(Q33345593)

26 July 2017

Thrombocytopenia-absent radius syndrome: a clinical genetic study (English)

1 reference

26 July 2017

0 references

1 reference

Greenhalgh KL

1

1 reference

26 July 2017

Howell RT

2

1 reference

26 July 2017

Bottani A

3

1 reference

26 July 2017

Ancliff PJ

4

1 reference

26 July 2017

Brunner HG

5

1 reference

26 July 2017

Verschuuren-Bemelmans CC

6

1 reference

26 July 2017

Vernon E

7

1 reference

26 July 2017

Brown KW

8

1 reference

26 July 2017

Newbury-Ecob RA

9

1 reference

26 July 2017

language of work or name

English

0 references

publication date

1 December 2002

1 reference

Journal of Medical Genetics

26 July 2017

1 reference

26 July 2017

39

1 reference

26 July 2017

876-881

1 reference

26 July 2017

12

1 reference

Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings.

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thalidomide in cancer: potential uses and limitations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Radial aplasia and chromosome 22q11 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Roberts syndrome: a review of 100 cases and a new rating system for severity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Heterogeneity in Roberts syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

New features of thrombocytopenia and absent radius syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Micrognathia-prenatal ultrasonographic diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thrombocytopenia with absent radius (TAR).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Teratogen update: clinical aspects of thalidomide embryopathy--a continuing preoccupation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thrombocytopenia with absent radius in a boy and his uncle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thrombocytopenia with absent radii. A review of 100 cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Neurofibromatosis 1 and osseous fibrous dysplasia in a family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Cows' milk allergy in the syndrome of thrombocytopenia with absent radius.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Prenatal diagnosis of thrombocytopenia with absent radii

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Behçet's disease in UK children: clinical features and treatment including thalidomide.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Randomized clinical trial of thalidomide, cyclosporine, and prednisone versus cyclosporine and prednisone as initial therapy for chronic graft-versus-host disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757221

Thrombocytopenia and absent radius (TAR) syndrome

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12471199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Holt-Oram syndrome with associated postaxial and central polydactyly. Further evidence for genetic heterogeneity in the Holt-Oram syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12471199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.39.12.876

1 reference

26 July 2017

1 reference

26 July 2017

1 reference