164 related articles for article (PubMed ID: 24105461)
1. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
Alangari AA; Alsultan A; Osman ME; Anazi S; Alkuraya FS
J Clin Immunol; 2013 Nov; 33(8):1403-6. PubMed ID: 24105461
[TBL] [Abstract][Full Text] [Related]
2. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
Maroufi SF; Shaka Z; Mojtabavi H; Sadeghalvad M; Rayzan E; Sedighi I; Shahkarami S; Najafi M; Rohlfs M; Klein C; Rezaei N
Endocr Metab Immune Disord Drug Targets; 2021; 21(9):1660-1668. PubMed ID: 34137364
[TBL] [Abstract][Full Text] [Related]
3. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
Fernandez BA; Green JS; Bursey F; Barrett B; MacMillan A; McColl S; Fernandez S; Rahman P; Mahoney K; Pereira SL; Scherer SW; Boycott KM; Woods MO;
BMC Med Genet; 2012 Nov; 13():111. PubMed ID: 23171239
[TBL] [Abstract][Full Text] [Related]
4. A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K; Appaswamy G; Ashikov A; Schäffer AA; Salzer U; Diestelhorst J; Germeshausen M; Brandes G; Lee-Gossler J; Noyan F; Gatzke AK; Minkov M; Greil J; Kratz C; Petropoulou T; Pellier I; Bellanné-Chantelot C; Rezaei N; Mönkemöller K; Irani-Hakimeh N; Bakker H; Gerardy-Schahn R; Zeidler C; Grimbacher B; Welte K; Klein C
N Engl J Med; 2009 Jan; 360(1):32-43. PubMed ID: 19118303
[TBL] [Abstract][Full Text] [Related]
5. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S; Newman WG
Orphanet J Rare Dis; 2013 Jun; 8():84. PubMed ID: 23758768
[TBL] [Abstract][Full Text] [Related]
6. Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
Notarangelo LD; Savoldi G; Cavagnini S; Bennato V; Vasile S; Pilotta A; Plebani A; Porta F
Ital J Pediatr; 2014 Nov; 40():80. PubMed ID: 25391451
[TBL] [Abstract][Full Text] [Related]
7. Digenic mutations in severe congenital neutropenia.
Germeshausen M; Zeidler C; Stuhrmann M; Lanciotti M; Ballmaier M; Welte K
Haematologica; 2010 Jul; 95(7):1207-10. PubMed ID: 20220065
[TBL] [Abstract][Full Text] [Related]
8. G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S; Wynn R; Byers H; Arkwright PD; Newman WG
Mol Genet Metab; 2013 Feb; 108(2):138-41. PubMed ID: 23298686
[TBL] [Abstract][Full Text] [Related]
9. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
McDermott DH; De Ravin SS; Jun HS; Liu Q; Priel DA; Noel P; Takemoto CM; Ojode T; Paul SM; Dunsmore KP; Hilligoss D; Marquesen M; Ulrick J; Kuhns DB; Chou JY; Malech HL; Murphy PM
Blood; 2010 Oct; 116(15):2793-802. PubMed ID: 20616219
[TBL] [Abstract][Full Text] [Related]
10. A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.
Arikoglu T; Kuyucu N; Germeshausen M; Kuyucu S
Eur J Haematol; 2015 Jan; 94(1):79-82. PubMed ID: 24750412
[TBL] [Abstract][Full Text] [Related]
11. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
Desplantes C; Fremond ML; Beaupain B; Harousseau JL; Buzyn A; Pellier I; Roques G; Morville P; Paillard C; Bruneau J; Pinson L; Jeziorski E; Vannier JP; Picard C; Bellanger F; Romero N; de Pontual L; Lapillonne H; Lutz P; Chantelot CB; Donadieu J
Orphanet J Rare Dis; 2014 Dec; 9():183. PubMed ID: 25491320
[TBL] [Abstract][Full Text] [Related]
12. Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
Ozgül RK; Yücel-Yilmaz D; Dursun A
J Clin Immunol; 2014 Apr; 34(3):265-6. PubMed ID: 24549407
[No Abstract] [Full Text] [Related]
13. G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
Kiykim A; Baris S; Karakoc-Aydiner E; Ozen AO; Ogulur I; Bozkurt S; Ataizi CC; Boztug K; Barlan IB
J Pediatr Hematol Oncol; 2015 Nov; 37(8):616-22. PubMed ID: 26479985
[TBL] [Abstract][Full Text] [Related]
14. Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A; Yacobovich J; Krasnov T; Koren A; Levin C; Kaplinsky C; Ravel-Vilk S; Laor R; Attias D; Ben Barak A; Shtager D; Stein J; Kuperman A; Miskin H; Dgany O; Giri N; Alter BP; Tamary H
Pediatr Blood Cancer; 2015 Jan; 62(1):103-8. PubMed ID: 25284454
[TBL] [Abstract][Full Text] [Related]
15. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
Banka S; Chervinsky E; Newman WG; Crow YJ; Yeganeh S; Yacobovich J; Donnai D; Shalev S
Eur J Hum Genet; 2011 Jan; 19(1):18-22. PubMed ID: 20717171
[TBL] [Abstract][Full Text] [Related]
16. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR; Vilboux T; O'Brien K; Curry JA; Maynard DM; Carlson-Donohoe H; Ciccone C; ; Markello TC; Gunay-Aygun M; Huizing M; Gahl WA
J Invest Dermatol; 2011 Oct; 131(10):2017-25. PubMed ID: 21677667
[TBL] [Abstract][Full Text] [Related]
17. A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
Aytekin C; Germeshausen M; Tuygun N; Dogu F; Ikinciogullari A
J Pediatr Hematol Oncol; 2013 Mar; 35(2):e81-3. PubMed ID: 23018568
[TBL] [Abstract][Full Text] [Related]
18. A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.
Kaymak Cihan M; Bolat F; Onay H; Sari A; Ünver Korğali E; Aslan Ş; Cura C; İçağasioğlu D
J Pediatr Hematol Oncol; 2016 May; 38(4):324-8. PubMed ID: 26808373
[TBL] [Abstract][Full Text] [Related]
19. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
Aróstegui JI; de Toledo JS; Pascal M; García C; Yagüe J; Díaz de Heredia C
Blood; 2009 Aug; 114(8):1718-9. PubMed ID: 19696212
[No Abstract] [Full Text] [Related]
20. Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L; Svyryd Y; Benítez-Alonso EO; Rivero-García P; Luna-Muñoz L; Mutchinick OM
Rev Invest Clin; 2022; 74(6):328-339. PubMed ID: 36546889
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
