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Results: 1 to 20 of 174

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.

PMID:
15994876
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ.

Arthritis Rheum. 2007 Mar;56(3):960-4.

PMID:
17330256
[PubMed - indexed for MEDLINE]
Free Article
3.

Efficacy of anti-IL-1 treatment in Majeed syndrome.

Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ.

Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.

PMID:
23087183
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.

Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH.

J Pediatr. 1989 Nov;115(5 Pt 1):730-4.

PMID:
2809904
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.

Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H.

Bone. 2006 Jan;38(1):41-7. Epub 2005 Aug 24.

PMID:
16122996
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.

Donkor J, Zhang P, Wong S, O'Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K.

J Biol Chem. 2009 Oct 23;284(43):29968-78. doi: 10.1074/jbc.M109.023663. Epub 2009 Aug 28.

PMID:
19717560
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.

Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F.

Eur J Pediatr. 2001 Dec;160(12):705-10.

PMID:
11795677
[PubMed - indexed for MEDLINE]
9.

Autoinflammatory bone disorders.

Ferguson PJ, El-Shanti HI.

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

PMID:
17762617
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
23917160
[PubMed - indexed for MEDLINE]
11.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G.

J Invest Dermatol. 2001 Aug;117(2):179-87.

PMID:
11511292
[PubMed - indexed for MEDLINE]
Free Article
12.

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H.

Arthritis Rheum. 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588.

PMID:
22127713
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
14.

Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia.

Zhou J, Young TL.

Gene. 2005 Jun 6;352:10-9.

PMID:
15862761
[PubMed - indexed for MEDLINE]
15.

On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.

Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri N.

J Pediatr. 2000 Sep;137(3):441-2. No abstract available.

PMID:
10969284
[PubMed - indexed for MEDLINE]
16.

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A.

Eur J Hum Genet. 2002 Mar;10(3):217-21.

PMID:
11973628
[PubMed - indexed for MEDLINE]
Free Article
17.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.

PMID:
17460281
[PubMed - indexed for MEDLINE]
Free Article
18.

Clinical and molecular variability in congenital dyserythropoietic anaemia type I.

Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Eidelitz-Markus T, Tchernia G, Geneviève D, Cormier-Daire V, Bader-Meunier B, Ferrero-Vacher C, Munzer M, Gruppo R, Fibach E, Konen O, Yaniv I, Delaunay J.

Br J Haematol. 2005 Aug;130(4):628-34.

PMID:
16098079
[PubMed - indexed for MEDLINE]
19.

Majeed Syndrome.

El-Shanti H, Ferguson P.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Sep 23 [updated 2013 Mar 14].

PMID:
20301735
[PubMed]
Books & Documents
20.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.

Ophthalmology. 2009 Jan;116(1):154-162.e1. doi: 10.1016/j.ophtha.2008.08.044. Epub 2008 Nov 12.

PMID:
19004499
[PubMed - indexed for MEDLINE]

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