(Q54448704)

English

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.

scientific article published in January 2010

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

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osteoporosis-pseudoglioma syndrome

1 reference

based on heuristic

inferred from title

Takashi Shiihara

3

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

author name string

Satoshi Narumi

1

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Chikahiko Numakura

2

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Chizuru Seiwa

4

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

Yasuyuki Nozaki

5

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Takanori Yamagata

6

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Mariko Y Momoi

7

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Yoriko Watanabe

8

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Makoto Yoshino

9

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Toyojiro Matsuishi

10

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Eriko Nishi

11

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Hiroshi Kawame

12

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Tsutomu Akahane

13

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Gen Nishimura

14

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Mitsuru Emi

15

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Europe PubMed Central

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Tomonobu Hasegawa

16

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29 May 2018

http://europepmc.org/abstract/MED/20034086

language of work or name

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publication date

1 January 2010

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29 May 2018

http://europepmc.org/abstract/MED/20034086

American Journal of Medical Genetics

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29 May 2018

http://europepmc.org/abstract/MED/20034086

152A

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29 May 2018

http://europepmc.org/abstract/MED/20034086

1

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133-140

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29 May 2018

http://europepmc.org/abstract/MED/20034086

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Epidemiology and outcomes of osteoporotic fractures

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

The fine-scale and complex architecture of human copy-number variation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

An LDL-receptor-related protein mediates Wnt signalling in mice

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

LDL-receptor-related proteins in Wnt signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

arrow encodes an LDL-receptor-related protein essential for Wingless signalling

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Influence of LRP5 Polymorphisms on Normal Variation in BMD

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Common Genetic Variation of the Low-Density Lipoprotein Receptor-Related Protein 5 and 6 Genes Determines Fracture Risk in Elderly White Men

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33177

21 January 2018

Identifiers

10.1002/AJMG.A.33177

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/20034086

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