Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF.

Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27.

2.

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.

Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ.

Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16.

3.

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI.

J Med Genet. 2008 Mar;45(3):134-41. Epub 2007 Nov 9.

PMID:
17993578
4.

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.

Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M.

Blood. 2005 May 1;105(9):3442-8. Epub 2005 Jan 4.

5.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.

PMID:
24697911
6.

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG.

Blood. 2007 Sep 15;110(6):1906-15. Epub 2007 May 24.

7.

Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W).

Madkaikar M, Gupta M, Dixit A, Patil V.

J Pediatr Hematol Oncol. 2017 Mar;39(2):143-146. doi: 10.1097/MPH.0000000000000597.

PMID:
27271812
8.

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI.

Br J Haematol. 2008 Oct;143(1):75-83. doi: 10.1111/j.1365-2141.2008.07315.x. Epub 2008 Aug 15.

PMID:
18710388
9.

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.

Mhatre S, Madkaikar M, Desai M, Ghosh K.

Blood Cells Mol Dis. 2015 Mar;54(3):250-7. doi: 10.1016/j.bcmd.2014.11.023. Epub 2014 Dec 23.

PMID:
25577959
10.

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, Fadeel B, Nordenskjöld M, Henter JI.

J Med Genet. 2006 Apr;43(4):e14.

11.

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe JC, Micalizzi C, De Fusco C, Danesino C, Moretta L, Notarangelo LD, Griffiths GM, Aricò M.

J Med Genet. 2006 Dec;43(12):953-60. Epub 2006 Jul 6.

12.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi B, Chiang SC, El-Ghoneimy D, Hussein AA, Langenskiöld C, Wali R, Fadoo Z, Silva JP, Lecumberri R, Unal S, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.

Pediatr Blood Cancer. 2015 Dec;62(12):2094-100. doi: 10.1002/pbc.25646. Epub 2015 Jul 16.

PMID:
26184781
13.

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.

Dhingra N, Yadav SP, de Villartay JP, Picard C, Sabharwal RK, Dinand V, Ghuman SS, Sachdeva A.

Hematol Oncol Stem Cell Ther. 2014 Mar;7(1):44-9. doi: 10.1016/j.hemonc.2013.11.001. Epub 2013 Dec 12.

14.

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.

Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3.

PMID:
25841024
15.

Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis.

Galehdari H, Mohammadi E, Andashti B, Naderi A, Molavi MA.

Iran J Immunol. 2007 Jun;4(2):122-6.

PMID:
17652853
16.

A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.

Ueda I, Kohdera U, Hibi S, Inaba T, Yamamoto K, Sugimoto T, Morimoto A, Ishii E, Imashuku S.

Int J Hematol. 2006 Jan;83(1):51-4.

PMID:
16443553
17.

A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.

Romero CA, Sánchez IP, Gutierrez-Hincapié S, Álvarez-Álvarez JA, Pereañez JA, Ochoa R, Muskus-López CE, Eraso RG, Echeverry C, Arango C, Restrepo JL, Trujillo-Vargas CM.

J Clin Immunol. 2015 Jul;35(5):501-11. doi: 10.1007/s10875-015-0169-x. Epub 2015 May 15.

PMID:
25975970
18.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Miyamoto R, Morino H, Yoshizawa A, Miyazaki Y, Maruyama H, Murakami N, Fukada K, Izumi Y, Matsuura S, Kaji R, Kawakami H.

J Neurol Sci. 2014 Feb 15;337(1-2):219-23. doi: 10.1016/j.jns.2013.11.032. Epub 2013 Dec 1.

PMID:
24332946
19.

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B.

Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28.

PMID:
25070513
20.

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S.

Pediatr Blood Cancer. 2006 Apr;46(4):482-8.

PMID:
16365863

Supplemental Content

Support Center