(Q51936823)

17 April 2018

title

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. (English)

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17 April 2018

author name string

Sara Anne Adams

1

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17 April 2018

Justine Coppinger

2

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17 April 2018

Sulagna C Saitta

3

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17 April 2018

Tracy Stroud

4

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17 April 2018

Manikum Kandamurugu

5

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17 April 2018

Zheng Fan

6

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17 April 2018

Blake C Ballif

7

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17 April 2018

Lisa G Shaffer

8

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17 April 2018

Bassem A Bejjani

9

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17 April 2018

language of work or name

English

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publication date

1 May 2009

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17 April 2018

published in

Genetics in Medicine

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17 April 2018

volume

11

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17 April 2018

issue

5

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17 April 2018

page(s)

314-322

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17 April 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

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

21 January 2018

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

21 January 2018

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Atypical cases of Angelman syndrome.

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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Monosomy 1p36 deletion syndrome.

21 January 2018

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

21 January 2018

1 reference

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

21 January 2018

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Recognition and management of childhood cancer syndromes: a systems approach

21 January 2018

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Familial adenomatous polyposis in a patient with unexplained mental retardation.

21 January 2018

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Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

Spectrum of gross deletions and insertions in theRB1 gene in patients with retinoblastoma and association with phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181A028A5

10.1097/GIM.0B013E3181A028A5

21 January 2018

Identifiers

DOI

1 reference

17 April 2018

Dimensions Publication ID

1053202893

0 references

1 reference

17 April 2018