Etiology
Sorber R,
Hicks CW
Curr Cardiol Rep
2022 Mar;24(3):209-216.
Epub 2022 Jan 14
doi: 10.1007/s11886-022-01642-3.
PMID: 35029783Free PMC Article
Vilacosta I,
San Román JA,
di Bartolomeo R,
Eagle K,
Estrera AL,
Ferrera C,
Kaji S,
Nienaber CA,
Riambau V,
Schäfers HJ,
Serrano FJ,
Song JK,
Maroto L
J Am Coll Cardiol
2021 Nov 23;78(21):2106-2125.
doi: 10.1016/j.jacc.2021.09.022.
PMID: 34794692
Morello F,
Santoro M,
Fargion AT,
Grifoni S,
Nazerian P
Intern Emerg Med
2021 Jan;16(1):171-181.
Epub 2020 May 1
doi: 10.1007/s11739-020-02354-8.
PMID: 32358680
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Camilleri M,
Chedid V,
Ford AC,
Haruma K,
Horowitz M,
Jones KL,
Low PA,
Park SY,
Parkman HP,
Stanghellini V
Nat Rev Dis Primers
2018 Nov 1;4(1):41.
doi: 10.1038/s41572-018-0038-z.
PMID: 30385743
Diagnosis
Sorber R,
Hicks CW
Curr Cardiol Rep
2022 Mar;24(3):209-216.
Epub 2022 Jan 14
doi: 10.1007/s11886-022-01642-3.
PMID: 35029783Free PMC Article
Morello F,
Santoro M,
Fargion AT,
Grifoni S,
Nazerian P
Intern Emerg Med
2021 Jan;16(1):171-181.
Epub 2020 May 1
doi: 10.1007/s11739-020-02354-8.
PMID: 32358680
Aref-Eshghi E,
Kerkhof J,
Pedro VP;
Groupe DI France,
Barat-Houari M,
Ruiz-Pallares N,
Andrau JC,
Lacombe D,
Van-Gils J,
Fergelot P,
Dubourg C,
Cormier-Daire V,
Rondeau S,
Lecoquierre F,
Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
Faivre L,
Thauvin-Robinet C,
Laumonnier F,
Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
Pizzi S,
Tartaglia M,
Heide S,
Héron D,
Mignot C,
Keren B,
Whalen S,
Afenjar A,
Bienvenu T,
Campeau PM,
Rousseau J,
Levy MA,
Brick L,
Kozenko M,
Balci TB,
Siu VM,
Stuart A,
Kadour M,
Masters J,
Takano K,
Kleefstra T,
de Leeuw N,
Field M,
Shaw M,
Gecz J,
Ainsworth PJ,
Lin H,
Rodenhiser DI,
Friez MJ,
Tedder M,
Lee JA,
DuPont BR,
Stevenson RE,
Skinner SA,
Schwartz CE,
Genevieve D,
Sadikovic B
Am J Hum Genet
2020 Mar 5;106(3):356-370.
Epub 2020 Feb 27
doi: 10.1016/j.ajhg.2020.01.019.
PMID: 32109418Free PMC Article
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Otter M,
Schrander-Stumpel CT,
Curfs LM
Eur J Hum Genet
2010 Mar;18(3):265-71.
Epub 2009 Jul 1
doi: 10.1038/ejhg.2009.109.
PMID: 19568271Free PMC Article
Therapy
Goetzl L
Am J Obstet Gynecol
2023 May;228(5S):S1274-S1282.
Epub 2023 Mar 20
doi: 10.1016/j.ajog.2022.11.002.
PMID: 36997396
Calvani M,
Anania C,
Bianchi A,
D'Auria E,
Cardinale F,
Votto M,
Martelli A,
Tosca M,
Chiappini E,
Brambilla I,
Miraglia Del Giudice M,
Caffarelli C
Acta Biomed
2021 Nov 29;92(S7):e2021518.
doi: 10.23750/abm.v92iS7.12394.
PMID: 34842596Free PMC Article
Auld F,
Maschauer EL,
Morrison I,
Skene DJ,
Riha RL
Sleep Med Rev
2017 Aug;34:10-22.
Epub 2016 Jul 20
doi: 10.1016/j.smrv.2016.06.005.
PMID: 28648359
Reintam Blaser A,
Starkopf J,
Alhazzani W,
Berger MM,
Casaer MP,
Deane AM,
Fruhwald S,
Hiesmayr M,
Ichai C,
Jakob SM,
Loudet CI,
Malbrain ML,
Montejo González JC,
Paugam-Burtz C,
Poeze M,
Preiser JC,
Singer P,
van Zanten AR,
De Waele J,
Wendon J,
Wernerman J,
Whitehouse T,
Wilmer A,
Oudemans-van Straaten HM;
ESICM Working Group on Gastrointestinal Function
Intensive Care Med
2017 Mar;43(3):380-398.
Epub 2017 Feb 6
doi: 10.1007/s00134-016-4665-0.
PMID: 28168570Free PMC Article
Herxheimer A,
Petrie KJ
Cochrane Database Syst Rev
2002;(2):CD001520.
doi: 10.1002/14651858.CD001520.
PMID: 12076414
Prognosis
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
McKiernan P
Clin Res Hepatol Gastroenterol
2012 Jun;36(3):253-6.
Epub 2012 May 18
doi: 10.1016/j.clinre.2012.03.018.
PMID: 22609294
Miller DH,
Chard DT,
Ciccarelli O
Lancet Neurol
2012 Feb;11(2):157-69.
doi: 10.1016/S1474-4422(11)70274-5.
PMID: 22265211
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Macmillan C
Semin Pediatr Neurol
1998 Mar;5(1):39-44.
doi: 10.1016/s1071-9091(98)80017-x.
PMID: 9548640
Clinical prediction guides
Sanchez-Jimeno C,
Blanco-Kelly F,
López-Grondona F,
Losada-Del Pozo R,
Moreno B,
Rodrigo-Moreno M,
Martinez-Cayuelas E,
Riveiro-Alvarez R,
Fenollar-Cortés M,
Ayuso C,
Rodríguez de Alba M,
Lorda-Sanchez I,
Almoguera B
Genes (Basel)
2021 Aug 30;12(9)
doi: 10.3390/genes12091360.
PMID: 34573342Free PMC Article
Yates TM,
Drucker M,
Barnicoat A,
Low K,
Gerkes EH,
Fry AE,
Parker MJ,
O'Driscoll M,
Charles P,
Cox H,
Marey I,
Keren B,
Rinne T,
McEntagart M,
Ramachandran V,
Drury S,
Vansenne F,
Sival DA,
Herkert JC,
Callewaert B,
Tan WH,
Balasubramanian M
Hum Mutat
2020 May;41(5):1042-1050.
Epub 2020 Mar 5
doi: 10.1002/humu.24001.
PMID: 32097528
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Moortgat S,
Berland S,
Aukrust I,
Maystadt I,
Baker L,
Benoit V,
Caro-Llopis A,
Cooper NS,
Debray FG,
Faivre L,
Gardeitchik T,
Haukanes BI,
Houge G,
Kivuva E,
Martinez F,
Mehta SG,
Nassogne MC,
Powell-Hamilton N,
Pfundt R,
Rosello M,
Prescott T,
Vasudevan P,
van Loon B,
Verellen-Dumoulin C,
Verloes A,
Lippe CV,
Wakeling E,
Wilkie AOM,
Wilson L,
Yuen A,
Study D,
Low KJ,
Newbury-Ecob RA
Eur J Hum Genet
2018 Jan;26(1):64-74.
Epub 2017 Nov 27
doi: 10.1038/s41431-017-0038-6.
PMID: 29180823Free PMC Article
Asmus F,
Gasser T
Eur J Neurol
2010 Jul;17 Suppl 1:37-45.
doi: 10.1111/j.1468-1331.2010.03049.x.
PMID: 20590807