(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

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2 March 2018

Zornitza Stark

object named as

Zornitza Stark

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2 March 2018

author name string

Damien L Bruno

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2 March 2018

David J Amor

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2 March 2018

Trent Burgess

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2 March 2018

Kathy Butler

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2 March 2018

Sylvea Corrie

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2 March 2018

David Francis

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2 March 2018

Louise Hills

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2 March 2018

Paul A James

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2 March 2018

Darren O'Rielly

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2 March 2018

Ralph Oertel

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2 March 2018

Ravi Savarirayan

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2 March 2018

Krishnamurthy Prabhakara

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2 March 2018

Nicholas Salce

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2 March 2018

Howard R Slater

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2 March 2018

publication date

19 September 2011

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2 March 2018

published in

Human Mutation

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volume

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issue

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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

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

Breast cancer risk among male BRCA1 and BRCA2 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

Managing incidental findings in human subjects research: analysis and recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21581

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21581

1 reference

2 March 2018

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2 March 2018