(Q35229848)

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Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

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scholarly article

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3 February 2020

1 reference

Europe PubMed Central

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20499338%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

3 references

13 March 2019

22 April 2019

12 October 2019

3 references

13 March 2019

22 April 2019

12 October 2019

1 reference

12 October 2019

Deborah V Novack

4

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3 February 2020

Michael P. Whyte

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Michael P Whyte

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20499338%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

William H. McAlister

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William H McAlister

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3 February 2020

8

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Steven Mumm

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3 February 2020

author name string

Deborah Wenkert

2

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3 February 2020

Angie R Nenninger

5

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3 February 2020

Xiafang Zhang

6

1 reference

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3 February 2020

Margaret Huskey

7

1 reference

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3 February 2020

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1 November 2010

4 references

13 March 2019

22 April 2019

12 October 2019

Europe PubMed Central

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3 February 2020

Journal of Bone and Mineral Research

4 references

13 March 2019

22 April 2019

12 October 2019

Europe PubMed Central

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3 February 2020

25

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3 February 2020

11

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3 February 2020

2527-2539

1 reference

Europe PubMed Central

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3 February 2020

copyright license

Creative Commons Attribution 2.5 Generic

3 references

Europe PubMed Central

13 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

12 October 2019

on focus list of Wikimedia project

0 references

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

The Erlenmeyer flask bone deformity in the skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Advances in osteoclast biology resulting from the study of osteopetrotic mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

The requirement for the p53 proline-rich functional domain for mediation of apoptosis is correlated with specific PIG3 gene transactivation and with transcriptional repression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Dysosteosclerosis: clinicoradiologic findings including brain MRI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Treatment of congenital osteopetrosis with high-dose calcitriol.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Sclerosing bone dysplasias ? a target-site approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Histologic heterogeneity in the hyperostotic bone dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Dysosteosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

13 July 2018

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Osteoprotegerin deficiency and juvenile Paget's disease

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Upper segment/lower segment ratio and armspan-height difference in healthy Turkish children

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Case report: dysosteosclerosis: a unique entity.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Osteopetrosis: (Section for the Study of Disease in Children).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

26 September 2018

A new bone syndrome with skin anomalies and neurologic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179286

26 September 2018

The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.131

21 January 2018

Spondylolysis in children who have osteopetrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked dysosteosclerosis. Four familial cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Dysosteosclerosis--a special form of generalized osteosclerosis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis in a mentally retarded boy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and radiologic findings in an adult male with dysosteosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Manifestation of dysosteosclerosis in the region of the jaw]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Camurati-Engelmann disease: imaging, clinical features and differential diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fourier transform infrared microspectroscopic analysis of bones of osteocalcin-deficient mice provides insight into the function of osteocalcin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/JBMR.131

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20499338%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20499338%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20499338%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

ResearchGate publication ID

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