(Q24538890)

1

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J P Willner

2

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T M Dunn

3

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N B Kardon

4

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A Verloes

5

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J Poncin

American Journal of Human Genetics

6

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language of work or name

English

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publication date

April 1998

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published in

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volume

62

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issue

4

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page(s)

848-54

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cites work

Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Structure and chromosomal assignment of the human cathepsin K gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Genomic organization and chromosome localization of the human cathepsin K gene (CTSK)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

The gene for pycnodysostosis maps to human chromosome 1cen-q21

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution

24 March 2017

1 reference

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24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: chromosomal orientation, new markers, and a 6-Mb YAC contig

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377035

Osteopetrosis acro-osteolytica. A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull

30 May 2018

1 reference

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A new genetic concept: uniparental disomy and its potential effect, isodisomy

29 November 2018

1 reference

12 December 2020

Pycnodysostosis. Orthopedic aspects with a description of 14 new cases

1 reference

12 December 2020

Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus

1 reference

12 December 2020

Establishment of the marker order pter-NRAS-NGFB-D1S189-D1S252-D1S440-D1S453-D1S514-CEN-D1S442-D1S498-qte r in relation to the centromere on human chromosome 1

1 reference

12 December 2020

Aneuploidy in human sperm: results of two- and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y

1 reference

12 December 2020

Meiotic segregation of the X and Y chromosomes and chromosome 1 analyzed by three-color FISH in human interphase spermatozoa

1 reference

12 December 2020

Trisomy 1 in a clinically recognized pregnancy

1 reference

12 December 2020

Chiasma derived genetic maps and recombination fractions: chromosome 1

1 reference

12 December 2020

Pycnodysostosis. Clinical and genetic considerations

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301795

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301795

1 reference

1 reference

1 reference

PubMed publication ID

9529353

1 reference