Etiology
Handa A,
Tsujioka Y,
Nishimura G,
Nozaki T,
Kono T,
Jinzaki M,
Harms T,
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Radiographics
2024 May;44(5):e230153.
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Yoon SH,
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Cells
2023 May 11;12(10)
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Swillen A,
Crowley TB,
Loo JCY,
Lairson LA,
Óskarsdóttir S,
Boot E,
Garcia-Minaur S,
Cristina Digilio M,
Marino B,
Coleman B,
Moldenhauer JS,
Bassett AS,
McDonald-McGinn DM
Genes (Basel)
2023 Jan 6;14(1)
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Digilio MC,
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Orphanet J Rare Dis
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Horm Res
2009 Jan;71 Suppl 1:52-6.
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Diagnosis
Blagowidow N,
Nowakowska B,
Schindewolf E,
Grati FR,
Putotto C,
Breckpot J,
Swillen A,
Crowley TB,
Loo JCY,
Lairson LA,
Óskarsdóttir S,
Boot E,
Garcia-Minaur S,
Cristina Digilio M,
Marino B,
Coleman B,
Moldenhauer JS,
Bassett AS,
McDonald-McGinn DM
Genes (Basel)
2023 Jan 6;14(1)
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Kepple JW,
Fishler KP,
Peeples ES
Am J Med Genet A
2021 Apr;185(4):1294-1303.
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Gravholt CH,
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Brun S,
Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
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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.
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Digilio MC,
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Orphanet J Rare Dis
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Therapy
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Stochholm K,
Andersen NH
Nat Rev Endocrinol
2019 Oct;15(10):601-614.
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Abman SH,
Hansmann G,
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Adatia I,
Chung WK,
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Rosenzweig EB,
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Cornfield D,
Stenmark KR,
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Thébaud B,
Fineman JR,
Kuehne T,
Feinstein JA,
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Barst RJ,
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Kinsella JP,
Mullen M,
Deterding R,
Kulik T,
Mallory G,
Humpl T,
Wessel DL;
American Heart Association Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular Radiology and Intervention; Council on Cardiovascular Surgery and Anesthesia; and the American Thoracic Society
Circulation
2015 Nov 24;132(21):2037-99.
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Towbin JA,
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Lancet
2015 Aug 22;386(9995):813-25.
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Child Adolesc Psychiatr Clin N Am
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Lancet
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Prognosis
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.
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Society for Maternal-Fetal Medicine (SMFM),
Monteagudo A
Am J Obstet Gynecol
2020 Dec;223(6):B38-B41.
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Linglart L,
Gelb BD
Am J Med Genet C Semin Med Genet
2020 Mar;184(1):73-80.
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Orphanet J Rare Dis
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Digilio MC,
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Orphanet J Rare Dis
2010 Sep 29;5:25.
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PMID: 20920258Free PMC Article
Clinical prediction guides
Yoon SH,
Kim GY,
Choi GT,
Do JT
Cells
2023 May 11;12(10)
doi: 10.3390/cells12101365.
PMID: 37408200Free PMC Article
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.
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Hill MC,
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Long H,
Morikawa Y,
Martin TJ,
Birks EJ,
Campbell KS,
Nerbonne J,
Lavine K,
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Wang J,
Turaga D,
Adachi I,
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Nature
2022 Aug;608(7921):181-191.
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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
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PMID: 35697867Free 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.
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PMID: 32164556Free PMC Article