(Q24680375)

18

0 references

Reinhard Ullmann

16

0 references

Judith Goslin Hall

5

object named as

Judith Hall

0 references

Eva Klopocki

object named as

Eva Klopocki

1

0 references

Claus E Ott

1 reference

ORCID Public Data File 2021

Denise Horn

17

object named as

Denise Horn

0 references

author name string

Harald Schulze

2

0 references

Gabriele Strauss

3

0 references

Claus-Eric Ott

4

0 references

Fabienne Trotier

6

0 references

Silke Fleischhauer

7

0 references

Lynn Greenhalgh

8

0 references

Ruth A Newbury-Ecob

9

0 references

Luitgard M Neumann

10

0 references

Rolf Habenicht

11

0 references

Rainer König

12

0 references

Eva Seemanova

13

0 references

André Megarbane

American Journal of Human Genetics

14

0 references

language of work or name

English

0 references

publication date

February 2007

0 references

published in

0 references

volume

80

0 references

page(s)

232-40

0 references

issue

2

0 references

cites work

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1 reference

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FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

7 April 2017

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7 April 2017

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The zinc finger protein Gfi-1 can enhance STAT3 signaling by interacting with the STAT3 inhibitor PIAS3

7 April 2017

1 reference

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Fine-scale structural variation of the human genome

7 April 2017

1 reference

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Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

7 April 2017

2 references

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Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome

7 April 2017

1 reference

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A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant

7 April 2017

1 reference

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Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac

7 April 2017

1 reference

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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

7 April 2017

1 reference

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Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii

7 April 2017

1 reference

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Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

28 September 2017

1 reference

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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

28 September 2017

1 reference

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A set of BAC clones spanning the human genome

28 September 2017

1 reference

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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

28 September 2017

1 reference

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Thrombocytopenia-absent radius syndrome: a clinical genetic study

28 September 2017

1 reference

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

28 September 2017

1 reference

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

28 September 2017

1 reference

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The Stat family in cytokine signaling

28 September 2017

1 reference

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Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii

28 September 2017

1 reference

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Thrombopoietin induces the generation of distinct Stat1, Stat3, Stat5a and Stat5b homo- and heterodimeric complexes with different kinetics in human platelets

28 September 2017

1 reference

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Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).

28 September 2017

1 reference

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Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

28 September 2017

1 reference

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Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

28 September 2017

1 reference

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Thrombocytopenia with absent radius (TAR).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

The TAR syndrome in 3 unrelated children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Thrombocytopenia with absent radius in a boy and his uncle

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

A case of autism and uniparental disomy of chromosome 1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Cloning and expression analysis of chicken Lix1, a founding member of a novel gene family.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785342

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

28 November 2018

1 reference

12 December 2020

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

12 December 2020

Dactylaplasia in mice a two-locus model for development anomalies

1 reference

12 December 2020

Thrombocytopenia and absent radius (TAR) syndrome

1 reference

12 December 2020

Thrombopoietin, c-Mpl ligand, induces tyrosine phosphorylation of Tyk2, JAK2, and STAT3, and enhances agonists-induced aggregation in platelets in vitro

1 reference

12 December 2020

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F510919

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/510919

0 references

Fatcat ID

release_xlt4sjqpkzbmxmnunz3c6wzlue

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xlt4sjqpkzbmxmnunz3c6wzlue

24 November 2022