Etiology
Handa A,
Tsujioka Y,
Nishimura G,
Nozaki T,
Kono T,
Jinzaki M,
Harms T,
Connolly SA,
Sato TS,
Sato Y
Radiographics
2024 May;44(5):e230153.
doi: 10.1148/rg.230153.
PMID: 38602868
Yoon SH,
Kim GY,
Choi GT,
Do JT
Cells
2023 May 11;12(10)
doi: 10.3390/cells12101365.
PMID: 37408200Free PMC Article
Marino BS,
Lipkin PH,
Newburger JW,
Peacock G,
Gerdes M,
Gaynor JW,
Mussatto KA,
Uzark K,
Goldberg CS,
Johnson WH Jr,
Li J,
Smith SE,
Bellinger DC,
Mahle WT;
American Heart Association Congenital Heart Defects Committee, Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Stroke Council
Circulation
2012 Aug 28;126(9):1143-72.
Epub 2012 Jul 30
doi: 10.1161/CIR.0b013e318265ee8a.
PMID: 22851541
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Bondy CA
Horm Res
2009 Jan;71 Suppl 1:52-6.
Epub 2009 Jan 21
doi: 10.1159/000178039.
PMID: 19153507
Diagnosis
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
Kepple JW,
Fishler KP,
Peeples ES
Am J Med Genet A
2021 Apr;185(4):1294-1303.
Epub 2021 Feb 2
doi: 10.1002/ajmg.a.62097.
PMID: 33527722
Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
PMID: 31213699
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
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Therapy
Viuff M,
Gravholt CH
Ann Endocrinol (Paris)
2022 Aug;83(4):244-249.
Epub 2022 Jun 18
doi: 10.1016/j.ando.2022.06.001.
PMID: 35728697
Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
PMID: 31213699
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
Kesler SR
Child Adolesc Psychiatr Clin N Am
2007 Jul;16(3):709-22.
doi: 10.1016/j.chc.2007.02.004.
PMID: 17562588Free PMC Article
Judge DP,
Dietz HC
Lancet
2005 Dec 3;366(9501):1965-76.
doi: 10.1016/S0140-6736(05)67789-6.
PMID: 16325700Free PMC Article
Prognosis
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
Pirruccello JP,
Di Achille P,
Nauffal V,
Nekoui M,
Friedman SF,
Klarqvist MDR,
Chaffin MD,
Weng LC,
Cunningham JW,
Khurshid S,
Roselli C,
Lin H,
Koyama S,
Ito K,
Kamatani Y,
Komuro I;
BioBank Japan Project,
Jurgens SJ,
Benjamin EJ,
Batra P,
Natarajan P,
Ng K,
Hoffmann U,
Lubitz SA,
Ho JE,
Lindsay ME,
Philippakis AA,
Ellinor PT
Nat Genet
2022 Jun;54(6):792-803.
Epub 2022 Jun 13
doi: 10.1038/s41588-022-01090-3.
PMID: 35697867Free PMC Article
Society for Maternal-Fetal Medicine (SMFM),
Monteagudo A
Am J Obstet Gynecol
2020 Dec;223(6):B38-B41.
Epub 2020 Nov 7
doi: 10.1016/j.ajog.2020.08.184.
PMID: 33168220
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
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
Hill MC,
Kadow ZA,
Long H,
Morikawa Y,
Martin TJ,
Birks EJ,
Campbell KS,
Nerbonne J,
Lavine K,
Wadhwa L,
Wang J,
Turaga D,
Adachi I,
Martin JF
Nature
2022 Aug;608(7921):181-191.
Epub 2022 Jun 22
doi: 10.1038/s41586-022-04989-3.
PMID: 35732239Free PMC Article
Pirruccello JP,
Di Achille P,
Nauffal V,
Nekoui M,
Friedman SF,
Klarqvist MDR,
Chaffin MD,
Weng LC,
Cunningham JW,
Khurshid S,
Roselli C,
Lin H,
Koyama S,
Ito K,
Kamatani Y,
Komuro I;
BioBank Japan Project,
Jurgens SJ,
Benjamin EJ,
Batra P,
Natarajan P,
Ng K,
Hoffmann U,
Lubitz SA,
Ho JE,
Lindsay ME,
Philippakis AA,
Ellinor PT
Nat Genet
2022 Jun;54(6):792-803.
Epub 2022 Jun 13
doi: 10.1038/s41588-022-01090-3.
PMID: 35697867Free PMC Article
Mazzarotto F,
Hawley MH,
Beltrami M,
Beekman L,
de Marvao A,
McGurk KA,
Statton B,
Boschi B,
Girolami F,
Roberts AM,
Lodder EM,
Allouba M,
Romeih S,
Aguib Y,
Baksi AJ,
Pantazis A,
Prasad SK,
Cerbai E,
Yacoub MH,
O'Regan DP,
Cook SA,
Ware JS,
Funke B,
Olivotto I,
Bezzina CR,
Barton PJR,
Walsh R
Genet Med
2021 May;23(5):856-864.
Epub 2021 Jan 26
doi: 10.1038/s41436-020-01049-x.
PMID: 33500567Free 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