(Q34044669)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

case report

0 references

title

Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

6

1 reference

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9 November 2019

author name string

Bénichou O

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Cleiren E

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Gram J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Bollerslev J

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

de Vernejoul MC

5

1 reference

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9 November 2019

language of work or name

English

0 references

publication date

23 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 November 2019

published in

1 reference

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9 November 2019

volume

69

1 reference

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9 November 2019

issue

3

1 reference

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9 November 2019

page(s)

647-654

1 reference

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Osteopetrosis: review of dominant cases and frequency in a Brazilian State

9 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Locus heterogeneity of autosomal dominant osteopetrosis (ADO)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Recent developments in the understanding of the pathophysiology of osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

A comprehensive genetic map of the human genome based on 5,264 microsatellites

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Osteopetrosis. Current clinical considerations.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Heterogeneity of autosomal dominant osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Easy calculations of lod scores and genetic risks on small computers

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Further Evidence for Genetic Heterogeneity Within Type II Autosomal Dominant Osteopetrosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235505

Osteopetrosis. A genetic and epidemiological study

10 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11468688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/323132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468688%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

11468688

1 reference