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Literature DB >> 3560171

Thrombocytopenia and absent radius (TAR) syndrome.

J G Hall.

Abstract

Entities: Disease

Mesh：

Year: 1987 PMID： 3560171 PMCID： PMC1049893 DOI： 10.1136/jmg.24.2.79

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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19 in total

1. Abnormal platelet function, population, and survival-time in a boy with congenital absent radii and thrombocytopenia.

Authors: Y Sultan; M L Scrobohaci; F Rendu; J P Caen
Journal: Lancet Date: 1972-09-23 Impact factor: 79.321

2. Platelet adenine nucleotide "storage pool deficiency" in thrombocytopenic absent radii syndrome.

Authors: H J Day; H Holmsen
Journal: JAMA Date: 1972-08-28 Impact factor: 56.272

3. Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy.

Authors: K Filkins; J Russo; I Bilinki; N Diamond; B Searle
Journal: Prenat Diagn Date: 1984 Mar-Apr Impact factor: 3.050

4. Muscle abnormalities associated with radial aplasia.

Authors: T D Stephens
Journal: Teratology Date: 1983-02

5. Thrombocytopenia with absent radii.

Authors: J Leclerc; J Toth
Journal: Can Med Assoc J Date: 1982-03-01 Impact factor: 8.262

6. TAR syndrome: Dorsal pedal edema and excessive perspiration.

Authors: M Feingold; L Bartoshesky; N Geis
Journal: Am J Dis Child Date: 1980-09

7. Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi's anaemia.

Authors: J Zahavi; R Gale; V V Kakkar
Journal: Haemostasis Date: 1981

Review 8. Thrombocytopenia with absent radius (TAR).

Authors: J G Hall; J Levin; J P Kuhn; E J Ottenheimer; K A van Berkum; V A McKusick
Journal: Medicine (Baltimore) Date: 1969-11 Impact factor: 1.889

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

Authors: K Anyane-Yeboa; S Jaramillo; C Nagel; B Grebin
Journal: Am J Med Genet Date: 1985-04

10. Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome.

Authors: R Ray; E Zorn; T Kelly; J G Hall; A Sommer
Journal: Am J Med Genet Date: 1980

17 in total

1. Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome.

Authors: Janine Fiedler; Gabriele Strauss; Martin Wannack; Silke Schwiebert; Kerstin Seidel; Katja Henning; Eva Klopocki; Markus Schmugge; Gerhard Gaedicke; Harald Schulze
Journal: Haematologica Date: 2011-09-20 Impact factor: 9.941

Review 2. Fanconi anaemia.

Authors: M D Tischkowitz; S V Hodgson
Journal: J Med Genet Date: 2003-01 Impact factor: 6.318

3. Thrombocytopenia and absent radius (TAR) syndrome in pregnancy.

Authors: Elisa Pereira; Ana Regalo; Lara Caseiro; Joaquim Carvalho
Journal: BMJ Case Rep Date: 2015-09-29

4. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

Authors: Sabine Uhrig; Dietmar Schlembach; Julie Waldispuehl-Geigl; Werner Schaffer; Jochen Geigl; Eva Klopocki; Stefan Mundlos; Michael R Speicher
Journal: Am J Hum Genet Date: 2007-10 Impact factor: 11.025

5. Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Authors: Clémence Vanlerberghe; Anne-Sophie Jourdain; Jamal Ghoumid; Frédéric Frenois; Aurélie Mezel; Guy Vaksmann; Bruno Lenne; Bruno Delobel; Nicole Porchet; Valérie Cormier-Daire; Thomas Smol; Fabienne Escande; Sylvie Manouvrier-Hanu; Florence Petit
Journal: Eur J Hum Genet Date: 2018-12-14 Impact factor: 4.246