Literature DB >> 24549407

Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.

Riza Köksal Ozgül1, Didem Yücel-Yilmaz, Ali Dursun.   

Abstract

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Year:  2014        PMID： 24549407     DOI： 10.1007/s10875-014-9999-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  5 in total

1.  G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Authors:  Siddharth Banka; Robert Wynn; Helen Byers; Peter D Arkwright; William G Newman
Journal:  Mol Genet Metab       Date:  2012-12-21       Impact factor: 4.797

2.  Mutations in the G6PC3 gene cause Dursun syndrome.

Authors:  Siddharth Banka; William G Newman; R Koksal Ozgül; Ali Dursun
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

3.  A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.

Authors:  Abdullah A Alangari; Abdulrahman Alsultan; Mohamed Elfaki Osman; Shamsa Anazi; Fowzan S Alkuraya
Journal:  J Clin Immunol       Date:  2013-10-09       Impact factor: 8.317

4.  Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

Authors:  Ali Dursun; R Koksal Ozgul; Asli Soydas; Tugba Tugrul; Aytemiz Gurgey; Alpay Celiker; Robyn J Barst; James A Knowles; Mansukhani Mahesh; Jane H Morse
Journal:  Clin Dysmorphol       Date:  2009-01       Impact factor: 0.816

5.  A syndrome with congenital neutropenia and mutations in G6PC3.

Authors:  Kaan Boztug; Giridharan Appaswamy; Angel Ashikov; Alejandro A Schäffer; Ulrich Salzer; Jana Diestelhorst; Manuela Germeshausen; Gudrun Brandes; Jacqueline Lee-Gossler; Fatih Noyan; Anna-Katherina Gatzke; Milen Minkov; Johann Greil; Christian Kratz; Theoni Petropoulou; Isabelle Pellier; Christine Bellanné-Chantelot; Nima Rezaei; Kirsten Mönkemöller; Noha Irani-Hakimeh; Hans Bakker; Rita Gerardy-Schahn; Cornelia Zeidler; Bodo Grimbacher; Karl Welte; Christoph Klein
Journal:  N Engl J Med       Date:  2009-01-01       Impact factor: 91.245
  5 in total
  1 in total

1.  Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Authors:  Claire Desplantes; Marie Louise Fremond; Blandine Beaupain; Jean Luc Harousseau; Agnès Buzyn; Isabelle Pellier; Gaelle Roques; Pierre Morville; Catherine Paillard; Julie Bruneau; Lucile Pinson; Eric Jeziorski; Jean Pierre Vannier; Capucine Picard; Florence Bellanger; Norma Romero; Loïc de Pontual; Hélène Lapillonne; Patrick Lutz; Christine Bellanné Chantelot; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2014-12-10       Impact factor: 4.123
  1 in total

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