Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases (Q30830662)

14 October 2017

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases (English)

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14 October 2017

2

Chad A Shaw

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14 October 2017

15

James R Lupski

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14 October 2017

11

Pawel Stankiewicz

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14 October 2017

10

Carlos A Bacino

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14 October 2017

3

Ankita Patel

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14 October 2017

13

A Craig Chinault

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14 October 2017

Xinyan Lu

1

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14 October 2017

Jiangzhen Li

4

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14 October 2017

M Lance Cooper

5

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14 October 2017

William R Wells

6

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14 October 2017

Cathy M Sullivan

7

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14 October 2017

Trilochan Sahoo

8

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14 October 2017

Svetlana A Yatsenko

9

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14 October 2017

Zhishu Ou

12

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14 October 2017

Arthur L Beaudet

14

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14 October 2017

Sau W Cheung

16

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14 October 2017

Patricia A Ward

17

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14 October 2017

language of work or name

English

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publication date

28 March 2007

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14 October 2017

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14 October 2017

2

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3

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14 October 2017

e327

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Creative Commons Attribution 4.0 International

14 October 2017

start time

28 March 2007

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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

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Diagnostic genome profiling in mental retardation

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The new cytogenetics: blurring the boundaries with molecular biology

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Comparative genomic hybridization

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

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21 June 2018

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Detection of large-scale variation in the human genome

21 June 2018

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Large-scale copy number polymorphism in the human genome

21 June 2018

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 June 2018

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21 June 2018

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Genome architecture, rearrangements and genomic disorders

21 June 2018

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Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 June 2018

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Charcot-Marie-Tooth disease: lessons in genetic mechanisms

21 June 2018

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Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

21 June 2018

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Karyotyping human chromosomes by combinatorial multi-fluor FISH.

21 June 2018

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Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

21 June 2018

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

21 June 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0000327

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

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Genome structural variation and sporadic disease traits

21 January 2018

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0000327

Reciprocal translocations: a trap for cytogenetists?

21 January 2018

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Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

21 January 2018

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Design considerations for array CGH to oligonucleotide arrays

21 January 2018

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Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

21 January 2018

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Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

21 January 2018

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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

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Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

25 November 2018

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Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

25 November 2018

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12 December 2020

The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia

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10.1371/JOURNAL.PONE.0000327

Identifiers

DOI

1 reference

14 October 2017

0 references

1 reference

14 October 2017

PubMed publication ID

17389918

1 reference