Literature DB >> 22983925

Ghosal hematodiaphyseal dysplasia with myelofibrosis.

Kalpana Datta1, Madan Karmakar, Michael Hira, Sanjay Halder, Koushik Pramanik, Goutam Banerjee.   

Abstract

Diaphyseal dysplasia with refractory anemia requiring blood transfusion is a relatively new entity having possible autosomal recessive inheritance. Prednisolone therapy alleviates the need for repeated transfusion. One such case is being reported here.

Entities:  

Mesh：

Year:  2012        PMID： 22983925     DOI： 10.1007/s12098-012-0872-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  Diaphyseal dysplasia [corrected] with anemia and thrombocytopenia.

Authors:  A Bagga; V P Choudhry
Journal:  Indian Pediatr       Date:  1989-11       Impact factor: 1.411

2.  A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.

Authors:  B Isidor; N Dagoneau; C Huber; D Genevieve; B Bader-Meunier; S Blanche; C Picard; M C De Vernejoul; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  Hum Genet       Date:  2007-01-03       Impact factor: 4.132

3.  Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

Authors:  Parisa Mazaheri; Girish Nadkarni; Elizabeth Lowe; Patrick Hines; Melena Vuica; Matthew Griffin; Linda M S Resar
Journal:  Pediatr Blood Cancer       Date:  2010-12-01       Impact factor: 3.167

4.  High-dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia.

Authors:  S Ozsoylu
Journal:  J Pediatr       Date:  1989-05       Impact factor: 4.406

5.  Ghosal haemato-diaphyseal dysplasia: a new disorder.

Authors:  F Gümrük; A Besim; C Altay
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

6.  [Ghosal haematodiaphyseal dysplasia: a new case].

Authors:  C Vignon-Savoye; M Le Merrer; A Vincens; M Monfort; P Talon
Journal:  Arch Pediatr       Date:  2005-08       Impact factor: 1.180

7.  Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Authors:  David Geneviève; Valérie Proulle; Bertrand Isidor; Samuel Bellais; Valérie Serre; Fatima Djouadi; Capucine Picard; Capucine Vignon-Savoye; Brigitte Bader-Meunier; Stéphane Blanche; Marie-Christine de Vernejoul; Laurence Legeai-Mallet; Anne-Marie Fischer; Martine Le Merrer; Marie Dreyfus; Pascale Gaussem; Arnold Munnich; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2008-02-10       Impact factor: 38.330

8.  Diaphyseal dysplasia associated with anemia.

Authors:  S P Ghosal; A K Mukherjee; D Mukherjee; A K Ghosh
Journal:  J Pediatr       Date:  1988-07       Impact factor: 4.406

Review 9.  Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.

Authors:  R K Mondal; B Karmakar; P K Chandra; K Mukherjee
Journal:  Indian J Pediatr       Date:  2007-03       Impact factor: 5.319
  9 in total
  2 in total

Review 1.  Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.

Authors:  Richa Arora; Shagun Aggarwal; Swaroopa Deme
Journal:  Skeletal Radiol       Date:  2014-08-30       Impact factor: 2.199

2.  Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Authors:  Sun Young Kim; Alexander Ing; Shunyou Gong; Kai Lee Yap; Rukhmi Bhat
Journal:  Mol Genet Genomic Med       Date:  2021-02-17       Impact factor: 2.183
  2 in total

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