(Q34130018)

31 July 2017

title

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy (English)

1 reference

high-throughput sequencing

31 July 2017

main subject

1 reference

26

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Annie Laquerrière

15

Annie Laquerrière

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Stanislas Lyonnet

27

Stanislas Lyonnet

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Patrick Nitschké

24

Patrick Nitschke

0 references

Tania Attié-Bitach

32

Tania Attié-Bitach

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Soumaya Mougou-Zerelli

19

Soumaya Mougou-Zerelli

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Peter Wookey

Peter Wookey

28

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Heather Etchevers

Heather Etchevers

4

0 references

Gabor Gyapay

29

Gabor Gyapay

1 reference

31 July 2017

1

Sophie Thomas

1 reference

31 July 2017

Christine Bôle-Feysot

23

Christine Bole Feysot

1 reference

31 July 2017

31

Michel Vekemans

1 reference

31 July 2017

10

Maryse Bonnière

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31 July 2017

16

Laurence Loeuillet

1 reference

31 July 2017

19

Soumaya Mougou-Zerelli

1 reference

31 July 2017

17

Joelle Roume

1 reference

31 July 2017

7

Nadia Elkhartoufi

1 reference

31 July 2017

30

Bernard Foliguet

1 reference

31 July 2017

6

Géraldine Goudefroye

1 reference

31 July 2017

3

Louise Devisme

1 reference

31 July 2017

9

Amale Ichkou

1 reference

31 July 2017

12

Philippe Parent

1 reference

31 July 2017

13

Sylvie Manouvrier

1 reference

31 July 2017

Muriel Holder-Espinasse

14

Muriel Holder

1 reference

31 July 2017

author name string

Ferechté Encha-Razavi

2

1 reference

31 July 2017

Bettina Bessieres-Grattagliano

5

1 reference

31 July 2017

Emilie Pateau

8

1 reference

31 July 2017

Pascale Marcorelle

11

1 reference

31 July 2017

Jelena Martinovic

18

1 reference

31 July 2017

Marie Gonzales

20

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31 July 2017

Vincent Meyer

21

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31 July 2017

Marc Wessner

22

1 reference

31 July 2017

Patrick Nitschke

24

1 reference

31 July 2017

Nadia Leticee

25

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31 July 2017

publication date

1 October 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

10

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31 July 2017

page(s)

1134-1141

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Angiogenesis and pericytes in the initiation of ectopic calcification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Multiple sequence alignment with hierarchical clustering

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Biological activity and ferric ion binding of fragments of glycine-extended gastrin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

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.21329

7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Evolution of the MIP family of integral membrane transport proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Identification of a human heme exporter that is essential for erythropoiesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Identification of a feline leukemia virus variant that can use THTR1, FLVCR1, and FLVCR2 for infection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Cytosolic calcium microdomains by arachidonic acid and nitric oxide in endothelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21329

7 January 2021

Identifiers

DOI

10.1002/HUMU.21329

1 reference

release_lyro2y3lanftpfjjdq4rrcunri

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lyro2y3lanftpfjjdq4rrcunri

24 November 2022

mapped directly with Wikidata item

1 reference