Literature DB >> 466849

Prenatal diagnosis of thrombocytopenia with absent radii.

D A Luthy, J G Hall, C B Graham.   

Abstract

Six pregnancies at risk for thrombocytopenia and absent radii (TAR) have been studied between 16 and 20 menstrual weeks utilizing fetal radiography. Two affected and four unaffected fetuses have been correctly identified. Fetal radiography can provide reliable prenatal diagnosis in pregnancies at risk for TAR.

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Mesh：

Year:  1979        PMID： 466849     DOI： 10.1111/j.1399-0004.1979.tb00831.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  Thrombocytopenia and absent radius (TAR) syndrome.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

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

Authors:  M Teufel; H Enders; R Dopfer
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Holt Oram syndrome mistaken for thalidomide embryopathy--embryological considerations.

Authors:  N Van Regemorter; D Haumont; C Kirkpatrick; P Viseur; P Jeanty; J Dodion; J Milaire; M Rooze; F Rodesch
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

5.  Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Authors:  Irene Bottillo; Marco Castori; Carmelilia De Bernardo; Romano Fabbri; Barbara Grammatico; Nicoletta Preziosi; Giovanna Sforzolini Scassellati; Evelina Silvestri; Antonella Spagnuolo; Luigi Laino; Paola Grammatico
Journal:  BMC Res Notes       Date:  2013-09-22
  5 in total

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