph Pfundt

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4 August 2017

Ankita Patel

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4 August 2017

Bert B A de Vries

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4 August 2017

Nicole de Leeuw

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Sandesh Chakravarthy Sreenath Nagamani

4 August 2017

object named as

Sandesh Chakravarthy Sreenath Nagamani

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4 August 2017

Sau Wai Cheung

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4 August 2017

Bregje W M van Bon

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4 August 2017

Jorune Balciuniene

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4 August 2017

Gary Fruhman

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4 August 2017

Diane L Broome

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4 August 2017

Elizabeth Cameron

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4 August 2017

Danielle Martinet

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4 August 2017

Eliane Roulet

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4 August 2017

Sebastien Jacquemont

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4 August 2017

Mira Irons

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4 August 2017

Lorraine Potocki

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4 August 2017

Brendan Lee

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4 August 2017

Melissa Bellini

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4 August 2017

Angelo Selicorni

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4 August 2017

Roberto Ciccone

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4 August 2017

Nine V Knoers

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4 August 2017

Barry Wolf

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4 August 2017

Petr Jira

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4 August 2017

Swaroop Aradhya

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4 August 2017

Scott B Selleck

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4 August 2017

language of work or name

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19 January 2011

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European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

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4 August 2017

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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

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7 July 2018

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

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7 July 2018

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7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

7 July 2018

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

7 July 2018

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A 15q13.3 microdeletion segregating with autism

7 July 2018

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

7 July 2018

1 reference

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Mechanisms for human genomic rearrangements

7 July 2018

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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

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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

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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

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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

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1 reference

4 August 2017

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