Literature DB >> 21264919

Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship?

Siddharth Banka, Robert Wynn, William G Newman.   

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Year:  2011        PMID： 21264919     DOI： 10.1002/ajh.21930

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  8 in total

1.  Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.

Authors:  Bradley N Smith; Catherine Evans; Akbar Ali; Phil J Ancliff; Bu'hussain Hayee; Anthony W Segal; Georgina Hall; Zuhre Kaya; Abdul Rauf Shakoori; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2012-04-02       Impact factor: 6.998

2.  Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.

Authors:  Su Ru Lin; Chi-Jiunn Pan; Brian C Mansfield; Janice Yang Chou
Journal:  Mol Genet Metab       Date:  2014-11-26       Impact factor: 4.797

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.  Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.

Authors:  Shuquan Rao; Yao Yao; Josias Soares de Brito; Qiuming Yao; Anne H Shen; Ruth E Watkinson; Alyssa L Kennedy; Steven Coyne; Chunyan Ren; Jing Zeng; Anna Victoria Serbin; Sabine Studer; Kaitlyn Ballotti; Chad E Harris; Kevin Luk; Christian S Stevens; Myriam Armant; Luca Pinello; Scot A Wolfe; Roberto Chiarle; Akiko Shimamura; Benhur Lee; Peter E Newburger; Daniel E Bauer
Journal:  Cell Stem Cell       Date:  2021-01-28       Impact factor: 24.633

5.  Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Authors:  Lucia Dora Notarangelo; Gianfranco Savoldi; Sara Cavagnini; Veronica Bennato; Sabrina Vasile; Alba Pilotta; Alessandro Plebani; Fulvio Porta
Journal:  Ital J Pediatr       Date:  2014-11-14       Impact factor: 2.638

Review 6.  Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Authors:  Swati Chaturvedi; Ashok K Singh; Amit K Keshari; Siddhartha Maity; Srimanta Sarkar; Sudipta Saha
Journal:  Scientifica (Cairo)       Date:  2016-03-09

Review 7.  A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Authors:  Siddharth Banka; William G Newman
Journal:  Orphanet J Rare Dis       Date:  2013-06-13       Impact factor: 4.123

8.  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
  8 in total

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