(Q53593753)

16 May 2018

title

Bone marrow transplantation for cartilage-hair-hypoplasia. (English)

1 reference

16 May 2018

1 reference

Guggenheim R

1

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16 May 2018

Somech R

2

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16 May 2018

Grunebaum E

3

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16 May 2018

Atkinson A

4

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16 May 2018

Roifman CM

5

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16 May 2018

language of work or name

English

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publication date

16 October 2006

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16 May 2018

Bone Marrow Transplantation

published in

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16 May 2018

volume

38

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16 May 2018

issue

11

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16 May 2018

page(s)

751-756

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16 May 2018

https://scigraph.springernature.com/pub.10.1038/sj.bmt.1705520

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

A nuclear function for RNase MRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

An interleukin-2 receptor gamma chain mutation with normal thymus morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Bone marrow transplantation for severe combined immune deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Increased mortality in cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Increased incidence of cancer in patients with cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

RMRP mutations in Japanese patients with cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

7 January 2021

Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

7 January 2021

Deficiency of humoral immunity in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

7 January 2021

Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

7 January 2021

Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BMT.1705520

7 January 2021

Identifiers

DOI

10.1038/SJ.BMT.1705520

1 reference

16 May 2018

1 reference

16 May 2018