(Q34137740)

31 July 2017

title

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. (English)

1 reference

31 July 2017

1 reference

Outi Mäkitie

5

0 references

David Rimoin

4

object named as

David L Rimoin

1 reference

31 July 2017

Maaret Ridanpää

1

1 reference

31 July 2017

Pertti Sistonen

2

1 reference

31 July 2017

Susanna Rockas

3

1 reference

31 July 2017

Ilkka Kaitila

6

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31 July 2017

publication date

1 July 2002

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European Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

10

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31 July 2017

issue

7

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31 July 2017

page(s)

439-447

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Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

21 January 2018

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Increased incidence of cancer in patients with cartilage-hair hypoplasia

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Increased mortality in cartilage-hair hypoplasia

21 January 2018

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Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

21 January 2018

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High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Ellis-van Creveld syndrome and the Amish.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Architecture and function of the human endonucleases RNase P and RNase MRP.

21 January 2018

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The Finnish population structure A genetic and genealogical study

21 January 2018

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Disease gene mapping in isolated human populations: the example of Finland

21 January 2018

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Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

21 January 2018

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A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

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Likelihood analysis of disequilibrium mapping, and related problems

21 January 2018

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The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling

21 January 2018

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New estimates of intergenerational time intervals for the calculation of age and origins of mutations

21 January 2018

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Dynamic localization of RNase MRP RNA in the nucleolus observed by fluorescent RNA cytochemistry in living cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Yeast site-specific ribonucleoprotein endoribonuclease MRP contains an RNA component homologous to mammalian RNase MRP RNA and essential for cell viability

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Subcellular partitioning of MRP RNA assessed by ultrastructural and biochemical analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Spectrum of mutations in aspartylglucosaminuria

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Rapid diagnostic test for the major mutation underlying Batten disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

inferred from DOI database lookup

7 January 2021

based on heuristic

The evolution of the RNase P- and RNase MRP-associated RNAs: phylogenetic analysis and nucleotide substitution rate

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200824

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200824

1 reference

31 July 2017

1 reference