-
1
-
-
0031832573
-
Consequences of the delayed diagnosis of Ataxia-Telangiectasia
-
DOI 10.1542/peds.102.1.98
-
Consequences of the delayed diagnosis of ataxia-telangiectasia. Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM, Pediatrics 1998 102 98 100 (Pubitemid 28309252)
-
(1998)
Pediatrics
, vol.102
, Issue.1
, pp. 98-100
-
-
Cabana, M.D.1
Crawford, T.O.2
Winkelstein, J.A.3
Christensen, J.R.4
Lederman, H.M.5
-
2
-
-
3242876404
-
Ataxia-telangiectasia, an evolving phenotype
-
DOI 10.1016/j.dnarep.2004.04.010, PII S1568786404001417
-
Ataxia-telangiectasia, an evolving phenotype. Chun HH, Gatti RA, DNA Repair (Amst) 2004 3 8-9 1187 96 (Pubitemid 38997962)
-
(2004)
DNA Repair
, vol.3
, Issue.8-9
, pp. 1187-1196
-
-
Chun, H.H.1
Gatti, R.A.2
-
3
-
-
0029014436
-
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: Linkage analysis of 176 families by an international consortium
-
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Lange E, Borresen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, et al. Am J Hum Genet 1995 57 1 112 9
-
(1995)
Am J Hum Genet
, vol.57
, Issue.1
, pp. 112-119
-
-
Lange, E.1
Borresen, A.L.2
Chen, X.3
Chessa, L.4
Chiplunkar, S.5
Concannon, P.6
Dandekar, S.7
Gerken, S.8
Lange, K.9
Liang, T.10
-
4
-
-
0024205754
-
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
-
DOI 10.1038/336577a0
-
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K, et al. Nature 1988 336 6199 577 80 (Pubitemid 19007315)
-
(1988)
Nature
, vol.336
, Issue.6199
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
Braedt, G.4
Charmley, P.5
Concannon, P.6
Ersoy, F.7
Foroud, T.8
Jaspers, N.G.J.9
Lange, K.10
Lathrop, G.M.11
Leppert, M.12
Nakamura, Y.13
O'Connell, P.14
Paterson, M.15
Salser, W.16
Sanal, O.17
Silver, J.18
Sparkes, R.S.19
-
6
-
-
0344062639
-
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
-
DOI 10.1016/j.ymgme.2003.09.008
-
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA, Mol Genet Metab 2003 80 4 437 43 (Pubitemid 37491205)
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, Issue.4
, pp. 437-443
-
-
Chun, H.H.1
Sun, X.2
Nahas, S.A.3
Teraoka, S.4
Lai, C.-H.5
Concannon, P.6
Gatti, R.A.7
-
7
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
DOI 10.1038/nature05257, PII NATURE05257
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S, Nature 2006 444 7115 110 4 (Pubitemid 44684766)
-
(2006)
Nature
, vol.444
, Issue.7115
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.-C.2
Lambert, N.3
Pasquier, B.4
Mateo, V.5
Soulas, P.6
Galicier, L.7
Le Deist, F.8
Rieux-Laucat, F.9
Revy, P.10
Fischer, A.11
De Saint Basile, G.12
Latour, S.13
-
8
-
-
43249105936
-
An immunodeficiency disease with RAG mutations and granulomas
-
DOI 10.1056/NEJMoa073966
-
An immunodeficiency disease with RAG mutations and granulomas. Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T, N Engl J Med 2008 358 19 2030 8 (Pubitemid 351656457)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.19
, pp. 2030-2038
-
-
Schuetz, C.1
Huck, K.2
Gudowius, S.3
Megahed, M.4
Feyen, O.5
Hubner, B.6
Schneider, D.T.7
Manfras, B.8
Pannicke, U.9
Willemze, R.10
Knuchel, R.11
Gobel, U.12
Schulz, A.13
Borkhardt, A.14
Friedrich, W.15
Schwarz, K.16
Niehues, T.17
-
9
-
-
22944443601
-
Cutaneous granulomas associated with primary immunodeficiency disorders
-
DOI 10.1111/j.1365-2133.2005.06619.x
-
Cutaneous granulomas associated with primary immunodeficiency disorders. Mitra A, Pollock B, Gooi J, Darling JC, Boon A, Newton-Bishop JA, Br J Dermatol 2005 153 1 194 9 (Pubitemid 41044550)
-
(2005)
British Journal of Dermatology
, vol.153
, Issue.1
, pp. 194-199
-
-
Mitra, A.1
Pollock, B.2
Gooi, J.3
Darling, J.C.4
Boon, A.5
Newton-Bishop, J.A.6
-
10
-
-
1342346488
-
Cutaneous Sarcoid-like Granulomas in a Patient with X-Linked Hyper-IgM Syndrome
-
DOI 10.1111/j.0736-8046.2004.21107.x
-
Cutaneous sarcoid-like granulomas in a patient with X-linked hyper-IgM syndrome. Gallerani I, Innocenti DD, Coronella G, Berti S, Amato L, Moretti S, Fabbri P, Pediatr Dermatol 2004 21 1 39 43 (Pubitemid 38248965)
-
(2004)
Pediatric Dermatology
, vol.21
, Issue.1
, pp. 39-43
-
-
Gallerani, I.1
Innocenti, D.D.2
Coronella, G.3
Berti, S.4
Amato, L.5
Moretti, S.6
Fabbri, P.7
-
11
-
-
33646020972
-
Etanercept treatment of cutaneous granulomas in common variable immunodeficiency
-
Etanercept treatment of cutaneous granulomas in common variable immunodeficiency. Lin JH, Liebhaber M, Roberts RL, Dyer Z, Stiehm ER, J Allergy Clin Immunol 2006 117 4 878 82
-
(2006)
J Allergy Clin Immunol
, vol.117
, Issue.4
, pp. 878-882
-
-
Lin, J.H.1
Liebhaber, M.2
Roberts, R.L.3
Dyer, Z.4
Stiehm, E.R.5
-
12
-
-
33748894934
-
Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency
-
Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency. Abdel-Naser MB, Wollina U, El Hefnawi MA, Habib MA, El Okby M, J Drugs Dermatol 2006 5 4 370 2
-
(2006)
J Drugs Dermatol
, vol.5
, Issue.4
, pp. 370-372
-
-
Abdel-Naser, M.B.1
Wollina, U.2
El Hefnawi, M.A.3
Habib, M.A.4
El Okby, M.5
-
13
-
-
37449034326
-
Granulomatous disease in common variable immunodeficiency
-
Granulomatous disease in common variable immunodeficiency. Malphettes M, Oksenhendler E, Galicier L, Fieschi C, Rev Med Interne 2008 29 1 28 32
-
(2008)
Rev Med Interne
, vol.29
, Issue.1
, pp. 28-32
-
-
Malphettes, M.1
Oksenhendler, E.2
Galicier, L.3
Fieschi, C.4
-
14
-
-
0027746766
-
Acquired hypogammaglobulinemia and multifocal granulomatosis
-
Acquired hypogammaglobulinemia and multifocal granulomatosis. Vergnon JM, Guichenez P, Oriol P, Poulard G, Jaubert J, Emonot A, Rev Mal Respir 1993 10 5 480 2
-
(1993)
Rev Mal Respir
, vol.10
, Issue.5
, pp. 480-482
-
-
Vergnon, J.M.1
Guichenez, P.2
Oriol, P.3
Poulard, G.4
Jaubert, J.5
Emonot, A.6
-
15
-
-
0025909749
-
Caseating cutaneous granulomas in a patient with X-linked infantile hypogammaglobulinemia
-
Caseating cutaneous granulomas in a patient with X-linked infantile hypogammaglobulinemia. Fleming MG, Gewurz AT, Pearson RW, J Am Acad Dermatol 1991 24 4 629 33
-
(1991)
J Am Acad Dermatol
, vol.24
, Issue.4
, pp. 629-633
-
-
Fleming, M.G.1
Gewurz, A.T.2
Pearson, R.W.3
-
16
-
-
0025872158
-
Cutaneous granulomatous lesions in patients with ataxia-telangiectasia
-
Cutaneous granulomatous lesions in patients with ataxia-telangiectasia. Paller AS, Massey RB, Curtis MA, Pelachyk JM, Dombrowski HC, Leickly FE, Swift M, J Pediatr 1991 119 6 917 22
-
(1991)
J Pediatr
, vol.119
, Issue.6
, pp. 917-922
-
-
Paller, A.S.1
Massey, R.B.2
Curtis, M.A.3
Pelachyk, J.M.4
Dombrowski, H.C.5
Leickly, F.E.6
Swift, M.7
-
17
-
-
0030999452
-
Cutaneous granulomas as a presenting sign in ataxia-telangiectasia
-
Cutaneous granulomas as a presenting sign in ataxia-telangiectasia. Drolet BA, Drolet B, Zvulunov A, Jacobsen R, Troy J, Esterly NB, Dermatology 1997 194 3 273 5 (Pubitemid 27216043)
-
(1997)
Dermatology
, vol.194
, Issue.3
, pp. 273-275
-
-
Drolet, B.A.1
Drolet, B.2
Zvulunov, A.3
Jacobsen, R.4
Troy, J.5
Esterly, N.B.6
-
18
-
-
0027428814
-
Cutaneous granuloma with ataxia telangiectasia - A case report and review of literature
-
Cutaneous granuloma with ataxia telangiectasia - a case report and review of literature. Joshi RK, al Asiri RH, Haleem A, Abanmi A, Patel CK, Clin Exp Dermatol 1993 18 5 458 61 (Pubitemid 23285477)
-
(1993)
Clinical and Experimental Dermatology
, vol.18
, Issue.5
, pp. 458-461
-
-
Joshi, R.K.1
Al Asiri, R.H.2
Haleem, A.3
Abanmi, A.4
Patel, C.K.5
-
19
-
-
0033175294
-
Lesions granulomateuses cutanees revelatrices d'une ataxie- telangiectasie
-
Cutaneous granulomatous lesions disclosing ataxia-telangiectasia. Corbisier A, Eschard C, Motte J, Munzer M, Barhoum K, Kalis B, Grosshans E, Ann Dermatol Venereol 1999 126 8-9 608 11 (Pubitemid 29470239)
-
(1999)
Annales de Dermatologie et de Venereologie
, vol.126
, Issue.8-9
, pp. 608-611
-
-
Corbisier, A.1
Eschard, C.2
Motte, J.3
Munzer, M.4
Barhoum, K.5
Kalis, B.6
Grosshans, E.7
-
20
-
-
0033007875
-
Cutaneous granulomas in a patient with common variable immunodeficiency [12]
-
DOI 10.1080/000155599750010869
-
Cutaneous granulomas in a patient with common variable immunodeficiency. Alvarez-Cuesta C, Molinos L, Cascante JA, Soler T, Pérez-Oliva N, Acta Derm Venereol 1999 79 4 334 (Pubitemid 29302075)
-
(1999)
Acta Dermato-Venereologica
, vol.79
, Issue.4
, pp. 334
-
-
Alvarez-Cuesta, C.1
Molinos, L.2
Cascante, J.A.3
Soler, T.4
Parez-Oliva, N.5
-
21
-
-
0032915552
-
Cutaneous and hepatic granulomas in a young woman with common variable immunodeficiency [7]
-
DOI 10.1046/j.1365-2133.1999.02733.x
-
Cutaneous and hepatic granulomas in a young woman with common variable immunodeficiency. Cornejo P, Romero A, Lápez S, Guerra A, Gil R, Iglesias L, Br J Dermatol 1999 140 3 546 7 (Pubitemid 29182899)
-
(1999)
British Journal of Dermatology
, vol.140
, Issue.3
, pp. 546-547
-
-
Cornejo, P.1
Romero, A.2
Lopez, S.3
Guerra, A.4
Gil, R.5
Iglesias, L.6
-
22
-
-
27644587567
-
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients
-
DOI 10.1111/j.1399-3038.2005.00323.x
-
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. Claret Teruel G, Giner Mũoz MT, Plaza Martín AM, Martín Mateos MA, Piquer Gibert M, Sierra Martínez JI, Pediatr Allergy Immunol 2005 16 7 615 8 (Pubitemid 41564687)
-
(2005)
Pediatric Allergy and Immunology
, vol.16
, Issue.7
, pp. 615-618
-
-
Claret Teruel, G.1
Giner Munoz, M.T.2
Plaza Martin, A.M.3
Martin Mateos, M.A.4
Piquer Gibert, M.5
Sierra Martinez, J.I.6
-
23
-
-
45149117672
-
Different clinical and immunological presentation of ataxia- telangiectasia within the same family
-
DOI 10.1055/s-2008-1076736
-
Different clinical and immunological presentation of ataxia- telangiectasia within the same family. Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A, Neuropediatrics 2008 39 1 43 5 (Pubitemid 351828317)
-
(2008)
Neuropediatrics
, vol.39
, Issue.1
, pp. 43-45
-
-
Soresina, A.1
Meini, A.2
Lougaris, V.3
Cattaneo, G.4
Pellegrino, S.5
Piane, M.6
Darra, F.7
Plebani, A.8
-
24
-
-
73449092798
-
Phenotypic variations between affected siblings with ataxia- telangiectasia: Ataxia-telangiectasia in Japan
-
Phenotypic variations between affected siblings with ataxia- telangiectasia: ataxia-telangiectasia in Japan. Morio T, Takahashi N, Watanabe F, Honda F, Sato M, Takagi M, Imadome KI, Miyawaki T, Delia D, Nakamura K, Gatti RA, Mizutani S, Int J Hematol 2009 90 4 455 62
-
(2009)
Int J Hematol
, vol.90
, Issue.4
, pp. 455-462
-
-
Morio, T.1
Takahashi, N.2
Watanabe, F.3
Honda, F.4
Sato, M.5
Takagi, M.6
Imadome, K.I.7
Miyawaki, T.8
Delia, D.9
Nakamura, K.10
Gatti, R.A.11
Mizutani, S.12
-
25
-
-
0033909670
-
Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
-
DOI 10.1006/mgme.2000.2998
-
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA, Mol Genet Metab 2000 70 2 122 33 (Pubitemid 30460455)
-
(2000)
Molecular Genetics and Metabolism
, vol.70
, Issue.2
, pp. 122-133
-
-
Becker-Catania, S.G.1
Chen, G.2
Hwang, M.J.3
Wang, Z.4
Sun, X.5
Sanal, O.6
Bernatowska-Matuszkiewicz, E.7
Chessa, L.8
Lee, E.Y.-H.P.9
Gatti, R.A.10
-
26
-
-
17344370225
-
Genotype-phenotype relationships in ataxia-telangiectasia and variants
-
DOI 10.1086/301755
-
Genotype-phenotype relationships in ataxia-telangiectasia and variants. Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A, Am J Hum Genet 1998 62 3 551 61 (Pubitemid 28164612)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.3
, pp. 551-561
-
-
Gilad, S.1
Chessa, L.2
Khosravi, R.3
Russell, P.4
Galanty, Y.5
Piane, M.6
Gatti, R.A.7
Jorgensen, T.J.8
Shiloh, Y.9
Bar-Shira, A.10
-
27
-
-
33745775397
-
Survival probability in ataxia telangiectasia
-
DOI 10.1136/adc.2006.094268
-
Survival probability in ataxia telangiectasia. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM, Arch Dis Child 2006 91 7 610 1 (Pubitemid 44023364)
-
(2006)
Archives of Disease in Childhood
, vol.91
, Issue.7
, pp. 610-611
-
-
Crawford, T.O.1
Skolasky, R.L.2
Fernandez, R.3
Rosquist, K.J.4
Lederman, H.M.5
-
28
-
-
0026409331
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia. Swift M, Morrell D, Massey RB, Chase CL, N Engl J Med 1991 325 26 1831 6
-
(1991)
N Engl J Med
, vol.325
, Issue.26
, pp. 1831-1836
-
-
Swift, M.1
Morrell, D.2
Massey, R.B.3
Chase, C.L.4
|