Etiology
Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP
ESC Heart Fail
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
PMID: 38217456Free PMC Article
Davico C,
D'Alessandro R,
Borgogno M,
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Ricci F,
Amianto F,
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Carli D,
Mussa A,
Vitiello B,
Ferrero GB
Eur J Pediatr
2022 Aug;181(8):2919-2926.
Epub 2022 May 16
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Tajan M,
Paccoud R,
Branka S,
Edouard T,
Yart A
Endocr Rev
2018 Oct 1;39(5):676-700.
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Niihori T,
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J Hum Genet
2016 Jan;61(1):33-9.
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Hannig V,
Jeoung M,
Jang ER,
Phillips JA 3rd,
Galperin E
Hum Mutat
2014 Nov;35(11):1290-4.
Epub 2014 Sep 11
doi: 10.1002/humu.22634.
PMID: 25137548Free PMC Article
Diagnosis
Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP
ESC Heart Fail
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
PMID: 38217456Free PMC Article
Fujishige S,
Ogawa Y,
Aoyagi H,
Okamoto T
Pediatr Int
2023 Jan-Dec;65(1):e15643.
doi: 10.1111/ped.15643.
PMID: 37817399
Kavamura MI,
Leoni C,
Neri G
Am J Med Genet C Semin Med Genet
2022 Dec;190(4):452-458.
Epub 2022 Dec 21
doi: 10.1002/ajmg.c.32027.
PMID: 36541891
Davico C,
D'Alessandro R,
Borgogno M,
Campagna F,
Torta F,
Ricci F,
Amianto F,
Vittorini R,
Carli D,
Mussa A,
Vitiello B,
Ferrero GB
Eur J Pediatr
2022 Aug;181(8):2919-2926.
Epub 2022 May 16
doi: 10.1007/s00431-022-04497-6.
PMID: 35575813
Hannig V,
Jeoung M,
Jang ER,
Phillips JA 3rd,
Galperin E
Hum Mutat
2014 Nov;35(11):1290-4.
Epub 2014 Sep 11
doi: 10.1002/humu.22634.
PMID: 25137548Free PMC Article
Therapy
Zhou P,
Zhu L,
Fan Q,
Liu Y,
Zhang T,
Yang T,
Chen J,
Cheng Q,
Li T,
Chen L
Am J Med Genet A
2020 Aug;182(8):1967-1971.
Epub 2020 Jun 1
doi: 10.1002/ajmg.a.61638.
PMID: 32476286
Takasawa K,
Takishima S,
Morioka C,
Nishioka M,
Ohashi H,
Aoki Y,
Shimohira M,
Kashimada K,
Morio T
Am J Med Genet A
2015 Oct;167A(10):2425-9.
Epub 2015 Jun 19
doi: 10.1002/ajmg.a.37191.
PMID: 26096762
Zmolikova M,
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Hecht P,
Lebl J,
Trkova M,
Krepelova A
Am J Med Genet A
2014 May;164A(5):1218-21.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36404.
PMID: 24458596
Lepri FR,
Scavelli R,
Digilio MC,
Gnazzo M,
Grotta S,
Dentici ML,
Pisaneschi E,
Sirleto P,
Capolino R,
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Franchin T,
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BMC Med Genet
2014 Jan 23;15:14.
doi: 10.1186/1471-2350-15-14.
PMID: 24451042Free PMC Article
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Am J Med Genet A
2013 Nov;161A(11):2756-61.
Epub 2013 Oct 3
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PMID: 24124081
Prognosis
Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP
ESC Heart Fail
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
PMID: 38217456Free PMC Article
Papadopoulos G,
Papadopoulou A,
Kosma K,
Papadimitriou A,
Papaevangelou V,
Kanaka-Gantenbein C,
Bountouvi E,
Kitsiou-Tzeli S
Eur J Pediatr
2022 Oct;181(10):3691-3700.
Epub 2022 Jul 29
doi: 10.1007/s00431-022-04574-w.
PMID: 35904599
Davico C,
D'Alessandro R,
Borgogno M,
Campagna F,
Torta F,
Ricci F,
Amianto F,
Vittorini R,
Carli D,
Mussa A,
Vitiello B,
Ferrero GB
Eur J Pediatr
2022 Aug;181(8):2919-2926.
Epub 2022 May 16
doi: 10.1007/s00431-022-04497-6.
PMID: 35575813
Zmolikova M,
Puchmajerova A,
Hecht P,
Lebl J,
Trkova M,
Krepelova A
Am J Med Genet A
2014 May;164A(5):1218-21.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36404.
PMID: 24458596
Vavrík P,
Jarosová K,
Popelka S
Acta Chir Orthop Traumatol Cech
2008 Oct;75(5):392-5.
PMID: 19026195
Clinical prediction guides
Perrot A,
Rickert-Sperling S
Adv Exp Med Biol
2024;1441:505-534.
doi: 10.1007/978-3-031-44087-8_27.
PMID: 38884729
Boleti O,
Norrish G,
Field E,
Dady K,
Summers K,
Nepali G,
Bhole V,
Uzun O,
Wong A,
Daubeney PEF,
Stuart G,
Fernandes P,
McLeod K,
Ilina M,
Ali MNL,
Bharucha T,
Donne GD,
Brown E,
Linter K,
Jones CB,
Searle J,
Regan W,
Mathur S,
Boyd N,
Reinhardt Z,
Duignan S,
Prendiville T,
Adwani S,
Kaski JP
ESC Heart Fail
2024 Apr;11(2):923-936.
Epub 2024 Jan 13
doi: 10.1002/ehf2.14637.
PMID: 38217456Free PMC Article
Hanson HL,
Wilson MJ,
Short JP,
Chioza BA,
Crosby AH,
Nash RM,
Marks KJ,
Mansour S
Am J Med Genet A
2014 Apr;164A(4):1003-9.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36375.
PMID: 24458550
Alfieri P,
Piccini G,
Caciolo C,
Perrino F,
Gambardella ML,
Mallardi M,
Cesarini L,
Leoni C,
Leone D,
Fossati C,
Selicorni A,
Digilio MC,
Tartaglia M,
Mercuri E,
Zampino G,
Vicari S
Am J Med Genet A
2014 Apr;164A(4):934-42.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36374.
PMID: 24458522
Malaquias AC,
Brasil AS,
Pereira AC,
Arnhold IJ,
Mendonca BB,
Bertola DR,
Jorge AA
Am J Med Genet A
2012 Nov;158A(11):2700-6.
Epub 2012 Aug 6
doi: 10.1002/ajmg.a.35519.
PMID: 22887833