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Similar articles for PubMed (Select 22752343)

1.

A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.

Simesen de Bielke MG, Yancoski J, Rocco C, Pérez LE, Cantisano C, Pérez N, Oleastro M, Danielian S.

J Clin Immunol. 2012 Dec;32(6):1197-203. doi: 10.1007/s10875-012-9731-y. Epub 2012 Jul 3.

PMID:
22752343
2.

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Neven B, Magerus-Chatinet A, Florkin B, Gobert D, Lambotte O, De Somer L, Lanzarotti N, Stolzenberg MC, Bader-Meunier B, Aladjidi N, Chantrain C, Bertrand Y, Jeziorski E, Leverger G, Michel G, Suarez F, Oksenhendler E, Hermine O, Blanche S, Picard C, Fischer A, Rieux-Laucat F.

Blood. 2011 Nov 3;118(18):4798-807. doi: 10.1182/blood-2011-04-347641. Epub 2011 Sep 1.

3.

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM.

Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7.

PMID:
22237435
4.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK.

Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.

5.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat F.

J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752. Epub 2010 Dec 22.

6.

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM.

Am J Hum Genet. 1999 Apr;64(4):1002-14.

7.

Common founder effect of rapsyn N88K studied using intragenic markers.

Dunne V, Maselli RA.

J Hum Genet. 2004;49(7):366-9. Epub 2004 Jun 8.

PMID:
15252722
8.

Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.

Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, Patel KD, Jorgenson K, Woodman RC.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):227-38.

PMID:
10575548
9.

Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.

de Rooij FW, Kavelaars FG, Koole-Lesuis H, Wilson JH.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.

PMID:
19656453
10.

Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.

Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.

J Endocrinol. 2007 Oct;195(1):167-77.

11.

Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation.

Hauck F, Magerus-Chatinet A, Vicca S, Rensing-Ehl A, Roesen-Wolff A, Roesler J, Rieux-Laucat F.

Clin Immunol. 2013 Apr;147(1):61-8. doi: 10.1016/j.clim.2013.02.019. Epub 2013 Mar 5.

PMID:
23524443
12.

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U.

BMC Immunol. 2007 Nov 13;8:28.

13.

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

Alavi A, Elahi E, Tehrani MH, Amoli FA, Javadi MA, Rafati N, Chiani M, Banihosseini SS, Bayat B, Kalhor R, Amini SS.

Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4490-7.

PMID:
17898270
14.

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

Lucas GJ, Hocking LJ, Daroszewska A, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Meier C, Hooper MJ, Ralston SH.

J Bone Miner Res. 2005 Feb;20(2):227-31. Epub 2004 Nov 16.

PMID:
15647816
15.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ.

Blood. 2014 Mar 27;123(13):1989-99. doi: 10.1182/blood-2013-10-535393. Epub 2014 Jan 7.

16.

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell A, Lefebvre JF, Bourgeois S, Lemieux-Blanchard E, Labuda M, Vézina H, Houde L, Tremblay M, Toupance B, Heyer E, Hudson TJ, Laberge C.

Hum Genet. 2005 Jul;117(2-3):177-87. Epub 2005 May 10.

PMID:
15883838
17.

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI.

Hum Mutat. 2010 Feb;31(2):143-50. doi: 10.1002/humu.21151.

PMID:
19877175
18.

Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype.

Boggio E, Aricò M, Melensi M, Dianzani I, Ramenghi U, Dianzani U, Chiocchetti A.

Pediatrics. 2013 Oct;132(4):e1052-8. doi: 10.1542/peds.2012-1838. Epub 2013 Sep 16.

19.

The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.

Boggio E, Melensi M, Bocca S, Chiocchetti A, Comi C, Clemente N, Orilieri E, Soluri MF, D'Alfonso S, Mechelli R, Gentile G, Poggi A, Salvetti M, Ramenghi U, Dianzani U.

Hum Immunol. 2012 May;73(5):585-92. doi: 10.1016/j.humimm.2012.02.025. Epub 2012 Mar 7.

PMID:
22425739
20.

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE.

Blood. 1997 Feb 15;89(4):1341-8.

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