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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

Taniguchi, Yuki ; Takeda, Norifumi ; Inuzuka, Ryo ; Matsubayashi, Yoshitaka ; Kato, So ; Doi, Toru ; Yagi, Hiroki ; Yamauchi, Haruo ; Ando, Masahiko ; Oshima, Yasushi ; Tanaka, Sakae

Journal of medical genetics, 2023-01, Vol.60 (1), p.74-80 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Andrews, Katrina A ; Ascher, David B ; Pires, Douglas Eduardo Valente ; Barnes, Daniel R ; Vialard, Lindsey ; Casey, Ruth T ; Bradshaw, Nicola ; Adlard, Julian ; Aylwin, Simon ; Brennan, Paul ; Brewer, Carole ; Cole, Trevor ; Cook, Jackie A ; Davidson, Rosemarie ; Donaldson, Alan ; Fryer, Alan ; Greenhalgh, Lynn ; hodgson, Shirley V ; Irving, Richard ; Lalloo, Fiona ; McConachie, Michelle ; McConnell, Vivienne P M ; Morrison, Patrick J ; Murday, Victoria ; Park, Soo-Mi ; Simpson, Helen L ; Snape, Katie ; Stewart, Susan ; Tomkins, Susan E ; Wallis, Yvonne ; Izatt, Louise ; Goudie, David ; Lindsay, Robert S ; Perry, Colin G ; Woodward, Emma R ; Antoniou, Antonis C ; Maher, Eamonn R

Journal of medical genetics, 2018-06, Vol.55 (6), p.384-394 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer’s disease
Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer’s disease
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Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer’s disease

Coughlan, Gillian ; Coutrot, Antoine ; Khondoker, Mizanur ; Minihane, Anne-Marie ; Spiers, Hugo ; Hornberger, Michael

Proceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (19), p.9285-9292 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Clinical importance of extended second field high‐resolution HLA genotyping for kidney transplantation
Clinical importance of extended second field high‐resolution HLA genotyping for kidney transplantation
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Clinical importance of extended second field high‐resolution HLA genotyping for kidney transplantation

Senev, Aleksandar ; Emonds, Marie‐Paule ; Van Sandt, Vicky ; Lerut, Evelyne ; Coemans, Maarten ; Sprangers, Ben ; Kuypers, Dirk ; Naesens, Maarten

American journal of transplantation, 2020-12, Vol.20 (12), p.3367-3378 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Long-term coffee consumption, caffeine metabolism genetics, and risk of cardiovascular disease: a prospective analysis of up to 347,077 individuals and 8368 cases
Long-term coffee consumption, caffeine metabolism genetics, and risk of cardiovascular disease: a prospective analysis of up to 347,077 individuals and 8368 cases
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Long-term coffee consumption, caffeine metabolism genetics, and risk of cardiovascular disease: a prospective analysis of up to 347,077 individuals and 8368 cases

Zhou, Ang ; Hyppönen, Elina

The American journal of clinical nutrition, 2019-03, Vol.109 (3), p.509-516 [Periódico revisado por pares]

United States: Elsevier Inc

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6
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
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APOE and Alzheimer disease: a major gene with semi-dominant inheritance

GENIN, E ; HANNEQUIN, D ; PASQUIER, F ; DUBOIS, B ; TOGNONI, G ; FIEVET, N ; BROUWERS, N ; BETTENS, K ; AROSIO, B ; COTO, E ; DEL ZOMPO, M ; MATEO, I ; WALLON, D ; EPELBAUM, J ; FRANK-GARCIA, A ; HELISALMI, S ; PORCELLINI, E ; PILOTTO, A ; FORTI, P ; FERRI, R ; SCARPINI, E ; SICILIANO, G ; SOLFRIZZI, V ; SLEEPERS, K ; SORBI, S ; SPALLETTA, G ; VALDIVIESO, F ; VEPSÄLÄINEN, S ; ALVAREZ, V ; BOSCO, P ; MANCUSO, M ; PANZA, F ; NACMIAS, B ; BOSSU, P ; HILTUNEN, M ; HANON, O ; PICCARDI, P ; ANNONI, G ; SERIPA, D ; GALIMBERTI, D ; LICASTRO, F ; SOININEN, H ; DARTIGUES, J.-F ; KAMBOH, M. I ; VAN BROECKHOVEN, C ; COMBARROS, O ; LAMBERT, J. C ; AMOUYEL, P ; CAMPION, D ; BULLIDO, M. J ; ENGELBORGHS, S ; DE DEYN, P ; BERR, C

Molecular psychiatry, 2011-09, Vol.16 (9), p.903-907 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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7
AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis
AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis
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AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis

Morelle, Johann ; Marechal, Céline ; Yu, Zanzhe ; Debaix, Huguette ; Corre, Tanguy ; Lambie, Mark ; Verduijn, Marion ; Dekker, Friedo ; Bovy, Philippe ; Evenepoel, Pieter ; Bammens, Bert ; Selgas, Rafael ; Bajo, Maria A ; Coester, Annemieke M ; Sow, Amadou ; Hautem, Nicolas ; Struijk, Dirk G ; Krediet, Raymond T ; Balligand, Jean-Luc ; Goffin, Eric ; Crott, Ralph ; Ripoche, Pierre ; Davies, Simon ; Devuyst, Olivier

The New England journal of medicine, 2021-10, Vol.385 (17), p.1570-1580 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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8
Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
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Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

Scott, Laura J ; Mohlke, Karen L ; Bonnycastle, Lori L ; Willer, Cristen J ; Li, Yun ; Duren, William L ; Erdos, Michael R ; Stringham, Heather M ; Chines, Peter S ; Jackson, Anne U ; Prokunina-Olsson, Ludmila ; Ding, Chia-Jen ; Swift, Amy J ; Narisu, Narisu ; Hu, Tianle ; Pruim, Randall ; Xiao, Rui ; Li, Xiao-Yi ; Conneely, Karen N ; Riebow, Nancy L ; Sprau, Andrew G ; Tong, Maurine ; White, Peggy P ; Hetrick, Kurt N ; Barnhart, Michael W ; Bark, Craig W ; Goldstein, Janet L ; Watkins, Lee ; Xiang, Fang ; Saramies, Jouko ; Buchanan, Thomas A ; Watanabe, Richard M ; Valle, Timo T ; Kinnunen, Leena ; Abecasis, Gonçalo R ; Pugh, Elizabeth W ; Doheny, Kimberly F ; Bergman, Richard N ; Tuomilehto, Jaakko ; Collins, Francis S ; Boehnke, Michael

Science (American Association for the Advancement of Science), 2007-06, Vol.316 (5829), p.1341-1345 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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9
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study
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Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Reiman, Eric M ; Arboleda-Velasquez, Joseph F ; Quiroz, Yakeel T ; Huentelman, Matthew J ; Beach, Thomas G ; Caselli, Richard J ; Chen, Yinghua ; Su, Yi ; Myers, Amanda J ; Hardy, John ; Paul Vonsattel, Jean ; Younkin, Steven G ; Bennett, David A ; De Jager, Philip L ; Larson, Eric B ; Crane, Paul K ; Keene, C Dirk ; Kamboh, M Ilyas ; Kofler, Julia K ; Duque, Linda ; Gilbert, John R ; Gwirtsman, Harry E ; Buxbaum, Joseph D ; Dickson, Dennis W ; Frosch, Matthew P ; Ghetti, Bernardino F ; Lunetta, Kathryn L ; Wang, Li-San ; Hyman, Bradley T ; Kukull, Walter A ; Foroud, Tatiana ; Haines, Jonathan L ; Mayeux, Richard P ; Pericak-Vance, Margaret A ; Schneider, Julie A ; Trojanowski, John Q ; Farrer, Lindsay A ; Schellenberg, Gerard D ; Beecham, Gary W ; Montine, Thomas J ; Jun, Gyungah R

Nature communications, 2020-02, Vol.11 (1), p.667-667, Article 667 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular Degeneration
Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular Degeneration
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Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular Degeneration

Rasmussen, Katrine L ; Tybjærg-Hansen, Anne ; Nordestgaard, Børge G ; Frikke-Schmidt, Ruth

Archives of ophthalmology (1960), 2023-01, Vol.141 (1), p.13-21 [Periódico revisado por pares]

United States: American Medical Association

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