Literature DB >> 23164595

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey.

Quentin Hauet, Blandine Beaupain, Maguy Micheau, Monique Blayo, Virginie Gandemer, Frédéric Gottrand, Nicolas Blin, Fanny Fouyssac, Jean Paul Lethor, Christine Bellanné-Chantelot, Damien Bonnet, Jean Donadieu.   

Abstract

Entities:  

Keywords:  Cardiomyopathy; Congenital heart diseases; Shwachman–Diamond syndrome

Mesh：

Year:  2012        PMID： 23164595     DOI： 10.1016/j.ijcard.2012.10.084

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  4 in total

1.  Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.

Authors:  Thomas D Ryan; John L Jefferies; Clifford Chin; Joshua J Sticka; Michael D Taylor; Richard Harris; Joan Moore; Erica Goodridge; Leann Mount; Audrey A Bolyard; Barbara Otto; Amanda Jones; Akiko Shimamura; Stella Davies; Kasiani Myers
Journal:  Pediatr Blood Cancer       Date:  2015-03-02       Impact factor: 3.167

2.  Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

Authors:  Lauri M Burroughs; Akiko Shimamura; Julie-An Talano; Jennifer A Domm; Kelsey K Baker; Colleen Delaney; Haydar Frangoul; David A Margolis; K Scott Baker; Eneida R Nemecek; Amy E Geddis; Brenda M Sandmaier; H Joachim Deeg; Rainer Storb; Ann E Woolfrey
Journal:  Biol Blood Marrow Transplant       Date:  2017-06-07       Impact factor: 5.742

Review 3.  Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.

Authors:  Emma M Groarke; Neal S Young; Katherine R Calvo
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-02       Impact factor: 3.670

4.  Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.

Authors:  Harmen Hawer; Bryce A Mendelsohn; Klaus Mayer; Ann Kung; Amit Malhotra; Sari Tuupanen; Jennifer Schleit; Ulrich Brinkmann; Raffael Schaffrath
Journal:  Eur J Hum Genet       Date:  2020-06-23       Impact factor: 4.246
  4 in total

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