Etiology
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
Tajan M,
Paccoud R,
Branka S,
Edouard T,
Yart A
Endocr Rev
2018 Oct 1;39(5):676-700.
doi: 10.1210/er.2017-00232.
PMID: 29924299
Aoki Y,
Niihori T,
Inoue S,
Matsubara Y
J Hum Genet
2016 Jan;61(1):33-9.
Epub 2015 Oct 8
doi: 10.1038/jhg.2015.114.
PMID: 26446362
Aoki Y,
Matsubara Y
Int J Hematol
2013 Jan;97(1):30-6.
Epub 2012 Dec 19
doi: 10.1007/s12185-012-1239-y.
PMID: 23250860
Diagnosis
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
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
Lepri FR,
Scavelli R,
Digilio MC,
Gnazzo M,
Grotta S,
Dentici ML,
Pisaneschi E,
Sirleto P,
Capolino R,
Baban A,
Russo S,
Franchin T,
Angioni A,
Dallapiccola B
BMC Med Genet
2014 Jan 23;15:14.
doi: 10.1186/1471-2350-15-14.
PMID: 24451042Free PMC Article
Aoki Y,
Matsubara Y
Int J Hematol
2013 Jan;97(1):30-6.
Epub 2012 Dec 19
doi: 10.1007/s12185-012-1239-y.
PMID: 23250860
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,
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
Lepri FR,
Scavelli R,
Digilio MC,
Gnazzo M,
Grotta S,
Dentici ML,
Pisaneschi E,
Sirleto P,
Capolino R,
Baban A,
Russo S,
Franchin T,
Angioni A,
Dallapiccola B
BMC Med Genet
2014 Jan 23;15:14.
doi: 10.1186/1471-2350-15-14.
PMID: 24451042Free PMC Article
Mazzanti L,
Tamburrino F,
Scarano E,
Perri A,
Vestrucci B,
Guidetti M,
Rossi C,
Tartaglia M
Am J Med Genet A
2013 Nov;161A(11):2756-61.
Epub 2013 Oct 3
doi: 10.1002/ajmg.a.36255.
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
Guey S,
Grangeon L,
Brunelle F,
Bergametti F,
Amiel J,
Lyonnet S,
Delaforge A,
Arnould M,
Desnous B,
Bellesme C,
Hervé D,
Schwitalla JC,
Kraemer M,
Tournier-Lasserve E,
Kossorotoff M
J Med Genet
2017 Aug;54(8):550-557.
Epub 2017 Mar 25
doi: 10.1136/jmedgenet-2016-104432.
PMID: 28343148
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
Clinical prediction guides
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
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
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
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