Etiology
Orgebin E,
Lamoureux F,
Isidor B,
Charrier C,
Ory B,
Lézot F,
Baud'huin M
Cells
2020 Sep 11;9(9)
doi: 10.3390/cells9092080.
PMID: 32932838Free PMC Article
Bezzerri V,
Api M,
Allegri M,
Fabrizzi B,
Corey SJ,
Cipolli M
Int J Mol Sci
2020 Jun 30;21(13)
doi: 10.3390/ijms21134672.
PMID: 32630050Free PMC Article
van Dooijeweert B,
van Ommen CH,
Smiers FJ,
Tamminga RYJ,
Te Loo MW,
Donker AE,
Peters M,
Granzen B,
Gille HJJP,
Bierings MB,
MacInnes AW,
Bartels M
Eur J Haematol
2018 Feb;100(2):163-170.
Epub 2017 Dec 1
doi: 10.1111/ejh.12995.
PMID: 29114930
Danilova N,
Gazda HT
Dis Model Mech
2015 Sep;8(9):1013-26.
doi: 10.1242/dmm.020529.
PMID: 26398160Free PMC Article
Smetanina NS,
Mersiyanova IV,
Kurnikova MA,
Ovsyannikova GS,
Hachatryan LA,
Bobrynina VO,
Maschan MA,
Novichkova GA,
Lipton JM,
Maschan AA
Pediatr Blood Cancer
2015 Sep;62(9):1597-600.
Epub 2015 May 6
doi: 10.1002/pbc.25534.
PMID: 25946618Free PMC Article
Diagnosis
Cuccuini W,
Collonge-Rame MA,
Auger N,
Douet-Guilbert N,
Coster L,
Lafage-Pochitaloff M
Curr Res Transl Med
2023 Oct-Dec;71(4):103423.
Epub 2023 Oct 18
doi: 10.1016/j.retram.2023.103423.
PMID: 38016422
Maisonneuve E,
Ben M'Barek I,
Leblanc T,
Da Costa L,
Friszer S,
Pernot F,
Thomas P,
Castaigne V,
Toly N'Dour C,
Mailloux A,
Cortey A,
Jouannic JM
Fetal Diagn Ther
2020;47(2):156-164.
Epub 2019 Sep 10
doi: 10.1159/000501554.
PMID: 31505487
van Dooijeweert B,
van Ommen CH,
Smiers FJ,
Tamminga RYJ,
Te Loo MW,
Donker AE,
Peters M,
Granzen B,
Gille HJJP,
Bierings MB,
MacInnes AW,
Bartels M
Eur J Haematol
2018 Feb;100(2):163-170.
Epub 2017 Dec 1
doi: 10.1111/ejh.12995.
PMID: 29114930
Gripp KW,
Curry C,
Olney AH,
Sandoval C,
Fisher J,
Chong JX;
UW Center for Mendelian Genomics,
Pilchman L,
Sahraoui R,
Stabley DL,
Sol-Church K
Am J Med Genet A
2014 Sep;164A(9):2240-9.
Epub 2014 Jun 18
doi: 10.1002/ajmg.a.36633.
PMID: 24942156Free PMC Article
Verlinsky Y,
Rechitsky S,
Sharapova T,
Morris R,
Taranissi M,
Kuliev A
JAMA
2004 May 5;291(17):2079-85.
doi: 10.1001/jama.291.17.2079.
PMID: 15126435
Therapy
Bezzerri V,
Api M,
Allegri M,
Fabrizzi B,
Corey SJ,
Cipolli M
Int J Mol Sci
2020 Jun 30;21(13)
doi: 10.3390/ijms21134672.
PMID: 32630050Free PMC Article
Strahm B,
Loewecke F,
Niemeyer CM,
Albert M,
Ansari M,
Bader P,
Bertrand Y,
Burkhardt B,
Da Costa LM,
Ferster A,
Fischer A,
Güngör T,
Gruhn B,
Hainmann I,
Kapp F,
Lang P,
Müller I,
Schulz A,
Szvetnik A,
Wlodarski M,
Noellke P,
Leblanc T,
Dalle JH
Blood Adv
2020 Apr 28;4(8):1760-1769.
doi: 10.1182/bloodadvances.2019001210.
PMID: 32343795Free PMC Article
Maisonneuve E,
Ben M'Barek I,
Leblanc T,
Da Costa L,
Friszer S,
Pernot F,
Thomas P,
Castaigne V,
Toly N'Dour C,
Mailloux A,
Cortey A,
Jouannic JM
Fetal Diagn Ther
2020;47(2):156-164.
Epub 2019 Sep 10
doi: 10.1159/000501554.
PMID: 31505487
Behfar M,
Koochakzadeh L,
Yazdanian N,
Salajegheh P,
Rostami T,
Khodayari-Namini N,
Ghavamzadeh A,
Hamidieh AA
Turk J Pediatr
2019;61(3):407-412.
doi: 10.24953/turkjped.2019.03.013.
PMID: 31916719
Alessandri AJ,
Rogers PC,
Wadsworth LD,
Davis JH
J Pediatr Hematol Oncol
2000 Mar-Apr;22(2):176-9.
doi: 10.1097/00043426-200003000-00020.
PMID: 10779036
Prognosis
Cuccuini W,
Collonge-Rame MA,
Auger N,
Douet-Guilbert N,
Coster L,
Lafage-Pochitaloff M
Curr Res Transl Med
2023 Oct-Dec;71(4):103423.
Epub 2023 Oct 18
doi: 10.1016/j.retram.2023.103423.
PMID: 38016422
Maisonneuve E,
Ben M'Barek I,
Leblanc T,
Da Costa L,
Friszer S,
Pernot F,
Thomas P,
Castaigne V,
Toly N'Dour C,
Mailloux A,
Cortey A,
Jouannic JM
Fetal Diagn Ther
2020;47(2):156-164.
Epub 2019 Sep 10
doi: 10.1159/000501554.
PMID: 31505487
Behfar M,
Koochakzadeh L,
Yazdanian N,
Salajegheh P,
Rostami T,
Khodayari-Namini N,
Ghavamzadeh A,
Hamidieh AA
Turk J Pediatr
2019;61(3):407-412.
doi: 10.24953/turkjped.2019.03.013.
PMID: 31916719
van Dooijeweert B,
van Ommen CH,
Smiers FJ,
Tamminga RYJ,
Te Loo MW,
Donker AE,
Peters M,
Granzen B,
Gille HJJP,
Bierings MB,
MacInnes AW,
Bartels M
Eur J Haematol
2018 Feb;100(2):163-170.
Epub 2017 Dec 1
doi: 10.1111/ejh.12995.
PMID: 29114930
Gripp KW,
Curry C,
Olney AH,
Sandoval C,
Fisher J,
Chong JX;
UW Center for Mendelian Genomics,
Pilchman L,
Sahraoui R,
Stabley DL,
Sol-Church K
Am J Med Genet A
2014 Sep;164A(9):2240-9.
Epub 2014 Jun 18
doi: 10.1002/ajmg.a.36633.
PMID: 24942156Free PMC Article
Clinical prediction guides
van Dooijeweert B,
van Ommen CH,
Smiers FJ,
Tamminga RYJ,
Te Loo MW,
Donker AE,
Peters M,
Granzen B,
Gille HJJP,
Bierings MB,
MacInnes AW,
Bartels M
Eur J Haematol
2018 Feb;100(2):163-170.
Epub 2017 Dec 1
doi: 10.1111/ejh.12995.
PMID: 29114930
Gripp KW,
Curry C,
Olney AH,
Sandoval C,
Fisher J,
Chong JX;
UW Center for Mendelian Genomics,
Pilchman L,
Sahraoui R,
Stabley DL,
Sol-Church K
Am J Med Genet A
2014 Sep;164A(9):2240-9.
Epub 2014 Jun 18
doi: 10.1002/ajmg.a.36633.
PMID: 24942156Free PMC Article
Watkins-Chow DE,
Cooke J,
Pidsley R,
Edwards A,
Slotkin R,
Leeds KE,
Mullen R,
Baxter LL,
Campbell TG,
Salzer MC,
Biondini L,
Gibney G,
Phan Dinh Tuy F,
Chelly J,
Morris HD,
Riegler J,
Lythgoe MF,
Arkell RM,
Loreni F,
Flint J,
Pavan WJ,
Keays DA
PLoS Genet
2013;9(1):e1003094.
Epub 2013 Jan 31
doi: 10.1371/journal.pgen.1003094.
PMID: 23382688Free PMC Article
Gazda H,
Lipton JM,
Willig TN,
Ball S,
Niemeyer CM,
Tchernia G,
Mohandas N,
Daly MJ,
Ploszynska A,
Orfali KA,
Vlachos A,
Glader BE,
Rokicka-Milewska R,
Ohara A,
Baker D,
Pospisilova D,
Webber A,
Viskochil DH,
Nathan DG,
Beggs AH,
Sieff CA
Blood
2001 Apr 1;97(7):2145-50.
doi: 10.1182/blood.v97.7.2145.
PMID: 11264183
Abkowitz JL,
Sabo KM,
Nakamoto B,
Blau CA,
Martin FH,
Zsebo KM,
Papayannopoulou T
Blood
1991 Nov 1;78(9):2198-202.
PMID: 1718487