-
1
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
1:CAS:528:DyaK1MXitlGmtLk%3D 10199409
-
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo A-M, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ:Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999, 97: 133-144. 10.1016/S0092-8674(00)80721-7.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.M.4
Ogunkolade, B.W.5
Centola, M.6
Mansfield, E.7
Gadina, M.8
Karenko, L.9
Pettersson, T.10
McCarthy, J.11
Frucht, D.M.12
Aringer, M.13
Torosyan, Y.14
Teppo, A.-M.15
Wilson, M.16
Karaarslan, H.M.17
Wan, Y.18
Todd, I.19
Wood, G.20
Schlimgen, R.21
Kumarajeewa, T.R.22
Cooper, S.M.23
Vella, J.P.24
Amos, C.I.25
Mulley, J.26
Quane, K.A.27
Molloy, M.G.28
Ranki, A.29
Powell, R.J.30
more..
-
2
-
-
77950363011
-
Autoinflammatory disease reloaded: a clinical perspective
-
3541025 1:CAS:528:DC%2BC3cXlsVSgurk%3D 20303869
-
Kastner DL, Aksentijevich I, Goldbach-Mansky R: Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010, 140: 784-790. 10.1016/j.cell.2010.03.002.
-
(2010)
Cell
, vol.140
, pp. 784-790
-
-
Kastner, D.L.1
Aksentijevich, I.2
Goldbach-Mansky, R.3
-
3
-
-
0037249569
-
INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations
-
de Sarrauste Menthiere C, Terrierre S, Pugnere D, Ruiz M, Demaille J, Touitou I: INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res. 2003, 31: 282-285. 10.1093/nar/gkg031.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 282-285
-
-
De Sarrauste Menthiere, C.1
Terrierre, S.2
Pugnere, D.3
Ruiz, M.4
Demaille, J.5
Touitou, I.6
-
4
-
-
77955072067
-
Periodic fever syndrome and autoinflammatory diseases
-
Dickie LJ, Savic S, Aziz A, Sprakes M, McDermott MF: Periodic fever syndrome and autoinflammatory diseases. F1000 med reports. 2010, 2: 3-
-
(2010)
F1000 med reports
, vol.2
, pp. 3
-
-
Dickie, L.J.1
Savic, S.2
Aziz, A.3
Sprakes, M.4
McDermott, M.F.5
-
5
-
-
19244362693
-
Localization of the familial mediterranean fever gene to a 250-kb interval in non Ashkenazi Jewish founder haplotypes
-
French F.M.F.Consortium
-
French F.M.F.Consortium:Localization of the familial mediterranean fever gene to a 250-kb interval in non Ashkenazi Jewish founder haplotypes. Am J Hum Genet. 1996, 59: 603-612.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 603-612
-
-
-
6
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
French F.M.F.Consortium
-
French F.M.F.Consortium: A candidate gene for familial Mediterranean fever. Nat gene. 1997, 17: 25-31.
-
(1997)
Nat gene
, vol.17
, pp. 25-31
-
-
-
7
-
-
0031925542
-
Gene localization for an autosomal dominant familial periodic fever to 12p13
-
1:CAS:528:DyaK1cXlvVahsLw%3D
-
Mulley J, Saar K, Hewitt G, Ruschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M: Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Human Gene. 1998, 62: 884-889. 10.1086/301793.
-
(1998)
Am J Human Gene
, vol.62
, pp. 884-889
-
-
Mulley, J.1
Saar, K.2
Hewitt, G.3
Ruschendorf, F.4
Phillips, H.5
Colley, A.6
Sillence, D.7
Reis, A.8
Wilson, M.9
-
8
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
-
1:CAS:528:DyaK1MXjvVelsbc%3D
-
Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JGN, Beckmann JS, van der Meer JWM, Delpech M: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nature genetics. 1999, 22: 178-181. 10.1038/9696.
-
(1999)
Nature genetics
, vol.22
, pp. 178-181
-
-
Drenth, J.P.H.1
Cuisset, L.2
Grateau, G.3
Vasseur, C.4
Van de Velde-Visser, S.D.5
De Jong, J.G.N.6
Beckmann, J.S.7
Van der Meer, J.W.M.8
Delpech, M.9
-
9
-
-
0033358561
-
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
-
1288238 1:STN:280:DC%2BD3cvnsFelsw%3D%3D, 10486324
-
Cuisset L, Drenth JPH, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DGI, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G: Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44. Am J Hum Genet. 1999, 65: 1054-1059. 10.1086/302589.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1054-1059
-
-
Cuisset, L.1
Drenth, J.P.H.2
Berthelot, J.M.3
Meyrier, A.4
Vaudour, G.5
Watts, R.A.6
Scott, D.G.I.7
Nicholls, A.8
Pavek, S.9
Vasseur, C.10
Beckmann, J.S.11
Delpech, M.12
Grateau, G.13
-
10
-
-
0033940611
-
Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria
-
1378006 1:CAS:528:DC%2BD3cXntV2iu7g%3D 10741953
-
Hoffman HM, Wright FA, Broide DH, Wanderer AA, Kolodner RD: Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria. Am J Hum Genet. 2000, 66: 1693-1698. 10.1086/302874.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1693-1698
-
-
Hoffman, H.M.1
Wright, F.A.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
11
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
1:CAS:528:DC%2BD38Xlt1Krtrs%3D
-
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, Basile GS: Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Human Gene. 2002, 71: 198-203. 10.1086/341357.
-
(2002)
Am J Human Gene
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
Teillac-Hamel, D.7
Fischer, A.8
Basile, G.S.9
-
12
-
-
19244364857
-
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16
-
1914842 1:CAS:528:DyaK28XmvFyks7g%3D 8900239
-
Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiano A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S:Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet. 1996, 59: 1097-
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1097
-
-
Tromp, G.1
Kuivaniemi, H.2
Raphael, S.3
Ala-Kokko, L.4
Christiano, A.5
Considine, E.6
Dhulipala, R.7
Hyland, J.8
Jokinen, A.9
Kivirikko, S.10
-
13
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
1:CAS:528:DC%2BD3MXmvFGmsrk%3D 10.1038/ng720 11528384
-
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot JP: CARD15 mutations in Blau syndrome. Nat Genet. 2001, 29: 19-20. 10.1038/ng720.
-
(2001)
Nat Genet
, vol.29
, pp. 19-20
-
-
Miceli-Richard, C.1
Lesage, S.2
Rybojad, M.3
Prieur, A.M.4
Manouvrier-Hanu, S.5
Häfner, R.6
Chamaillard, M.7
Zouali, H.8
Thomas, G.9
Hugot, J.P.10
-
14
-
-
0034977079
-
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
-
1:CAS:528:DC%2BD3MXktFOrtL4%3D 11381256
-
Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, DoAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E: Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001, 28: 125-126. 10.1038/88832.
-
(2001)
Nat Genet
, vol.28
, pp. 125-126
-
-
Ueki, Y.1
Tiziani, V.2
Santanna, C.3
Fukai, N.4
Maulik, C.5
Garfinkle, J.6
Ninomiya, C.7
DoAmaral, C.8
Peters, H.9
Habal, M.10
Rhee-Morris, L.11
Doss, J.B.12
Kreiborg, S.13
Olsen, B.R.14
Reichenberger, E.15
-
15
-
-
0033362453
-
The gene for Cherubism maps to chromosome 4p16
-
1378086 1:CAS:528:DyaK1MXltlOnsrw%3D 10364528
-
Tiziani V, Reichenberger E, Buzzo CL, Niazi S, Fukai N, Stiller M, Peters H, Salzano FM, Amaral CM R d, Olsen BR:The gene for Cherubism maps to chromosome 4p16. Am J Hum Genet. 1999, 65: 158-166. 10.1086/302456.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 158-166
-
-
Tiziani, V.1
Reichenberger, E.2
Buzzo, C.L.3
Niazi, S.4
Fukai, N.5
Stiller, M.6
Peters, H.7
Salzano, F.M.8
Amaral CM, R.D.9
Olsen, B.R.10
-
16
-
-
0033362150
-
The gene for Cherubism maps to chromosome 4p16.3
-
1378085 1:CAS:528:DyaK1MXltlOnsr8%3D 10364527
-
Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR:The gene for Cherubism maps to chromosome 4p16.3. Am J Hum Genet. 1999, 65: 151-157. 10.1086/302454.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 151-157
-
-
Mangion, J.1
Rahman, N.2
Edkins, S.3
Barfoot, R.4
Nguyen, T.5
Sigurdsson, A.6
Townend, J.V.7
Fitzpatrick, D.R.8
Flanagan, A.M.9
Stratton, M.R.10
-
17
-
-
0037091012
-
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
-
1:CAS:528:DC%2BD38XjtlGktrk%3D 11971877
-
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002, 11: 961-969. 10.1093/hmg/11.8.961.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 961-969
-
-
Wise, C.A.1
Gillum, J.D.2
Seidman, C.E.3
Lindor, N.M.4
Veile, R.5
Bashiardes, S.6
Lovett, M.7
-
18
-
-
0033695228
-
Localization of a gene for familial recurrent arthritis
-
1:CAS:528:DC%2BD3cXnt1KnsL4%3D 11014354
-
Wise CA, Bennett LB, Pascual V, Gillum JD, Bowcock AM: Localization of a gene for familial recurrent arthritis. Arthritis Rheum. 2000, 43: 2041-2045. 10.1002/1529-0131(200009)43:9<2041::AID-ANR15>3.0.CO;2-G.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 2041-2045
-
-
Wise, C.A.1
Bennett, L.B.2
Pascual, V.3
Gillum, J.D.4
Bowcock, A.M.5
-
19
-
-
0033912687
-
Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q
-
1:CAS:528:DC%2BD3cXntV2isLY%3D
-
Yeon HB, Lindor NM, Seidman JG, Seidman CE: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q. Am J Human Gene. 2000, 66: 1443-1448. 10.1086/302866.
-
(2000)
Am J Human Gene
, vol.66
, pp. 1443-1448
-
-
Yeon, H.B.1
Lindor, N.M.2
Seidman, J.G.3
Seidman, C.E.4
-
20
-
-
19944431022
-
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappa B activation: common genetic etiology with Blau syndrome
-
1:CAS:528:DC%2BD2MXhtFCgt7g%3D 15459013
-
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y: Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappa B activation: common genetic etiology with Blau syndrome. Blood. 2005, 105: 1195-1197.
-
(2005)
Blood
, vol.105
, pp. 1195-1197
-
-
Kanazawa, N.1
Okafuji, I.2
Kambe, N.3
Nishikomori, R.4
Nakata-Hizume, M.5
Nagai, S.6
Fuji, A.7
Yuasa, T.8
Manki, A.9
Sakurai, Y.10
Nakajima, M.11
Kobayashi, H.12
Fujiwara, I.13
Tsutsumi, H.14
Utani, A.15
Nishigori, C.16
Heike, T.17
Nakahata, T.18
Miyachi, Y.19
-
21
-
-
1842740034
-
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation
-
1:CAS:528:DC%2BD2cXjt1Smsb8%3D 15086578
-
Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y: Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol. 2004, 122: 851-852. 10.1111/j.0022-202X.2004.22341.x.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 851-852
-
-
Kanazawa, N.1
Matsushima, S.2
Kambe, N.3
Tachibana, T.4
Nagai, S.5
Miyachi, Y.6
-
22
-
-
22244469461
-
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
-
1736104 1:CAS:528:DC%2BD2MXnsVehsLY%3D 15994876
-
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H: Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005, 42: 551-557. 10.1136/jmg.2005.030759.
-
(2005)
J Med Genet
, vol.42
, pp. 551-557
-
-
Ferguson, P.J.1
Chen, S.2
Tayeh, M.K.3
Ochoa, L.4
Leal, S.M.5
Pelet, A.6
Munnich, A.7
Lyonnet, S.8
Majeed, H.A.9
El-Shanti, H.10
-
23
-
-
0033024292
-
Genetic Mapping of a Maternal Locus Responsible for Familial Hydatidiform Moles
-
1:CAS:528:DyaK1MXitlGns78%3D 10.1093/hmg/8.4.667 10072436
-
Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R: Genetic Mapping of a Maternal Locus Responsible for Familial Hydatidiform Moles. Hum Mol Genet. 1999, 8: 667-10.1093/hmg/8.4.667.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 667
-
-
Moglabey, Y.B.1
Kircheisen, R.2
Seoud, M.3
El Mogharbel, N.4
Van Den Veyver, I.5
Slim, R.6
-
24
-
-
33644615366
-
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
-
1:CAS:528:DC%2BD28XhslCjtrk%3D 10.1038/ng1740 16462743
-
Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B:Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006, 38: 300-302. 10.1038/ng1740.
-
(2006)
Nat Genet
, vol.38
, pp. 300-302
-
-
Murdoch, S.1
Djuric, U.2
Mazhar, B.3
Seoud, M.4
Khan, R.5
Kuick, R.6
Bagga, R.7
Kircheisen, R.8
Ao, A.9
Ratti, B.10
-
25
-
-
40349113175
-
Mutations in NALP12 cause hereditary periodic fever syndromes
-
2234193 1:CAS:528:DC%2BD1cXhvFCitbg%3D 10.1073/pnas.0708616105 18230725
-
Jeru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S:Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci. 2008, 105: 1614-1619. 10.1073/pnas.0708616105.
-
(2008)
Proc Natl Acad Sci
, vol.105
, pp. 1614-1619
-
-
Jeru, I.1
Duquesnoy, P.2
Fernandes-Alnemri, T.3
Cochet, E.4
Yu, J.W.5
Lackmy-Port-Lis, M.6
Grimprel, E.7
Landman-Parker, J.8
Hentgen, V.9
Marlin, S.10
McElreavey, K.11
Sarkisian, T.12
Grateau, G.13
Alnemri, E.S.14
Amselem, S.15
-
26
-
-
66649121678
-
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
-
2876877 1:CAS:528:DC%2BD1MXntVWnurc%3D 10.1056/NEJMoa0807865 19494218
-
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M:An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009, 360: 2426-2437. 10.1056/NEJMoa0807865.
-
(2009)
N Engl J Med
, vol.360
, pp. 2426-2437
-
-
Aksentijevich, I.1
Masters, S.L.2
Ferguson, P.J.3
Dancey, P.4
Frenkel, J.5
Van Royen-Kerkhoff, A.6
Laxer, R.7
Tedgard, U.8
Cowen, E.W.9
Pham, T.H.10
Booty, M.11
Estes, J.D.12
Sandler, N.G.13
Plass, N.14
Stone, D.L.15
Turner, M.L.16
Hill, S.17
Butman, J.A.18
Schneider, R.19
Babyn, P.20
El-Shanti, H.I.21
Pope, E.22
Barron, K.23
Bing, X.24
Laurence, A.25
Lee, C.C.26
Chapelle, D.27
Clarke, G.I.28
Ohson, K.29
Nicholson, M.30
more..
-
27
-
-
70949087383
-
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
-
2787406 1:CAS:528:DC%2BD1MXhsVequ7bM 10.1056/NEJMoa0907206 19890111
-
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C:Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor. N Engl J Med. 2009, 361: 2033-2045. 10.1056/NEJMoa0907206.
-
(2009)
N Engl J Med
, vol.361
, pp. 2033-2045
-
-
Glocker, E.O.1
Kotlarz, D.2
Boztug, K.3
Gertz, E.M.4
Schaffer, A.A.5
Noyan, F.6
Perro, M.7
Diestelhorst, J.8
Allroth, A.9
Murugan, D.10
Hatscher, N.11
Pfeifer, D.12
Sykora, K.W.13
Sauer, M.14
Kreipe, H.15
Lacher, M.16
Nustede, R.17
Woellner, C.18
Baumann, U.19
Salzer, U.20
Koletzko, S.21
Shah, N.22
Segal, A.W.23
Sauerbrey, A.24
Buderus, S.25
Snapper, S.B.26
Grimbacher, B.27
Klein, C.28
more..
-
28
-
-
77958003426
-
Infant colitis it's in the genes
-
Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B: Infant colitis it's in the genes. The Lancet. 2009, 376: 1272-
-
(2009)
The Lancet
, vol.376
, pp. 1272
-
-
Glocker, E.O.1
Frede, N.2
Perro, M.3
Sebire, N.4
Elawad, M.5
Shah, N.6
Grimbacher, B.7
-
29
-
-
78649775528
-
PSMB8 encoding the B5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
-
2997366 1:CAS:528:DC%2BC3cXhsFags7fO 10.1016/j.ajhg.2010.10.031 21129723
-
Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martinez De Villarreal L, Dos Santos HG, Garg A:PSMB8 encoding the B5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010, 87: 866-872. 10.1016/j.ajhg.2010.10.031.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 866-872
-
-
Agarwal, A.K.1
Xing, C.2
DeMartino, G.N.3
Mizrachi, D.4
Hernandez, M.D.5
Sousa, A.B.6
Martinez De Villarreal, L.7
Dos Santos, H.G.8
Garg, A.9
-
30
-
-
80052565561
-
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
-
3169106 1:CAS:528:DC%2BC3MXhtFyktb7J 10.1073/pnas.1106015108 21852578
-
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K:Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci. 2011, 108: 14914-14919. 10.1073/pnas.1106015108.
-
(2011)
Proc Natl Acad Sci
, vol.108
, pp. 14914-14919
-
-
Arima, K.1
Kinoshita, A.2
Mishima, H.3
Kanazawa, N.4
Kaneko, T.5
Mizushima, T.6
Ichinose, K.7
Nakamura, H.8
Tsujino, A.9
Kawakami, A.10
Matsunaka, M.11
Kasagi, S.12
Kawano, S.13
Kumagai, S.14
Ohmura, K.15
Mimori, T.16
Hirano, M.17
Ueno, S.18
Tanaka, K.19
Tanaka, M.20
Toyoshima, I.21
Sugino, H.22
Yamakawa, A.23
Tanaka, K.24
Niikawa, N.25
Furukawa, F.26
Murata, S.27
Eguchi, K.28
Ida, H.29
Yoshiura, K.30
more..
-
31
-
-
80053397654
-
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
-
3195477 1:CAS:528:DC%2BC3MXht12ht7fM 10.1172/JCI58414 21881205
-
Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K:A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011, 121: 4150-4160. 10.1172/JCI58414.
-
(2011)
J Clin Invest
, vol.121
, pp. 4150-4160
-
-
Kitamura, A.1
Maekawa, Y.2
Uehara, H.3
Izumi, K.4
Kawachi, I.5
Nishizawa, M.6
Toyoshima, Y.7
Takahashi, H.8
Standley, D.M.9
Tanaka, K.10
Hamazaki, J.11
Murata, S.12
Obara, K.13
Toyoshima, I.14
Yasutomo, K.15
-
32
-
-
84856158216
-
Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity
-
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CCR, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A:Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2011, 64: 895-907.
-
(2011)
Arthritis Rheum
, vol.64
, pp. 895-907
-
-
Liu, Y.1
Ramot, Y.2
Torrelo, A.3
Paller, A.S.4
Si, N.5
Babay, S.6
Kim, P.W.7
Sheikh, A.8
Lee, C.C.R.9
Chen, Y.10
Vera, A.11
Zhang, X.12
Goldbach-Mansky, R.13
Zlotogorski, A.14
-
33
-
-
84860390352
-
Interleukin-36 Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
-
1:CAS:528:DC%2BC3MXhtVKnu73O 10.1056/NEJMoa1013068 21848462
-
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A:Interleukin-36 Receptor Antagonist Deficiency and Generalized Pustular Psoriasis. N Engl J Med. 2011, 365: 620-628. 10.1056/NEJMoa1013068.
-
(2011)
N Engl J Med
, vol.365
, pp. 620-628
-
-
Marrakchi, S.1
Guigue, P.2
Renshaw, B.R.3
Puel, A.4
Pei, X.Y.5
Fraitag, S.6
Zribi, J.7
Bal, E.8
Cluzeau, C.9
Chrabieh, M.10
Towne, J.E.11
Douangpanya, J.12
Pons, C.13
Mansour, S.14
Serre, V.15
Makni, H.16
Mahfoudh, N.17
Fakhfakh, F.18
Bodemer, C.19
Feingold, J.20
Hadj-Rabia, S.21
Favre, M.22
Genin, E.23
Sahbatou, M.24
Munnich, A.25
Casanova, J.L.26
Sims, J.E.27
Turki, H.28
Bachelez, H.29
Smahi, A.30
more..
-
34
-
-
80052744921
-
Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
-
3169817 1:CAS:528:DC%2BC3MXhtFGlsbnN 10.1016/j.ajhg.2011.07.022 21839423
-
Onoufriadis A, Simpson M, Pink A, Di-áMeglio P, Smith C, Pullabhatla V, Knight J, Spain S, Nestle F, Burden A, Capon F, Trembath R, Barker J:Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis. Am J Hum Genet. 2011, 89: 432-437. 10.1016/j.ajhg.2011.07.022.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 432-437
-
-
Onoufriadis, A.1
Simpson, M.2
Pink, A.3
Di-ÁMeglio, P.4
Smith, C.5
Pullabhatla, V.6
Knight, J.7
Spain, S.8
Nestle, F.9
Burden, A.10
Capon, F.11
Trembath, R.12
Barker, J.13
-
35
-
-
84867255789
-
A hypermorphic missense mutation in PLCG2, encoding phospholipase C gamma 2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
-
3484656 1:CAS:528:DC%2BC38Xhtl2kt7jL 10.1016/j.ajhg.2012.08.006 23000145
-
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins M, Bunney T, Santich B, Moir S, Kuhns D, Priel D, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner D, Aksentijevich I:A hypermorphic missense mutation in PLCG2, encoding phospholipase C gamma 2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012, 91: 713-720. 10.1016/j.ajhg.2012.08.006.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 713-720
-
-
Zhou, Q.1
Lee, G.S.2
Brady, J.3
Datta, S.4
Katan, M.5
Sheikh, A.6
Martins, M.7
Bunney, T.8
Santich, B.9
Moir, S.10
Kuhns, D.11
Priel, D.12
Ombrello, A.13
Stone, D.14
Ombrello, M.J.15
Khan, J.16
Milner, J.D.17
Kastner, D.18
Aksentijevich, I.19
-
36
-
-
84869429707
-
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
-
3514453 1:CAS:528:DC%2BC38XhsFOmtLrO 10.1038/ni.2457 23104095
-
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israel L, Trevejo-Nunez G, Bogunovic D:Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012, 13: 1178-1186. 10.1038/ni.2457.
-
(2012)
Nat Immunol
, vol.13
, pp. 1178-1186
-
-
Boisson, B.1
Laplantine, E.2
Prando, C.3
Giliani, S.4
Israelsson, E.5
Xu, Z.6
Abhyankar, A.7
Israel, L.8
Trevejo-Nunez, G.9
Bogunovic, D.10
-
37
-
-
84863980712
-
Familial Pityriasis Rubra Pilaris is caused by mutations in CARD14
-
3397268 1:CAS:528:DC%2BC38XovVahsLo%3D 10.1016/j.ajhg.2012.05.010 22703878
-
Fuchs-Telem D, Sarig O, Van-áSteensel M, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E:Familial Pityriasis Rubra Pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012, 91: 163-170. 10.1016/j.ajhg.2012.05.010.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 163-170
-
-
Fuchs-Telem, D.1
Sarig, O.2
Van-ÁSteensel, M.3
Isakov, O.4
Israeli, S.5
Nousbeck, J.6
Richard, K.7
Winnepenninckx, V.8
Vernooij, M.9
Shomron, N.10
Uitto, J.11
Fleckman, P.12
Richard, G.13
Sprecher, E.14
-
38
-
-
84860770362
-
PSORS2 is due to mutations in CARD14
-
3376640 1:CAS:528:DC%2BC38XlvFylsb4%3D 10.1016/j.ajhg.2012.03.012 22521418
-
Jordan CT, Cao L, Roberson E, Pierson K, Yang CF, Joyce C, Ryan C, Duan S, Helms C, Liu Y, Chen Y, McBride A, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes M, Bowcock A:PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012, 90: 784-795. 10.1016/j.ajhg.2012.03.012.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 784-795
-
-
Jordan, C.T.1
Cao, L.2
Roberson, E.3
Pierson, K.4
Yang, C.F.5
Joyce, C.6
Ryan, C.7
Duan, S.8
Helms, C.9
Liu, Y.10
Chen, Y.11
McBride, A.12
Hwu, W.L.13
Wu, J.Y.14
Chen, Y.T.15
Menter, A.16
Goldbach-Mansky, R.17
Lowes, M.18
Bowcock, A.19
-
39
-
-
0026653798
-
Mapping of a gene causing Familial Mediterranean Fever to the short arm of chromosome 16
-
1:STN:280:DyaK383lt1yksw%3D%3D 10.1056/NEJM199206043262301 1579134
-
Pras E, Aksentijevich I, Gruberg L, Balow JE, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL:Mapping of a gene causing Familial Mediterranean Fever to the short arm of chromosome 16. N Engl J Med. 1992, 326: 1509-1513. 10.1056/NEJM199206043262301.
-
(1992)
N Engl J Med
, vol.326
, pp. 1509-1513
-
-
Pras, E.1
Aksentijevich, I.2
Gruberg, L.3
Balow, J.E.4
Prosen, L.5
Dean, M.6
Steinberg, A.D.7
Pras, M.8
Kastner, D.L.9
-
40
-
-
0028110433
-
The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families
-
1:CAS:528:DyaK2MXivFWnsLg%3D 7959700
-
Pras E, Aksentijevich I, Levy E, Gruberg L, Prosen L, Dean M, Pras M, Kastner D: The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. Hum Genet. 1994, 94: 576-577.
-
(1994)
Hum Genet
, vol.94
, pp. 576-577
-
-
Pras, E.1
Aksentijevich, I.2
Levy, E.3
Gruberg, L.4
Prosen, L.5
Dean, M.6
Pras, M.7
Kastner, D.8
-
41
-
-
0027082844
-
Mapping of the familial Mediterranean fever gene to chromosome 16
-
1:STN:280:DyaK3s7lvFKjtQ%3D%3D 10.1111/j.1600-0897.1992.tb00803.x 1285890
-
Gruberg L, Aksentijevich I, Pras E, Kastner DL, Pras M: Mapping of the familial Mediterranean fever gene to chromosome 16. Am J Reprod Immunol. 1992, 28: 241-10.1111/j.1600-0897.1992.tb00803.x.
-
(1992)
Am J Reprod Immunol
, vol.28
, pp. 241
-
-
Gruberg, L.1
Aksentijevich, I.2
Pras, E.3
Kastner, D.L.4
Pras, M.5
-
42
-
-
11944268511
-
The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity
-
1682901 1:CAS:528:DyaK3sXhvVCrsLg%3D 1463015
-
Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI:The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet. 1992, 51: 1349-
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1349
-
-
Shohat, M.1
Bu, X.2
Shohat, T.3
Fischel-Ghodsian, N.4
Magal, N.5
Nakamura, Y.6
Schwabe, A.D.7
Schlezinger, M.8
Danon, Y.9
Rotter, J.I.10
-
43
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
The International F.M.F.Consortium 10.1016/S0092-8674(00)80539-5
-
The International F.M.F.Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997, 90: 797-807. 10.1016/S0092-8674(00)80539-5.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
44
-
-
17344369486
-
Linkage of Familial Hibernian Fever to Chromosome 12p13
-
1377165 1:CAS:528:DyaK1cXlslCiu7g%3D 10.1086/301886 9585614
-
McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RJ, Amos CI, Hitman GA:Linkage of Familial Hibernian Fever to Chromosome 12p13. Am J Hum Genet. 1998, 62: 1446-1451. 10.1086/301886.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1446-1451
-
-
McDermott, M.F.1
Ogunkolade, B.W.2
McDermott, E.M.3
Jones, L.C.4
Wan, Y.5
Quane, K.A.6
McCarthy, J.7
Phelan, M.8
Molloy, M.G.9
Powell, R.J.10
Amos, C.I.11
Hitman, G.A.12
-
45
-
-
80855144107
-
Genome-wide association studies in Behcet's disease: expectations and promises
-
21968232
-
Gul A: Genome-wide association studies in Behcet's disease: expectations and promises. Clin Exp Rheumatol. 2011, 29: S3-S5.
-
(2011)
Clin Exp Rheumatol
, vol.29
, pp. S3-S5
-
-
Gul, A.1
-
46
-
-
79954479289
-
Genome-wide association studies and Crohns disease
-
1:CAS:528:DC%2BC3MXjvFejtLg%3D 10.1093/bfgp/elr009 21436303
-
Lee JC, Parkes M: Genome-wide association studies and Crohns disease. Brief Funct Genomics. 2011, 10: 71-76. 10.1093/bfgp/elr009.
-
(2011)
Brief Funct Genomics
, vol.10
, pp. 71-76
-
-
Lee, J.C.1
Parkes, M.2
-
47
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
2855889 1:CAS:528:DC%2BC3cXjvFKqu78%3D 10.1038/nmeth0410-248 20354512
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7: 248-249. 10.1038/nmeth0410-248.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
48
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
1:CAS:528:DC%2BC3cXpsFWksLo%3D 10.1038/nmeth0810-575 20676075
-
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010, 7: 575-576. 10.1038/nmeth0810-575.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
49
-
-
84861819490
-
Detection of identity by descent using next-generation whole genome sequencing data
-
3403908 1:CAS:528:DC%2BC38XhtFamsrnI 10.1186/1471-2105-13-121 22672699
-
Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E: Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics. 2012, 13: 121-10.1186/1471-2105-13-121.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. 121
-
-
Su, S.Y.1
Kasberger, J.2
Baranzini, S.3
Byerley, W.4
Liao, W.5
Oksenberg, J.6
Sherr, E.7
Jorgenson, E.8
-
50
-
-
84862600977
-
Next-generation sequencing approaches for genetic mapping of complex diseases
-
1:CAS:528:DC%2BC38XhsVaqtbc%3D 10.1016/j.jneuroim.2011.12.017 22285396
-
Casals F, Idaghdour Y, Hussin J, Awadalla P: Next-generation sequencing approaches for genetic mapping of complex diseases. J Neuroimmunol. 2012, 248: 10-22. 10.1016/j.jneuroim.2011.12.017.
-
(2012)
J Neuroimmunol
, vol.248
, pp. 10-22
-
-
Casals, F.1
Idaghdour, Y.2
Hussin, J.3
Awadalla, P.4
-
51
-
-
84880617946
-
Association between variants of PRDM1 and NDP52 and Crohns disease, based on exome sequencing and functional studies
-
3753067 1:CAS:528:DC%2BC3sXhtFynt7zE 10.1053/j.gastro.2013.04.040 23624108
-
Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Hasler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S:Association between variants of PRDM1 and NDP52 and Crohns disease, based on exome sequencing and functional studies. Gastroenterology. 2013, 145: 339-347. 10.1053/j.gastro.2013.04.040.
-
(2013)
Gastroenterology
, vol.145
, pp. 339-347
-
-
Ellinghaus, D.1
Zhang, H.2
Zeissig, S.3
Lipinski, S.4
Till, A.5
Jiang, T.6
Stade, B.7
Bromberg, Y.8
Ellinghaus, E.9
Keller, A.10
Rivas, M.A.11
Skieceviciene, J.12
Doncheva, N.T.13
Liu, X.14
Liu, Q.15
Jiang, F.16
Forster, M.17
Mayr, G.18
Albrecht, M.19
Hasler, R.20
Boehm, B.O.21
Goodall, J.22
Berzuini, C.R.23
Lee, J.24
Andersen, V.25
Vogel, U.26
Kupcinskas, L.27
Kayser, M.28
Krawczak, M.29
Nikolaus, S.30
more..
-
52
-
-
80155148684
-
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study
-
3498501 1:CAS:528:DC%2BC3MXhtlOksLnP 10.1002/art.30512 21702021
-
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R:High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011, 63: 3625-3632. 10.1002/art.30512.
-
(2011)
Arthritis Rheum
, vol.63
, pp. 3625-3632
-
-
Tanaka, N.1
Izawa, K.2
Saito, M.K.3
Sakuma, M.4
Oshima, K.5
Ohara, O.6
Nishikomori, R.7
Morimoto, T.8
Kambe, N.9
Goldbach-Mansky, R.10
-
53
-
-
84856200151
-
Exome sequencing: dual role as a discovery and diagnostic tool
-
1:CAS:528:DC%2BC38XhtFCqsbY%3D 10.1002/ana.22647 22275248
-
Ku C-S, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R: Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012, 71: 5-14. 10.1002/ana.22647.
-
(2012)
Ann Neurol
, vol.71
, pp. 5-14
-
-
Ku, C.-S.1
Cooper, D.N.2
Polychronakos, C.3
Naidoo, N.4
Wu, M.5
Soong, R.6
-
54
-
-
84859610203
-
Return of results: not that complicated?
-
10.1038/gim.2012.8 22481183
-
Evans JP, Rothschild BB: Return of results: not that complicated?. Genet Med. 2012, 14: 358-360. 10.1038/gim.2012.8.
-
(2012)
Genet Med
, vol.14
, pp. 358-360
-
-
Evans, J.P.1
Rothschild, B.B.2
|