Literature DB >> 23715793

Detection of carrier status and mutations in family members of a child with complete deletion of the DAX1 gene using multiplex ligation-dependent probe amplification.

Nikhil D Phadke, Kavita A Khatod, Ruchi Nadar, Vaman V Khadilkar, Anuradha V Khadilkar.   

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Year:  2013        PMID： 23715793     DOI： 10.1007/s12098-013-1072-1

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


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  3 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.

Authors:  Sandrine Ostermann; Roberto Salvi; Mariarosaria Lang-Muritano; Marie-Jeanne Voirol; Rudolf Puttinger; Rolf C Gaillard; Eugen Schoenle; François P Pralong
Journal:  Horm Res       Date:  2006

3.  Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.

Authors:  Vaman V Khadilkar; Hari R Mangtani; Rahul R Jahagirdar; Kavita A Khatod; Nikhil D Phadke; Pillay S Deepa; Anuradha V Khadilkar
Journal:  Indian J Pediatr       Date:  2012-12-22       Impact factor: 1.967
  3 in total

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