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Items: 18

1.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H.

J Med Genet. 2005 Jul;42(7):551-7.

2.

Autoinflammatory bone disorders.

Ferguson PJ, El-Shanti HI.

Curr Opin Rheumatol. 2007 Sep;19(5):492-8. Review.

PMID:
17762617
3.

Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.

Sharma M, Ferguson PJ.

Curr Opin Rheumatol. 2013 Sep;25(5):658-64. doi: 10.1097/BOR.0b013e328363eb08. Review.

4.

Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.

El-Shanti HI, Ferguson PJ.

Clin Orthop Relat Res. 2007 Sep;462:11-9. Review.

PMID:
17496555
5.

Autoinflammatory bone disorders.

Morbach H, Hedrich CM, Beer M, Girschick HJ.

Clin Immunol. 2013 Jun;147(3):185-96. doi: 10.1016/j.clim.2012.12.012. Epub 2013 Jan 5. Review.

PMID:
23369460
6.

[Localized gene of the rare "Norrland disease". CDA-III blood disease with dominant heredity].

Sandstr├Âm H, Wahlin A.

Lakartidningen. 1999 Jan 27;96(4):343-7. Review. Swedish.

PMID:
10024825
7.

Majeed Syndrome.

El-Shanti H, Ferguson P.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Sep 23 [updated 2013 Mar 14].

8.

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.

Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B.

Haematologica. 1996 Nov-Dec;81(6):543-59. Review.

9.

[Autoinflammatory bone disorders in childhood].

Ziobrowska Bech A, Herlin T.

Ugeskr Laeger. 2014 Jul 28;176(31):1367-70. Review. Danish.

PMID:
25292328
10.

Congenital dyserythropoietic anemia in China: a case report from two families and a review.

Ru Y, Liu G, Bai J, Dong S, Nie N, Zhang H, Zhao S, Zheng Y, Zhu X, Nie G, Zhang F, Eyden B.

Ann Hematol. 2014 May;93(5):773-7. doi: 10.1007/s00277-013-1933-8. Epub 2013 Nov 7. Review.

PMID:
24196372
11.

Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis.

Ferguson PJ, Sandu M.

Curr Rheumatol Rep. 2012 Apr;14(2):130-41. doi: 10.1007/s11926-012-0239-5. Review.

12.
13.

Clinical care of children with sterile bone inflammation.

Twilt M, Laxer RM.

Curr Opin Rheumatol. 2011 Sep;23(5):424-31. doi: 10.1097/BOR.0b013e328349c363. Review.

PMID:
21788901
14.

Chronic recurrent multifocal osteomyelitis with unusual features.

Ravelli A, Marseglia GL, Viola S, Ruperto N, Martini A.

Acta Paediatr. 1995 Feb;84(2):222-5. Review.

PMID:
7756816
15.

The congenital dyserythropoietic anaemias.

Delaunay J, Iolascon A.

Baillieres Best Pract Res Clin Haematol. 1999 Dec;12(4):691-705. Review.

PMID:
10895259
16.

The lipin family: mutations and metabolism.

Reue K.

Curr Opin Lipidol. 2009 Jun;20(3):165-70. doi: 10.1097/MOL.0b013e32832adee5. Review.

17.

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].

van Hagen JM, Baart JA, Gille JJ.

Ned Tijdschr Geneeskd. 2005 Apr 23;149(17):929-31. Review. Dutch.

PMID:
15884406
18.

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.

Kluk J, Rustin M, Brogan PA, Omoyinmi E, Rowczenio DM, Willcocks LC, Melly L, Lachmann HJ.

Br J Dermatol. 2014 Jan;170(1):215-7. doi: 10.1111/bjd.12600. Review. No abstract available.

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