Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. (Q50309543)

2 March 2018

title

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. (English)

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2 March 2018

author

Devika Ganesamoorthy

8

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2 March 2018

Zornitza Stark

2

object named as

Zornitza Stark

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2 March 2018

author name string

Damien L Bruno

1

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2 March 2018

David J Amor

3

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Trent Burgess

4

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Kathy Butler

5

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Sylvea Corrie

6

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David Francis

7

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Louise Hills

9

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Paul A James

10

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Darren O'Rielly

11

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2 March 2018

Ralph Oertel

12

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Ravi Savarirayan

13

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2 March 2018

Krishnamurthy Prabhakara

14

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2 March 2018

Nicholas Salce

15

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Howard R Slater

16

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publication date

19 September 2011

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2 March 2018

published in

Human Mutation

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2 March 2018

volume

32

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issue

12

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page(s)

1500-1506

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2 March 2018

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

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

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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

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MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

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

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Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype

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SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

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

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Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

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Breast cancer risk among male BRCA1 and BRCA2 mutation carriers

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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy

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Germline mutation in DOK7 associated with fetal akinesia deformation sequence

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

21 January 2018

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Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation

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Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21581

1 reference

2 March 2018

PubMed ID

21850686

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2 March 2018