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Items: 1 to 20 of 233

1.

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.

2.

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.

3.

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
4.

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.

Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA.

Blood. 2001 Oct 15;98(8):2466-73.

5.

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM.

Cell. 1995 Jun 16;81(6):935-46.

6.

Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.

Choi Y, Ramnath VR, Eaton AS, Chen A, Simon-Stoos KL, Kleiner DE, Erikson J, Puck JM.

Clin Immunol. 1999 Oct;93(1):34-45.

PMID:
10497009
7.

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

Rieux-Laucat F, Blachère S, Danielan S, De Villartay JP, Oleastro M, Solary E, Bader-Meunier B, Arkwright P, Pondaré C, Bernaudin F, Chapel H, Nielsen S, Berrah M, Fischer A, Le Deist F.

Blood. 1999 Oct 15;94(8):2575-82.

8.
9.

A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

Del-Rey M, Ruiz-Contreras J, Bosque A, Calleja S, Gomez-Rial J, Roldan E, Morales P, Serrano A, Anel A, Paz-Artal E, Allende LM.

Blood. 2006 Aug 15;108(4):1306-12. Epub 2006 Apr 20.

10.

Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency.

Ströbel P, Nanan R, Gattenlöhner S, Müller-Deubert S, Müller-Hermelink HK, Kreth HW, Marx A.

Am J Surg Pathol. 1999 Jul;23(7):829-37.

PMID:
10403307
11.

Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

van der Burg M, de Groot R, Comans-Bitter WM, den Hollander JC, Hooijkaas H, Neijens HJ, Berger RM, Oranje AP, Langerak AW, van Dongen JJ.

Pediatr Res. 2000 Mar;47(3):336-43.

PMID:
10709732
12.

Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS).

Arkwright PD, Rieux-Laucat F, Le Deist F, Stevens RF, Angus B, Cant AJ.

Clin Exp Immunol. 2000 Aug;121(2):353-7.

13.

An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome.

Straus SE, Sneller M, Lenardo MJ, Puck JM, Strober W.

Ann Intern Med. 1999 Apr 6;130(7):591-601. Review.

PMID:
10189330
14.

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM.

J Pediatr. 1998 Nov;133(5):629-33.

PMID:
9821419
15.

Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations.

Poppema S, Maggio E, van den Berg A.

Leuk Lymphoma. 2004 Mar;45(3):423-31. Review.

PMID:
15160902
16.

Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F.

N Engl J Med. 2004 Sep 30;351(14):1409-18.

17.

Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

Del-Rey MJ, Manzanares J, Bosque A, Aguiló JI, Gómez-Rial J, Roldan E, Serrano A, Anel A, Paz-Artal E, Allende LM.

Immunobiology. 2007;212(2):73-83. Epub 2007 Jan 19.

PMID:
17336828
18.

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
19.

Molecular genetic studies in lymphocyte apoptosis and human autoimmunity.

Martin DA, Combadiere B, Hornung F, Jiang D, McFarland H, Siegel R, Trageser C, Wang J, Zheng L, Lenardo MJ.

Novartis Found Symp. 1998;215:73-82; discussion 82-91. Review.

PMID:
9760572
20.

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.

Worth A, Thrasher AJ, Gaspar HB.

Br J Haematol. 2006 Apr;133(2):124-40. Review.

PMID:
16611303

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