Etiology
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators
N Engl J Med
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
PMID: 26039521
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M
N Engl J Med
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
PMID: 19717846
Diagnosis
Paz-Ramírez M,
Muñoz-Martínez LB,
Morales-Jiménez AB,
Morán-Barroso VF,
García-Delgado C,
Azotla-Vilchis CN,
Márquez-Quiroz LC,
Astiazarán MC
Clin Dysmorphol
2022 Apr 1;31(2):94-97.
doi: 10.1097/MCD.0000000000000402.
PMID: 34750319
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Luk HM
Clin Dysmorphol
2016 Apr;25(2):82-3.
doi: 10.1097/MCD.0000000000000114.
PMID: 26862943
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658
Therapy
Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group
N Engl J Med
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
PMID: 34910859Free PMC Article
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Cannon CP,
Blazing MA,
Giugliano RP,
McCagg A,
White JA,
Theroux P,
Darius H,
Lewis BS,
Ophuis TO,
Jukema JW,
De Ferrari GM,
Ruzyllo W,
De Lucca P,
Im K,
Bohula EA,
Reist C,
Wiviott SD,
Tershakovec AM,
Musliner TA,
Braunwald E,
Califf RM;
IMPROVE-IT Investigators
N Engl J Med
2015 Jun 18;372(25):2387-97.
Epub 2015 Jun 3
doi: 10.1056/NEJMoa1410489.
PMID: 26039521
Wallentin L,
Becker RC,
Budaj A,
Cannon CP,
Emanuelsson H,
Held C,
Horrow J,
Husted S,
James S,
Katus H,
Mahaffey KW,
Scirica BM,
Skene A,
Steg PG,
Storey RF,
Harrington RA;
PLATO Investigators,
Freij A,
Thorsén M
N Engl J Med
2009 Sep 10;361(11):1045-57.
Epub 2009 Aug 30
doi: 10.1056/NEJMoa0904327.
PMID: 19717846
Prognosis
Hamza N,
Al-Araimi M,
Al Salmani K,
Al Obeidani S
Sultan Qaboos Univ Med J
2023 May;23(2):264-268.
Epub 2023 May 31
doi: 10.18295/squmj.4.2022.033.
PMID: 37377828Free PMC Article
Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group
N Engl J Med
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
PMID: 34910859Free PMC Article
El Sahly HM,
Baden LR,
Essink B,
Doblecki-Lewis S,
Martin JM,
Anderson EJ,
Campbell TB,
Clark J,
Jackson LA,
Fichtenbaum CJ,
Zervos M,
Rankin B,
Eder F,
Feldman G,
Kennelly C,
Han-Conrad L,
Levin M,
Neuzil KM,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Polakowski L,
Mascola JR,
Ledgerwood JE,
Graham BS,
August A,
Clouting H,
Deng W,
Han S,
Leav B,
Manzo D,
Pajon R,
Schödel F,
Tomassini JE,
Zhou H,
Miller J;
COVE Study Group
N Engl J Med
2021 Nov 4;385(19):1774-1785.
Epub 2021 Sep 22
doi: 10.1056/NEJMoa2113017.
PMID: 34551225Free PMC Article
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T
J Clin Endocrinol Metab
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
PMID: 31544945
Clinical prediction guides
Dunkle LM,
Kotloff KL,
Gay CL,
Áñez G,
Adelglass JM,
Barrat Hernández AQ,
Harper WL,
Duncanson DM,
McArthur MA,
Florescu DF,
McClelland RS,
Garcia-Fragoso V,
Riesenberg RA,
Musante DB,
Fried DL,
Safirstein BE,
McKenzie M,
Jeanfreau RJ,
Kingsley JK,
Henderson JA,
Lane DC,
Ruíz-Palacios GM,
Corey L,
Neuzil KM,
Coombs RW,
Greninger AL,
Hutter J,
Ake JA,
Smith K,
Woo W,
Cho I,
Glenn GM,
Dubovsky F;
2019nCoV-301 Study Group
N Engl J Med
2022 Feb 10;386(6):531-543.
Epub 2021 Dec 15
doi: 10.1056/NEJMoa2116185.
PMID: 34910859Free PMC Article
Baden LR,
El Sahly HM,
Essink B,
Kotloff K,
Frey S,
Novak R,
Diemert D,
Spector SA,
Rouphael N,
Creech CB,
McGettigan J,
Khetan S,
Segall N,
Solis J,
Brosz A,
Fierro C,
Schwartz H,
Neuzil K,
Corey L,
Gilbert P,
Janes H,
Follmann D,
Marovich M,
Mascola J,
Polakowski L,
Ledgerwood J,
Graham BS,
Bennett H,
Pajon R,
Knightly C,
Leav B,
Deng W,
Zhou H,
Han S,
Ivarsson M,
Miller J,
Zaks T;
COVE Study Group
N Engl J Med
2021 Feb 4;384(5):403-416.
Epub 2020 Dec 30
doi: 10.1056/NEJMoa2035389.
PMID: 33378609Free PMC Article
Masunaga Y,
Inoue T,
Yamoto K,
Fujisawa Y,
Sato Y,
Kawashima-Sonoyama Y,
Morisada N,
Iijima K,
Ohata Y,
Namba N,
Suzumura H,
Kuribayashi R,
Yamaguchi Y,
Yoshihashi H,
Fukami M,
Saitsu H,
Kagami M,
Ogata T
J Clin Endocrinol Metab
2020 Jan 1;105(1)
doi: 10.1210/clinem/dgz034.
PMID: 31544945
Giabicani E,
Netchine I,
Brioude F
Curr Opin Pediatr
2016 Aug;28(4):529-35.
doi: 10.1097/MOP.0000000000000379.
PMID: 27386972
Eggermann T
Am J Med Genet C Semin Med Genet
2010 Aug 15;154C(3):355-64.
doi: 10.1002/ajmg.c.30274.
PMID: 20803658