(Q83553928)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22382802%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders (English)

1 reference

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24 January 2020

author name string

Swaroop Aradhya

1

1 reference

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24 January 2020

Rachel Lewis

2

1 reference

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24 January 2020

Tahrra Bonaga

3

1 reference

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24 January 2020

Nnenna Nwokekeh

4

1 reference

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24 January 2020

Amanda Stafford

5

1 reference

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24 January 2020

Barbara Boggs

6

1 reference

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24 January 2020

Kathleen Hruska

7

1 reference

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24 January 2020

Nizar Smaoui

8

1 reference

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24 January 2020

John G Compton

9

1 reference

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24 January 2020

Gabriele Richard

10

1 reference

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24 January 2020

Sharon Suchy

11

1 reference

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24 January 2020

publication date

1 March 2012

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24 January 2020

1 reference

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24 January 2020

volume

14

1 reference

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24 January 2020

issue

6

1 reference

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24 January 2020

page(s)

594-603

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2011.65

24 January 2020

exact match

0 references

cites work

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Detection of clinically relevant exonic copy-number changes by array CGH.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple o

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Rapid detection of VHL exon deletions using real-time quantitative PCR.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Copy number variation in human health, disease, and evolution

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Mechanisms of change in gene copy number

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

The link between cytogenetics and mendelism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

PTEN: one gene, many syndromes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.65

7 January 2021

Identifiers

DOI

10.1038/GIM.2011.65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22382802%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference