Literature DB >> 6873943

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

M Teufel, H Enders, R Dopfer.   

Abstract

Two sibs with TAR syndrome and whose parents are blood relatives are described. To our knowledge this is the first report of consanguinity in TAR syndrome.

Entities:  

Mesh：

Year:  1983        PMID： 6873943     DOI： 10.1007/bf00289487

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings.

Authors:  S SHAW; R A OLIVER
Journal:  Blood       Date:  1959-04       Impact factor: 22.113

2.  [Congenital hypoplastic thrombopenia with aplasia of the radius, a syndrome of multiple variations].

Authors:  H GROSS; C GROH; G WEIPPL
Journal:  Neue Osterr Z Kinderheilkd       Date:  1956

3.  Congenital amegakaryocytic thrombocytopenia with congenital deformities and a leukemoid blood picture in the newborn.

Authors:  J L EMERY; R R GORDON; J RENDLESHORT; S VARADI; A J WARRACK
Journal:  Blood       Date:  1957-06       Impact factor: 22.113

4.  The genetics of hand malformations.

Authors:  S A Temtamy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1978

5.  Prenatal diagnosis of thrombocytopenia with absent radii.

Authors:  D A Luthy; J G Hall; C B Graham
Journal:  Clin Genet       Date:  1979-06       Impact factor: 4.438

Review 6.  Phenocopies.

Authors:  W Lenz
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

7.  Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia.

Authors:  R A Pfeiffer; G Maintz; C Haneke
Journal:  Humangenetik       Date:  1973

8.  New features of thrombocytopenia and absent radius syndrome.

Authors:  R M Hays; L E Bartoshesky; M Feingold
Journal:  Birth Defects Orig Artic Ser       Date:  1982

9.  Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions.

Authors:  P S Dignan; A M Mauer; C Frantz
Journal:  J Pediatr       Date:  1967-04       Impact factor: 4.406

Review 10.  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
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  2 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

2.  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 in total

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