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Items: 1 to 20 of 101

1.

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C.

J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.

PMID:
22050868
2.

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 13;8:84. doi: 10.1186/1750-1172-8-84. Review.

3.

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 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. Erratum in: N Engl J Med. 2011 Apr 28;364(17):1682.

4.

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 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.

5.

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. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21.

PMID:
23298686
6.

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. doi: 10.1097/MPH.0000000000000441.

PMID:
26479985
7.

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. doi: 10.1002/pbc.25251. Epub 2014 Oct 4.

PMID:
25284454
8.

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. doi: 10.1097/MPH.0b013e3182679000.

PMID:
23018568
9.

A case of syndromic neutropenia and mutation in G6PC3.

Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Klein C, Pierani P.

J Pediatr Hematol Oncol. 2011 Mar;33(2):138-40. doi: 10.1097/MPH.0b013e3181f46bf4.

PMID:
21285905
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. doi: 10.1111/ejh.12349. Epub 2014 May 13.

PMID:
24750412
11.

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.

Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z.

Iran J Allergy Asthma Immunol. 2011 Sep;10(3):227-30. doi: 010.03/ijaai.227230.

12.

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 14;40:80. doi: 10.1186/s13052-014-0080-8.

13.

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome.

Jun HS, Lee YM, Cheung YY, McDermott DH, Murphy PM, De Ravin SS, Mansfield BC, Chou JY.

Blood. 2010 Oct 14;116(15):2783-92. doi: 10.1182/blood-2009-12-258491. Epub 2010 May 24.

14.

Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency.

Kaya Z, Eğritaş O, Albayrak M, Göçün PU, Koçak U, Dalgiç B, Gürsel T.

J Pediatr Hematol Oncol. 2014 Jul;36(5):e316-8. doi: 10.1097/MPH.0000000000000079.

PMID:
24322501
15.

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

Lin SR, Pan CJ, Mansfield BC, Chou JY.

Mol Genet Metab. 2015 Jan;114(1):41-5. doi: 10.1016/j.ymgme.2014.11.012. Epub 2014 Nov 26.

16.

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. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18.

17.

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC.

Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.

18.

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. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.

19.

Novel genetic etiologies of severe congenital neutropenia.

Boztug K, Klein C.

Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24. Review.

PMID:
19782549
20.

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 10;9:183. doi: 10.1186/s13023-014-0183-8.

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