(Q35249217)

7 August 2017

title

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

1 reference

7 August 2017

Van Hul W

1

1 reference

7 August 2017

Bollerslev J

2

1 reference

7 August 2017

Gram J

3

1 reference

7 August 2017

Van Hul E

4

1 reference

7 August 2017

Wuyts W

5

1 reference

7 August 2017

Benichou O

6

1 reference

7 August 2017

Vanhoenacker F

7

1 reference

7 August 2017

Willems PJ

8

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 August 1997

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

61

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7 August 2017

issue

2

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7 August 2017

page(s)

363-369

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Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Osteopetrosis. Current clinical considerations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Easy calculations of lod scores and genetic risks on small computers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Human c-fos oncogene mapped within chromosomal region 14q21----q31

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Pathogenesis of osteopetrosis in theia rat: Reduced bone resorption due to reduced osteoclast function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Human CSF-1: gene structure and alternative splicing of mRNA precursors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Molecular cloning of a complementary DNA encoding human macrophage-specific colony-stimulating factor (CSF-1)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

KpnI RFLP for the human CSF-1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Dinucleotide repeat polymorphism in the human SRC gene on chromosome 20

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

A review of the osteopetroses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Bone and haematopoietic defects in mice lacking c-fos

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715917

Failure of bone resorption in a calf

15 November 2018

1 reference

12 December 2020

Osteopetrosis, a New Recessive Skeletal Mutation on Chromosome 12 of the Mouse

1 reference

12 December 2020

Osteopetrosis in children: a report of 26 cases

1 reference

12 December 2020

Osteopetrosis: further heterogeneity

1 reference

12 December 2020

A mild autosomal recessive form of osteopetrosis

1 reference

12 December 2020

Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse

1 reference

12 December 2020

Osteopetrosis. A genetic and epidemiological study

1 reference

12 December 2020

The murine M-CSF gene is localized on chromosome 3

1 reference

12 December 2020

Localization of the SRC oncogene to chromosome band 20q11.2 and loss of this gene with deletion (20q) in two leukemic patients

1 reference

12 December 2020

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

1 reference

12 December 2020

The human macrophage colony-stimulating factor gene is localized at chromosome 1 band p21 and not at 5q33.1

1 reference

12 December 2020

Identifiers

DOI

10.1086/514844

1 reference

7 August 2017

1 reference

7 August 2017

1 reference