-
1
-
-
0028064998
-
An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
-
Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 8:83-87
-
(1994)
Nat Genet
, vol.8
, pp. 83-87
-
-
Aaltonen, J.1
Björses, P.2
Sandkuijl, L.3
Perheentupa, J.4
Peltonen, L.5
-
2
-
-
0018901255
-
H gene theory of inherited autoimmune disease
-
Adams DD, Knight JG (1980) H gene theory of inherited autoimmune disease. Lancet 1:396-398
-
(1980)
Lancet
, vol.1
, pp. 396-398
-
-
Adams, D.D.1
Knight, J.G.2
-
3
-
-
0021807826
-
Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): Autosomal recessive inheritance
-
Ahonen P (1985) Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet 27:535-542
-
(1985)
Clin Genet
, vol.27
, pp. 535-542
-
-
Ahonen, P.1
-
4
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New Engl J Med 322:1829-1836
-
(1990)
New Engl J Med
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Myllärniemi, S.2
Sipilä, I.3
Perheentupa, J.4
-
5
-
-
0029836686
-
Genetic homogeneity of autoimmune polyglandular disease type I
-
Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorweg-Nijman JJ, Mathivon L, Mullis PE, Pohl M, Ritzen M, Romeo G, Shapiro MS, Smith CS, Solyom J, Zlotogora J, Peltonen L (1996) Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet 59:879-886
-
(1996)
Am J Hum Genet
, vol.59
, pp. 879-886
-
-
Björses, P.1
Aaltonen, J.2
Vikman, A.3
Perheentupa, J.4
Ben-Zion, G.5
Chiumello, G.6
Dahl, N.7
Heideman, P.8
Hoorweg-Nijman, J.J.9
Mathivon, L.10
Mullis, P.E.11
Pohl, M.12
Ritzen, M.13
Romeo, G.14
Shapiro, M.S.15
Smith, C.S.16
Solyom, J.17
Zlotogora, J.18
Peltonen, L.19
-
6
-
-
0030689816
-
Sardinia: A battlefield approach to type I diabetes epidemiology
-
Sardinia-IDDM Study Groups
-
Bottazzo GF, Cossu E, Cirillo R, Loviselli A, Velluzzi F, Mariotti S, Balestrieri A, Delitala G, Sepe V, Songini M (1997) Sardinia: a battlefield approach to type I diabetes epidemiology. Sardinia-IDDM Study Groups. Horm Res 48 Suppl 4:64-66
-
(1997)
Horm Res
, vol.48
, Issue.SUPPL. 4
, pp. 64-66
-
-
Bottazzo, G.F.1
Cossu, E.2
Cirillo, R.3
Loviselli, A.4
Velluzzi, F.5
Mariotti, S.6
Balestrieri, A.7
Delitala, G.8
Sepe, V.9
Songini, M.10
-
7
-
-
0028385688
-
William Allan award address
-
Cao A (1994) William Allan award address. Am J Hum Genet 54:397-402
-
(1994)
Am J Hum Genet
, vol.54
, pp. 397-402
-
-
Cao, A.1
-
9
-
-
0030919380
-
Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1
-
Clemente MG, Obermayer-Straub P, Meloni A, Strassburg CP, Arangino V, Tukey RH, Virgiliis S de, Manns MP (1997) Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 82:1353-1361
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1353-1361
-
-
Clemente, M.G.1
Obermayer-Straub, P.2
Meloni, A.3
Strassburg, C.P.4
Arangino, V.5
Tukey, R.H.6
De Virgiliis, S.7
Manns, M.P.8
-
10
-
-
0028183184
-
HLA-DQB10305 and DQB 10304 alleles among Sardinians. Evolutionary and practi- Cal implications for oligotyping
-
Cucca F, Frau F, Lampis R, Floris M, Argiolas L, Macis D, Cao A, Virgiliis S De, Congia M (1994) HLA-DQB10305 and DQB 10304 alleles among Sardinians. Evolutionary and practi- cal implications for oligotyping. Hum Immunol 40:143-149
-
(1994)
Hum Immunol
, vol.40
, pp. 143-149
-
-
Cucca, F.1
Frau, F.2
Lampis, R.3
Floris, M.4
Argiolas, L.5
Macis, D.6
Cao, A.7
De Virgiliis, S.8
Congia, M.9
-
11
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
Finnish-German APECED Consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403.
-
(1997)
Nat Genet
, vol.17
, pp. 399-403
-
-
-
12
-
-
0030828850
-
Estimating the age of mutant disease alleles based on linkage disequilibrium
-
Guo SW, Xiong M (1997) Estimating the age of mutant disease alleles based on linkage disequilibrium. Hum Hered 47:315-337
-
(1997)
Hum Hered
, vol.47
, pp. 315-337
-
-
Guo, S.W.1
Xiong, M.2
-
13
-
-
0031033052
-
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
-
Husebye ES, Gebre-Medhin G, Tuomi T, Perheentupa J, Landin-Olsson M, Gustafsson J, Rorsman F, Kampe O (1997) Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 82:147-150
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 147-150
-
-
Husebye, E.S.1
Gebre-Medhin, G.2
Tuomi, T.3
Perheentupa, J.4
Landin-Olsson, M.5
Gustafsson, J.6
Rorsman, F.7
Kampe, O.8
-
14
-
-
0030606310
-
Organ-specific disease provoked by systemic autoimmunity
-
Kouskoff V, Korganow AS, Duchatelle V, Degott C, Benoist C, Mathis D (1996) Organ-specific disease provoked by systemic autoimmunity. Cell 87:811-822
-
(1996)
Cell
, vol.87
, pp. 811-822
-
-
Kouskoff, V.1
Korganow, A.S.2
Duchatelle, V.3
Degott, C.4
Benoist, C.5
Mathis, D.6
-
15
-
-
0026552977
-
Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase
-
Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K (1992) Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase. Lancet 339:770-773
-
(1992)
Lancet
, vol.339
, pp. 770-773
-
-
Krohn, K.1
Uibo, R.2
Aavik, E.3
Peterson, P.4
Savilahti, K.5
-
16
-
-
0027308708
-
A linkage map of human chromosome 21: 43 PCR markers at average intervals of 2.5 cM
-
McInnis MG, Chakravarti A, Blaschak J, Petersen MB, Sharma V, Avramopoulos D, Blouin JL, Konig U, Brahe C, Matise TC, et al (1993) A linkage map of human chromosome 21: 43 PCR markers at average intervals of 2.5 cM. Genomics 16:562-571
-
(1993)
Genomics
, vol.16
, pp. 562-571
-
-
McInnis, M.G.1
Chakravarti, A.2
Blaschak, J.3
Petersen, M.B.4
Sharma, V.5
Avramopoulos, D.6
Blouin, J.L.7
Konig, U.8
Brahe, C.9
Matise, T.C.10
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215-1216
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215-1216
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
16944367194
-
Positional cloning of the APECED gene
-
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn K, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17:393-398
-
(1997)
Nat Genet
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
Krohn, K.7
Lalioti, M.D.8
Mullis, P.E.9
Antonarakis, S.E.10
Kawasaki, K.11
Asakawa, S.12
Ito, F.13
Shimizu, N.14
-
19
-
-
0024605518
-
Analysis of any point mutation in DNA. the amplification refractory mutation system (ARMS)
-
Newton CR, Graham A, Hepteinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 2503-2516
-
-
Newton, C.R.1
Graham, A.2
Hepteinstall, L.E.3
Powell, S.J.4
Summers, C.5
Kalsheker, N.6
Smith, J.C.7
Markham, A.F.8
-
20
-
-
0030725173
-
The thyrotropin receptor in thyroid diseases
-
Paschke R, Ludgate M (1997) The thyrotropin receptor in thyroid diseases. N Engl J Med 337:1675-1681
-
(1997)
N Engl J Med
, vol.337
, pp. 1675-1681
-
-
Paschke, R.1
Ludgate, M.2
-
22
-
-
0030728920
-
"Mistakes happen": Somatic mutation and disease
-
Qian F, Germino GG (1997) "Mistakes happen": somatic mutation and disease. Am J Hum Genet 61:1000-1005
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1000-1005
-
-
Qian, F.1
Germino, G.G.2
-
23
-
-
0026556474
-
Molecular characterization of β-thalassemia in the Sardinian population
-
Rosatelli MC, Dozy A, Faà V, Meloni A, Sardu L, Saba L, Kan YW, Cao A (1992) Molecular characterization of β-thalassemia in the Sardinian population. Am J Hum Genet 50:422-426
-
(1992)
Am J Hum Genet
, vol.50
, pp. 422-426
-
-
Rosatelli, M.C.1
Dozy, A.2
Faà, V.3
Meloni, A.4
Sardu, L.5
Saba, L.6
Kan, Y.W.7
Cao, A.8
-
24
-
-
0032230236
-
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients of different origins
-
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Romeo A, Seri M, Lerone M, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJE, Antonarakis SE (1998) Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients of different origins. Mol Endocrinol 12:1112-1119
-
(1998)
Mol Endocrinol
, vol.12
, pp. 1112-1119
-
-
Scott, H.S.1
Heino, M.2
Peterson, P.3
Mittaz, L.4
Lalioti, M.D.5
Betterle, C.6
Cohen, A.7
Romeo, A.8
Seri, M.9
Lerone, M.10
Collin, P.11
Salo, M.12
Metcalfe, R.13
Weetman, A.14
Papasavvas, M.P.15
Rossier, C.16
Nagamine, K.17
Kudoh, J.18
Shimizu, N.19
Krohn, K.J.E.20
Antonarakis, S.E.21
more..
-
25
-
-
0030776156
-
Loss of heterozygosity or: How I learned to stop worrying and love mitotic recombination
-
Tischfield JA (1997) Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination. Am J Hum Genet 61:995-999
-
(1997)
Am J Hum Genet
, vol.61
, pp. 995-999
-
-
Tischfield, J.A.1
-
26
-
-
0029988330
-
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with APS1
-
Tuomi T, Bjorses P, Falorni A, Partanen J, Perheentupa J, Lernmark A, Miettinen A (1996) Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with APS1. J Clin Endocrinol Metab 81:1488-1493
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1488-1493
-
-
Tuomi, T.1
Bjorses, P.2
Falorni, A.3
Partanen, J.4
Perheentupa, J.5
Lernmark, A.6
Miettinen, A.7
-
27
-
-
84995870568
-
Auto antibodies to cytochrome P450scc, P450c17 and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease
-
Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn K (1994) Auto antibodies to cytochrome P450scc, P450c17 and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab 78:323-328
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 323-328
-
-
Uibo, R.1
Aavik, E.2
Peterson, P.3
Perheentupa, J.4
Aranko, S.5
Pelkonen, R.6
Krohn, K.7
-
28
-
-
0027161022
-
Mutation of human short tandem repeats
-
Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1123-1128
-
-
Weber, J.L.1
Wong, C.2
-
29
-
-
0026481974
-
Polyglandular autoimmune syndrome type I among Iranian Jews
-
Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824-826
-
(1992)
J Med Genet
, vol.29
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
|