Etiology
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Athota JP,
Bhat M,
Nampoothiri S,
Gowrishankar K,
Narayanachar SG,
Puttamallesh V,
Farooque MO,
Shetty S
BMC Med Genet
2020 Mar 12;21(1):50.
doi: 10.1186/s12881-020-0986-5.
PMID: 32164556Free PMC Article
Zinkstok JR,
Boot E,
Bassett AS,
Hiroi N,
Butcher NJ,
Vingerhoets C,
Vorstman JAS,
van Amelsvoort TAMJ
Lancet Psychiatry
2019 Nov;6(11):951-960.
Epub 2019 Aug 5
doi: 10.1016/S2215-0366(19)30076-8.
PMID: 31395526Free PMC Article
Gravholt CH,
Andersen NH,
Conway GS,
Dekkers OM,
Geffner ME,
Klein KO,
Lin AE,
Mauras N,
Quigley CA,
Rubin K,
Sandberg DE,
Sas TCJ,
Silberbach M,
Söderström-Anttila V,
Stochholm K,
van Alfen-van derVelden JA,
Woelfle J,
Backeljauw PF;
International Turner Syndrome Consensus Group
Eur J Endocrinol
2017 Sep;177(3):G1-G70.
doi: 10.1530/EJE-17-0430.
PMID: 28705803
Towbin JA,
Lorts A,
Jefferies JL
Lancet
2015 Aug 22;386(9995):813-25.
Epub 2015 Apr 9
doi: 10.1016/S0140-6736(14)61282-4.
PMID: 25865865
Diagnosis
Kohut TJ,
Gilbert MA,
Loomes KM
Semin Liver Dis
2021 Nov;41(4):525-537.
Epub 2021 Jul 2
doi: 10.1055/s-0041-1730951.
PMID: 34215014
Linglart L,
Gelb BD
Am J Med Genet C Semin Med Genet
2020 Mar;184(1):73-80.
Epub 2020 Feb 5
doi: 10.1002/ajmg.c.31765.
PMID: 32022400Free PMC Article
Pierpont ME,
Brueckner M,
Chung WK,
Garg V,
Lacro RV,
McGuire AL,
Mital S,
Priest JR,
Pu WT,
Roberts A,
Ware SM,
Gelb BD,
Russell MW;
American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine
Circulation
2018 Nov 20;138(21):e653-e711.
doi: 10.1161/CIR.0000000000000606.
PMID: 30571578Free PMC Article
Gravholt CH,
Andersen NH,
Conway GS,
Dekkers OM,
Geffner ME,
Klein KO,
Lin AE,
Mauras N,
Quigley CA,
Rubin K,
Sandberg DE,
Sas TCJ,
Silberbach M,
Söderström-Anttila V,
Stochholm K,
van Alfen-van derVelden JA,
Woelfle J,
Backeljauw PF;
International Turner Syndrome Consensus Group
Eur J Endocrinol
2017 Sep;177(3):G1-G70.
doi: 10.1530/EJE-17-0430.
PMID: 28705803
Solomon BD
Orphanet J Rare Dis
2011 Aug 16;6:56.
doi: 10.1186/1750-1172-6-56.
PMID: 21846383Free PMC Article
Therapy
Krahn AD,
Laksman Z,
Sy RW,
Postema PG,
Ackerman MJ,
Wilde AAM,
Han HC
JACC Clin Electrophysiol
2022 May;8(5):687-706.
doi: 10.1016/j.jacep.2022.02.017.
PMID: 35589186
Cadrin-Tourigny J,
Tadros R
Can J Cardiol
2022 Apr;38(4):479-490.
Epub 2022 Jan 30
doi: 10.1016/j.cjca.2022.01.025.
PMID: 35108574
Rotter A,
Samorano LP,
Rivitti-Machado MC,
Oliveira ZNP,
Gontijo B
An Bras Dermatol
2018 Jun;93(3):405-411.
doi: 10.1590/abd1806-4841.20187693.
PMID: 29924216Free PMC Article
Oyarzún I,
Claveria C,
Larios G,
Le Roy C
Rev Chil Pediatr
2018 Feb;89(1):24-31.
doi: 10.4067/S0370-41062018000100024.
PMID: 29664500
Towbin JA,
Lorts A,
Jefferies JL
Lancet
2015 Aug 22;386(9995):813-25.
Epub 2015 Apr 9
doi: 10.1016/S0140-6736(14)61282-4.
PMID: 25865865
Prognosis
Petersen SE,
Jensen B,
Aung N,
Friedrich MG,
McMahon CJ,
Mohiddin SA,
Pignatelli RH,
Ricci F,
Anderson RH,
Bluemke DA
JACC Cardiovasc Imaging
2023 Mar;16(3):408-425.
Epub 2023 Feb 8
doi: 10.1016/j.jcmg.2022.12.026.
PMID: 36764891Free PMC Article
Delogu AB,
Limongelli G,
Versacci P,
Adorisio R,
Kaski JP,
Blandino R,
Maiolo S,
Monda E,
Putotto C,
De Rosa G,
Chatfield KC,
Gelb BD,
Calcagni G
Am J Med Genet C Semin Med Genet
2022 Dec;190(4):440-451.
Epub 2022 Nov 21
doi: 10.1002/ajmg.c.32014.
PMID: 36408797
Linglart L,
Gelb BD
Am J Med Genet C Semin Med Genet
2020 Mar;184(1):73-80.
Epub 2020 Feb 5
doi: 10.1002/ajmg.c.31765.
PMID: 32022400Free PMC Article
Solomon BD
Orphanet J Rare Dis
2011 Aug 16;6:56.
doi: 10.1186/1750-1172-6-56.
PMID: 21846383Free PMC Article
van der Burgt I
Orphanet J Rare Dis
2007 Jan 14;2:4.
doi: 10.1186/1750-1172-2-4.
PMID: 17222357Free PMC Article
Clinical prediction guides
Petersen SE,
Jensen B,
Aung N,
Friedrich MG,
McMahon CJ,
Mohiddin SA,
Pignatelli RH,
Ricci F,
Anderson RH,
Bluemke DA
JACC Cardiovasc Imaging
2023 Mar;16(3):408-425.
Epub 2023 Feb 8
doi: 10.1016/j.jcmg.2022.12.026.
PMID: 36764891Free PMC Article
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Athota JP,
Bhat M,
Nampoothiri S,
Gowrishankar K,
Narayanachar SG,
Puttamallesh V,
Farooque MO,
Shetty S
BMC Med Genet
2020 Mar 12;21(1):50.
doi: 10.1186/s12881-020-0986-5.
PMID: 32164556Free PMC Article
Piché J,
Van Vliet PP,
Pucéat M,
Andelfinger G
Cell Cycle
2019 Nov;18(21):2828-2848.
Epub 2019 Sep 13
doi: 10.1080/15384101.2019.1658476.
PMID: 31516082Free PMC Article
Stoll C,
Dott B,
Alembik Y,
Roth MP
Eur J Med Genet
2015 Dec;58(12):674-80.
Epub 2015 Nov 11
doi: 10.1016/j.ejmg.2015.11.003.
PMID: 26578241