Etiology
Deng J,
Altintas B,
Haley JS,
Kim J,
Ramos M,
Carey DJ,
Stewart DR,
McReynolds LJ
Genet Med
2024 Mar;26(3):101042.
Epub 2023 Dec 5
doi: 10.1016/j.gim.2023.101042.
PMID: 38063144Free PMC Article
Polgreen PM,
Comellas AP
Annu Rev Med
2022 Jan 27;73:563-574.
doi: 10.1146/annurev-med-042120-020148.
PMID: 35084992Free PMC Article
Bacchelli E,
Cameli C,
Viggiano M,
Igliozzi R,
Mancini A,
Tancredi R,
Battaglia A,
Maestrini E
Sci Rep
2020 Feb 21;10(1):3198.
doi: 10.1038/s41598-020-59922-3.
PMID: 32081867Free PMC Article
Salzer U,
Bacchelli C,
Buckridge S,
Pan-Hammarström Q,
Jennings S,
Lougaris V,
Bergbreiter A,
Hagena T,
Birmelin J,
Plebani A,
Webster AD,
Peter HH,
Suez D,
Chapel H,
McLean-Tooke A,
Spickett GP,
Anover-Sombke S,
Ochs HD,
Urschel S,
Belohradsky BH,
Ugrinovic S,
Kumararatne DS,
Lawrence TC,
Holm AM,
Franco JL,
Schulze I,
Schneider P,
Gertz EM,
Schäffer AA,
Hammarström L,
Thrasher AJ,
Gaspar HB,
Grimbacher B
Blood
2009 Feb 26;113(9):1967-76.
Epub 2008 Nov 3
doi: 10.1182/blood-2008-02-141937.
PMID: 18981294Free PMC Article
Fouchier SW,
Kastelein JJ,
Defesche JC
Hum Mutat
2005 Dec;26(6):550-6.
doi: 10.1002/humu.20256.
PMID: 16250003
Diagnosis
Zakiudin DP,
Thyssen JP,
Zachariae C,
Videm V,
Øien T,
Simpson MR
Acta Derm Venereol
2024 Apr 24;104:adv24360.
doi: 10.2340/actadv.v104.24360.
PMID: 38655655Free PMC Article
Polgreen PM,
Comellas AP
Annu Rev Med
2022 Jan 27;73:563-574.
doi: 10.1146/annurev-med-042120-020148.
PMID: 35084992Free PMC Article
Yang X,
Song H,
Leslie G,
Engel C,
Hahnen E,
Auber B,
Horváth J,
Kast K,
Niederacher D,
Turnbull C,
Houlston R,
Hanson H,
Loveday C,
Dolinsky JS,
LaDuca H,
Ramus SJ,
Menon U,
Rosenthal AN,
Jacobs I,
Gayther SA,
Dicks E,
Nevanlinna H,
Aittomäki K,
Pelttari LM,
Ehrencrona H,
Borg Å,
Kvist A,
Rivera B,
Hansen TVO,
Djursby M,
Lee A,
Dennis J,
Bowtell DD,
Traficante N,
Diez O,
Balmaña J,
Gruber SB,
Chenevix-Trench G,
Investigators K,
Jensen A,
Kjær SK,
Høgdall E,
Castéra L,
Garber J,
Janavicius R,
Osorio A,
Golmard L,
Vega A,
Couch FJ,
Robson M,
Gronwald J,
Domchek SM,
Culver JO,
de la Hoya M,
Easton DF,
Foulkes WD,
Tischkowitz M,
Meindl A,
Schmutzler RK,
Pharoah PDP,
Antoniou AC
J Natl Cancer Inst
2020 Dec 14;112(12):1242-1250.
doi: 10.1093/jnci/djaa030.
PMID: 32107557Free PMC Article
Nordestgaard BG,
Chapman MJ,
Humphries SE,
Ginsberg HN,
Masana L,
Descamps OS,
Wiklund O,
Hegele RA,
Raal FJ,
Defesche JC,
Wiegman A,
Santos RD,
Watts GF,
Parhofer KG,
Hovingh GK,
Kovanen PT,
Boileau C,
Averna M,
Borén J,
Bruckert E,
Catapano AL,
Kuivenhoven JA,
Pajukanta P,
Ray K,
Stalenhoef AF,
Stroes E,
Taskinen MR,
Tybjærg-Hansen A;
European Atherosclerosis Society Consensus Panel
Eur Heart J
2013 Dec;34(45):3478-90a.
Epub 2013 Aug 15
doi: 10.1093/eurheartj/eht273.
PMID: 23956253Free PMC Article
Fouchier SW,
Kastelein JJ,
Defesche JC
Hum Mutat
2005 Dec;26(6):550-6.
doi: 10.1002/humu.20256.
PMID: 16250003
Therapy
Huber D,
Seitz S,
Kast K,
Emons G,
Ortmann O
J Cancer Res Clin Oncol
2021 Jul;147(7):2035-2045.
Epub 2021 Apr 22
doi: 10.1007/s00432-021-03629-z.
PMID: 33885953Free PMC Article
Harper AR,
Goel A,
Grace C,
Thomson KL,
Petersen SE,
Xu X,
Waring A,
Ormondroyd E,
Kramer CM,
Ho CY,
Neubauer S;
HCMR Investigators,
Tadros R,
Ware JS,
Bezzina CR,
Farrall M,
Watkins H
Nat Genet
2021 Feb;53(2):135-142.
Epub 2021 Jan 25
doi: 10.1038/s41588-020-00764-0.
PMID: 33495597Free PMC Article
Jonsson P,
Bandlamudi C,
Cheng ML,
Srinivasan P,
Chavan SS,
Friedman ND,
Rosen EY,
Richards AL,
Bouvier N,
Selcuklu SD,
Bielski CM,
Abida W,
Mandelker D,
Birsoy O,
Zhang L,
Zehir A,
Donoghue MTA,
Baselga J,
Offit K,
Scher HI,
O'Reilly EM,
Stadler ZK,
Schultz N,
Socci ND,
Viale A,
Ladanyi M,
Robson ME,
Hyman DM,
Berger MF,
Solit DB,
Taylor BS
Nature
2019 Jul;571(7766):576-579.
Epub 2019 Jul 10
doi: 10.1038/s41586-019-1382-1.
PMID: 31292550Free PMC Article
van Vlijmen EF,
Wiewel-Verschueren S,
Monster TB,
Meijer K
J Thromb Haemost
2016 Jul;14(7):1393-403.
Epub 2016 Jun 16
doi: 10.1111/jth.13349.
PMID: 27121914
Nordestgaard BG,
Chapman MJ,
Humphries SE,
Ginsberg HN,
Masana L,
Descamps OS,
Wiklund O,
Hegele RA,
Raal FJ,
Defesche JC,
Wiegman A,
Santos RD,
Watts GF,
Parhofer KG,
Hovingh GK,
Kovanen PT,
Boileau C,
Averna M,
Borén J,
Bruckert E,
Catapano AL,
Kuivenhoven JA,
Pajukanta P,
Ray K,
Stalenhoef AF,
Stroes E,
Taskinen MR,
Tybjærg-Hansen A;
European Atherosclerosis Society Consensus Panel
Eur Heart J
2013 Dec;34(45):3478-90a.
Epub 2013 Aug 15
doi: 10.1093/eurheartj/eht273.
PMID: 23956253Free PMC Article
Prognosis
Fox S,
Speirs V,
Shaaban AM
Virchows Arch
2022 Jan;480(1):85-93.
Epub 2021 Aug 30
doi: 10.1007/s00428-021-03190-7.
PMID: 34458944
Burn J,
Sheth H,
Elliott F,
Reed L,
Macrae F,
Mecklin JP,
Möslein G,
McRonald FE,
Bertario L,
Evans DG,
Gerdes AM,
Ho JWC,
Lindblom A,
Morrison PJ,
Rashbass J,
Ramesar R,
Seppälä T,
Thomas HJW,
Pylvänäinen K,
Borthwick GM,
Mathers JC,
Bishop DT;
CAPP2 Investigators
Lancet
2020 Jun 13;395(10240):1855-1863.
doi: 10.1016/S0140-6736(20)30366-4.
PMID: 32534647Free PMC Article
Yang X,
Song H,
Leslie G,
Engel C,
Hahnen E,
Auber B,
Horváth J,
Kast K,
Niederacher D,
Turnbull C,
Houlston R,
Hanson H,
Loveday C,
Dolinsky JS,
LaDuca H,
Ramus SJ,
Menon U,
Rosenthal AN,
Jacobs I,
Gayther SA,
Dicks E,
Nevanlinna H,
Aittomäki K,
Pelttari LM,
Ehrencrona H,
Borg Å,
Kvist A,
Rivera B,
Hansen TVO,
Djursby M,
Lee A,
Dennis J,
Bowtell DD,
Traficante N,
Diez O,
Balmaña J,
Gruber SB,
Chenevix-Trench G,
Investigators K,
Jensen A,
Kjær SK,
Høgdall E,
Castéra L,
Garber J,
Janavicius R,
Osorio A,
Golmard L,
Vega A,
Couch FJ,
Robson M,
Gronwald J,
Domchek SM,
Culver JO,
de la Hoya M,
Easton DF,
Foulkes WD,
Tischkowitz M,
Meindl A,
Schmutzler RK,
Pharoah PDP,
Antoniou AC
J Natl Cancer Inst
2020 Dec 14;112(12):1242-1250.
doi: 10.1093/jnci/djaa030.
PMID: 32107557Free PMC Article
Jonsson T,
Stefansson H,
Steinberg S,
Jonsdottir I,
Jonsson PV,
Snaedal J,
Bjornsson S,
Huttenlocher J,
Levey AI,
Lah JJ,
Rujescu D,
Hampel H,
Giegling I,
Andreassen OA,
Engedal K,
Ulstein I,
Djurovic S,
Ibrahim-Verbaas C,
Hofman A,
Ikram MA,
van Duijn CM,
Thorsteinsdottir U,
Kong A,
Stefansson K
N Engl J Med
2013 Jan 10;368(2):107-16.
Epub 2012 Nov 14
doi: 10.1056/NEJMoa1211103.
PMID: 23150908Free PMC Article
King MC,
Marks JH,
Mandell JB;
New York Breast Cancer Study Group
Science
2003 Oct 24;302(5645):643-6.
doi: 10.1126/science.1088759.
PMID: 14576434
Clinical prediction guides
Ibrahim S,
Hartgers ML,
Reeskamp LF,
Zuurbier L,
Defesche J,
Kastelein JJP,
Stroes ESG,
Hovingh GK,
Huijgen R
Atherosclerosis
2024 Oct;397:117610.
Epub 2024 Jun 10
doi: 10.1016/j.atherosclerosis.2024.117610.
PMID: 39085000
Yang X,
Song H,
Leslie G,
Engel C,
Hahnen E,
Auber B,
Horváth J,
Kast K,
Niederacher D,
Turnbull C,
Houlston R,
Hanson H,
Loveday C,
Dolinsky JS,
LaDuca H,
Ramus SJ,
Menon U,
Rosenthal AN,
Jacobs I,
Gayther SA,
Dicks E,
Nevanlinna H,
Aittomäki K,
Pelttari LM,
Ehrencrona H,
Borg Å,
Kvist A,
Rivera B,
Hansen TVO,
Djursby M,
Lee A,
Dennis J,
Bowtell DD,
Traficante N,
Diez O,
Balmaña J,
Gruber SB,
Chenevix-Trench G,
Investigators K,
Jensen A,
Kjær SK,
Høgdall E,
Castéra L,
Garber J,
Janavicius R,
Osorio A,
Golmard L,
Vega A,
Couch FJ,
Robson M,
Gronwald J,
Domchek SM,
Culver JO,
de la Hoya M,
Easton DF,
Foulkes WD,
Tischkowitz M,
Meindl A,
Schmutzler RK,
Pharoah PDP,
Antoniou AC
J Natl Cancer Inst
2020 Dec 14;112(12):1242-1250.
doi: 10.1093/jnci/djaa030.
PMID: 32107557Free PMC Article
Bacchelli E,
Cameli C,
Viggiano M,
Igliozzi R,
Mancini A,
Tancredi R,
Battaglia A,
Maestrini E
Sci Rep
2020 Feb 21;10(1):3198.
doi: 10.1038/s41598-020-59922-3.
PMID: 32081867Free PMC Article
Wang J,
Dron JS,
Ban MR,
Robinson JF,
McIntyre AD,
Alazzam M,
Zhao PJ,
Dilliott AA,
Cao H,
Huff MW,
Rhainds D,
Low-Kam C,
Dubé MP,
Lettre G,
Tardif JC,
Hegele RA
Arterioscler Thromb Vasc Biol
2016 Dec;36(12):2439-2445.
Epub 2016 Oct 20
doi: 10.1161/ATVBAHA.116.308027.
PMID: 27765764
Jonsson T,
Stefansson H,
Steinberg S,
Jonsdottir I,
Jonsson PV,
Snaedal J,
Bjornsson S,
Huttenlocher J,
Levey AI,
Lah JJ,
Rujescu D,
Hampel H,
Giegling I,
Andreassen OA,
Engedal K,
Ulstein I,
Djurovic S,
Ibrahim-Verbaas C,
Hofman A,
Ikram MA,
van Duijn CM,
Thorsteinsdottir U,
Kong A,
Stefansson K
N Engl J Med
2013 Jan 10;368(2):107-16.
Epub 2012 Nov 14
doi: 10.1056/NEJMoa1211103.
PMID: 23150908Free PMC Article