(Q54965255)

English

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

scientific article published on 27 October 2014

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. (English)

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

phenotypic heterogeneity

1 reference

based on heuristic

inferred from title

author name string

Nara Sobreira

1

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Peggy Modaff

2

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Gary Steel

3

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Jing You

4

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Sonia Nanda

5

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Julie Hoover-Fong

6

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

David Valle

7

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Richard M Pauli

8

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

language of work or name

0 references

publication date

27 October 2014

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

167A

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

1

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

159-163

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

"Laminopathies": a wide spectrum of human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

14 June 2018

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

13 August 2018

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

13 August 2018

Variability in kyphomelic dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882113

13 August 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36808

21 January 2018

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous form of the Pelger-Huët leukocyte anomaly in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rickets, the continuing challenge

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous form of Pelger-Huët's nuclear anomaly in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Homozygous Pelger-Huët anomaly. Apropos of a case]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous form of the Pelger-Huët anomaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/25348816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.36808

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 June 2018

http://europepmc.org/abstract/PMC/4882113

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q54965255&oldid=1985387159"