(Q35597309)

9 August 2017

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title

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (English)

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9 August 2017

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dyskeratosis congenita

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X-linked dyskeratosis congenita

inferred from title

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Didier Lacombe

5

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Alain Verloes

13

object named as

Alain Verloes

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2

Clarisse Baumann

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Yves Sznajer

1

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Albert David

3

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Hubert Journel

4

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Yves Perel

6

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Pascale Blouin

7

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Jean-François Segura

8

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Jean-Pierre Cezard

9

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Michel Peuchmaur

10

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Tomy Vulliamy

11

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Inderjeet Dokal

12

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publication date

30 September 2003

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European Journal of Pediatrics

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published in

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volume

162

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issue

12

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9 August 2017

page(s)

863-867

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https://scigraph.springernature.com/pub.10.1007/s00431-003-1317-5

9 August 2017

exact match

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cites work

What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?

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12 December 2020

Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen

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12 December 2020

Dyskeratosis congenita. A disease of premature ageing

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12 December 2020

Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.

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12 December 2020

The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency

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12 December 2020

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

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12 December 2020

Dyskeratosis congenita: two examples of this multisystem disorder.

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12 December 2020

Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages

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12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

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12 December 2020

Telomerase in the human organism

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12 December 2020

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

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12 December 2020

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

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12 December 2020

Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature

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12 December 2020

The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case.

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12 December 2020

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

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12 December 2020

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

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12 December 2020

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

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12 December 2020

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

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12 December 2020

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

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12 December 2020

Assignment of the gene for dyskeratosis congenita to Xq28

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12 December 2020

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

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12 December 2020

10.1007/S00431-003-1317-5

Identifiers

DOI

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9 August 2017

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