(Q34118596)

31 July 2017

title

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing (English)

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31 July 2017

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9

Nada Jabado

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Constantin Polychronakos

object named as

Constantin Polychronakos

6

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author name string

Emilie Lalonde

1

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31 July 2017

Steffen Albrecht

2

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31 July 2017

Kevin C H Ha

3

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31 July 2017

Karine Jacob

4

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31 July 2017

Nathalie Bolduc

5

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31 July 2017

Pierre Dechelotte

7

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31 July 2017

Jacek Majewski

8

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31 July 2017

publication date

1 August 2010

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31 July 2017

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31 July 2017

volume

31

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31 July 2017

issue

8

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31 July 2017

page(s)

918-923

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Fowler syndrome presenting as a Dandy-Walker malformation: a second case report

31 July 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

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7 January 2021

Aligning multiple genomic sequences with the threaded blockset aligner

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7 January 2021

Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1

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7 January 2021

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

The Pfam protein families database

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https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

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7 January 2021

InterPro: the integrative protein signature database

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https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

A case of recurrent first-trimester Fowler syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

A heme export protein is required for red blood cell differentiation and iron homeostasis

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7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

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7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Next-generation DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Early ultrasonographic changes in Fowler syndrome features and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Fowler syndrome-a clinical, radiological, and pathological study of 14 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21293

7 January 2021

Identifiers

DOI

10.1002/HUMU.21293

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31 July 2017

1 reference