-
1
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome17
-
Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., Snowden J., Adamson J., Sadovnick A.D., Rollinson S., Cannon A., Dwosh E., Neary D., Melquist S., Richardson A., Dickson D., Berger Z., Eriksen J., Robinson T., Zehr C., Dickey C.A., Crook R., McGowan E., Mann D., Boeve B., Feldman H., and Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome17. Nature 442 (2006) 916-919
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
2
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., Rademakers R., Vandenberghe R., Dermaut B., Martin J.J., van Duijn C., Peeters K., Sciot R., Santens P., De Pooter T., Mattheijssens M., Van den Broeck M., Cuijt I., Vennekens K., De Deyn P.P., Kumar-Singh S., and Van Broeckhoven C. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442 (2006) 920-924
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
3
-
-
26444608642
-
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
-
Cruts M., Rademakers R., Gijselinck I., van der Zee J., Dermaut B., de Pooter T., de Rijk P., Del-Favero J., and van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum. Mol. Genet. 13 (2005) 1753-1762
-
(2005)
Hum. Mol. Genet.
, vol.13
, pp. 1753-1762
-
-
Cruts, M.1
Rademakers, R.2
Gijselinck, I.3
van der Zee, J.4
Dermaut, B.5
de Pooter, T.6
de Rijk, P.7
Del-Favero, J.8
van Broeckhoven, C.9
-
4
-
-
0035500899
-
Recent duplication, domain accretion and the dynamic mutation of the human genome
-
Eichler E.E. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet. 17 (2001) 661-669
-
(2001)
Trends Genet.
, vol.17
, pp. 661-669
-
-
Eichler, E.E.1
-
5
-
-
4444248435
-
Clinicopathological correlates in frontotemporal dementia
-
Hodges J.R., Davies R.R., Xuereb J.H., Casey B., Broe M., Bak T.H., Kril J.J., and Halliday G.M. Clinicopathological correlates in frontotemporal dementia. Ann. Neurol. 5 (2004) 399-406
-
(2004)
Ann. Neurol.
, vol.5
, pp. 399-406
-
-
Hodges, J.R.1
Davies, R.R.2
Xuereb, J.H.3
Casey, B.4
Broe, M.5
Bak, T.H.6
Kril, J.J.7
Halliday, G.M.8
-
6
-
-
2542502499
-
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found
-
Johnson J., Ostojic J., Lannfelt L., Glaser A., Basun H., Rogaeva E., Kawarai T., Bruni A., St George Hyslop P.H., Goate A., Pastor P., Chakraverty S., Norton J., Morris J.C., Hardy J., and Singleton A. No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neurosci. Lett. 363 (2004) 99-101
-
(2004)
Neurosci. Lett.
, vol.363
, pp. 99-101
-
-
Johnson, J.1
Ostojic, J.2
Lannfelt, L.3
Glaser, A.4
Basun, H.5
Rogaeva, E.6
Kawarai, T.7
Bruni, A.8
St George Hyslop, P.H.9
Goate, A.10
Pastor, P.11
Chakraverty, S.12
Norton, J.13
Morris, J.C.14
Hardy, J.15
Singleton, A.16
-
7
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid B.M., Schoumans J., Knoers N.V., van Kessel A.G., Sistermans E.A., Veltman J.A., Brunner H.G., and de Vries B.B. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat. Genet. 38 (2006) 999-1001
-
(2006)
Nat. Genet.
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
Schinzel, A.11
Baumer, A.12
Anderlid, B.M.13
Schoumans, J.14
Knoers, N.V.15
van Kessel, A.G.16
Sistermans, E.A.17
Veltman, J.A.18
Brunner, H.G.19
de Vries, B.B.20
more..
-
8
-
-
34548122185
-
-
A. Lladó, R. Sánchez-Valle, M.J. Rey, M. Ezquerra, E. Tolosa, I. Ferrer, J.L. Molinuevo, Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration, J. Neurol., in press.
-
-
-
-
9
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke D.P., Sharp A.J., McCarroll S.A., McGrath S.D., Newman T.L., Cheng Z., Schwartz S., Albertson D.G., Pinkel D., Altshuler D.M., and Eichler E.E. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am. J. Hum. Genet. 79 (2006) 275-290
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
Sharp, A.J.2
McCarroll, S.A.3
McGrath, S.D.4
Newman, T.L.5
Cheng, Z.6
Schwartz, S.7
Albertson, D.G.8
Pinkel, D.9
Altshuler, D.M.10
Eichler, E.E.11
-
10
-
-
33750590113
-
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
-
Mackenzie I.R., Baker M., Pickering-Brown S., Hsiung G.Y., Lindholm C., Dwosh E., Gass J., Cannon A., Rademakers R., Hutton M., and Feldman H.H. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 129 (2006) 3081-3090
-
(2006)
Brain
, vol.129
, pp. 3081-3090
-
-
Mackenzie, I.R.1
Baker, M.2
Pickering-Brown, S.3
Hsiung, G.Y.4
Lindholm, C.5
Dwosh, E.6
Gass, J.7
Cannon, A.8
Rademakers, R.9
Hutton, M.10
Feldman, H.H.11
-
11
-
-
0034764622
-
Report of the work group on frontotemporal dementia and Pick's disease. Clinical and pathological diagnosis of frontotemporal dementia
-
McKhann G.M., Albert M.S., Grossman M., Miller B., Dickson D., and Trojanowski J.Q. Report of the work group on frontotemporal dementia and Pick's disease. Clinical and pathological diagnosis of frontotemporal dementia. Arch. Neurol. 58 (2001) 1803-1809
-
(2001)
Arch. Neurol.
, vol.58
, pp. 1803-1809
-
-
McKhann, G.M.1
Albert, M.S.2
Grossman, M.3
Miller, B.4
Dickson, D.5
Trojanowski, J.Q.6
-
12
-
-
0034756333
-
The genetic and pathological classification of familial frontotemporal dementia
-
Morris H.R., Khan M.N., Janssen J.C., Brown J.M., Perez-Tur J., Baker M., Ozansoy M., Hardy J., Hutton M., Wood N.W., Lees A.J., Revesz T., Lantos P., and Rossor M.N. The genetic and pathological classification of familial frontotemporal dementia. Arch. Neurol. 58 (2001) 1813-1816
-
(2001)
Arch. Neurol.
, vol.58
, pp. 1813-1816
-
-
Morris, H.R.1
Khan, M.N.2
Janssen, J.C.3
Brown, J.M.4
Perez-Tur, J.5
Baker, M.6
Ozansoy, M.7
Hardy, J.8
Hutton, M.9
Wood, N.W.10
Lees, A.J.11
Revesz, T.12
Lantos, P.13
Rossor, M.N.14
-
13
-
-
0031672540
-
Frontotemporal lobar degeneration. A consensus on clinical diagnostic criteria
-
Neary D., Snowden J.S., Gustafson L., Passant U., Stuss D., Black S., Freedman M., Kertesz A., Robert P.H., Albert M., Boone K., Miller B.L., Cummings J., and Benson D.F. Frontotemporal lobar degeneration. A consensus on clinical diagnostic criteria. Neurology 52 (1998) 1546-1554
-
(1998)
Neurology
, vol.52
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
Passant, U.4
Stuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.H.9
Albert, M.10
Boone, K.11
Miller, B.L.12
Cummings, J.13
Benson, D.F.14
-
14
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., Cho E.K., Dallaire S., Freeman J.L., González J.R., Gratacòs M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., and Hurles M.E. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
González, J.R.14
Gratacòs, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
15
-
-
0033070197
-
High prevalence of mutations in the microtubule-associated protein Tau in a population study of frontotemporal dementia in the Netherlands
-
Rizzu P., Van Swieten J.C., Joosse M., Hasegawa M., Stevens M., Tibben A., Niermeijer M.F., Hillebrand M., Ravid R., Oostra B.A., Goedert M., van Duijn C.M., and Heutink P. High prevalence of mutations in the microtubule-associated protein Tau in a population study of frontotemporal dementia in the Netherlands. Am. J. Hum. Genet. 64 (1999) 414-421
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 414-421
-
-
Rizzu, P.1
Van Swieten, J.C.2
Joosse, M.3
Hasegawa, M.4
Stevens, M.5
Tibben, A.6
Niermeijer, M.F.7
Hillebrand, M.8
Ravid, R.9
Oostra, B.A.10
Goedert, M.11
van Duijn, C.M.12
Heutink, P.13
-
16
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux A., Hannequin D., Raux G., Le Meur N., Laquerriere A., Vital A., Dumanchin C., Feuillette S., Brice A., Vercelletto M., Dubas F., Frebourg T., and Campion D. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38 (2006) 24-26
-
(2006)
Nat. Genet.
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Raux, G.3
Le Meur, N.4
Laquerriere, A.5
Vital, A.6
Dumanchin, C.7
Feuillette, S.8
Brice, A.9
Vercelletto, M.10
Dubas, F.11
Frebourg, T.12
Campion, D.13
-
17
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30 (2002) 57
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 57
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
18
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp A.J., Hansen S., Selzer R.R., Cheng Z., Regan R., Hurst J.A., Stewart H., Price S.M., Blair E., Hennekam R.C., Fitzpatrick C.A., Segraves R., Richmond T.A., Guiver C., Albertson D.G., Pinkel D., Eis P.S., Schwartz S., Knight S.J., and Eichler E.E. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38 (2006) 1038-1042
-
(2006)
Nat. Genet.
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
Fitzpatrick, C.A.11
Segraves, R.12
Richmond, T.A.13
Guiver, C.14
Albertson, D.G.15
Pinkel, D.16
Eis, P.S.17
Schwartz, S.18
Knight, S.J.19
Eichler, E.E.20
more..
-
19
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp A.J., Locke D.P., McGrath S.D., Cheng Z., Bailey J.A., Vallente R.U., Pertz L.M., Clark R.A., Schwartz S., Segraves R., Oseroff V.V., Albertson D.G., Pinkel D., and Eichler E.E. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77 (2005) 78-88
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, V.V.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
20
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
Shaw-Smith C., Pittman A.M., Willatt L., Martin H., Rickman L., Gribble S., Curley R., Cumming S., Dunn C., Kalaitzopoulos D., Porter K., Prigmore E., Krepischi-Santos A.C., Varela M.C., Koiffmann C.P., Lees A.J., Rosenberg C., Firth H.V., de Silva R., and Carter N.P. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat. Genet. 38 (2006) 1032-1037
-
(2006)
Nat. Genet.
, vol.38
, pp. 1032-1037
-
-
Shaw-Smith, C.1
Pittman, A.M.2
Willatt, L.3
Martin, H.4
Rickman, L.5
Gribble, S.6
Curley, R.7
Cumming, S.8
Dunn, C.9
Kalaitzopoulos, D.10
Porter, K.11
Prigmore, E.12
Krepischi-Santos, A.C.13
Varela, M.C.14
Koiffmann, C.P.15
Lees, A.J.16
Rosenberg, C.17
Firth, H.V.18
de Silva, R.19
Carter, N.P.20
more..
-
21
-
-
0242300619
-
Alpha-synuclein locus triplication causes Parkinson's disease
-
Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., Lincoln S., Crawley A., Hanson M., Maraganore D., Adler C., Cookson M.R., Muenter M., Baptista M., Miller D., Blancato J., Hardy J., and Gwinn-Hardy K. Alpha-synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
22
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson H., Helgason A., Thorleifsson G., Steinthorsdottir V., Masson G., Barnard J., Baker A., Jonasdottir A., Ingason A., Gudnadottir V.G., Desnica N., Hicks A., Gylfason A., Gudbjartsson D.F., Jonsdottir G.M., Sainz J., Agnarsson K., Birgisdottir B., Ghosh S., Olafsdottir A., Cazier J.B., Kristjansson K., Frigge M.L., Thorgeirsson T.E., Gulcher J.R., Kong A., and Stefansson K. A common inversion under selection in Europeans. Nat. Genet. 37 (2005) 129-137
-
(2005)
Nat. Genet.
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
Desnica, N.11
Hicks, A.12
Gylfason, A.13
Gudbjartsson, D.F.14
Jonsdottir, G.M.15
Sainz, J.16
Agnarsson, K.17
Birgisdottir, B.18
Ghosh, S.19
Olafsdottir, A.20
Cazier, J.B.21
Kristjansson, K.22
Frigge, M.L.23
Thorgeirsson, T.E.24
Gulcher, J.R.25
Kong, A.26
Stefansson, K.27
more..
-
23
-
-
33744987916
-
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient
-
Varela M.C., Krepischi-Santos A.C., Paz J.A., Knijnenburg J., Szuhai K., Rosenberg C., and Koiffmann C.P. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenet. Genome. Res. 114 (2006) 89-92
-
(2006)
Cytogenet. Genome. Res.
, vol.114
, pp. 89-92
-
-
Varela, M.C.1
Krepischi-Santos, A.C.2
Paz, J.A.3
Knijnenburg, J.4
Szuhai, K.5
Rosenberg, C.6
Koiffmann, C.P.7
|