Etiology
Ercan AB,
Aronson M,
Fernandez NR,
Chang Y,
Levine A,
Liu ZA,
Negm L,
Edwards M,
Bianchi V,
Stengs L,
Chung J,
Al-Battashi A,
Reschke A,
Lion A,
Ahmad A,
Lassaletta A,
Reddy AT,
Al-Darraji AF,
Shah AC,
Van Damme A,
Bendel A,
Rashid A,
Margol AS,
Kelly BL,
Pencheva B,
Heald B,
Lemieux-Anglin B,
Crooks B,
Koschmann C,
Gilpin C,
Porter CC,
Gass D,
Samuel D,
Ziegler DS,
Blumenthal DT,
Kuo DJ,
Hamideh D,
Basel D,
Khuong-Quang DA,
Stearns D,
Opocher E,
Carceller F,
Baris Feldman H,
Toledano H,
Winer I,
Scheers I,
Fedorakova I,
Su JM,
Vengoechea J,
Sterba J,
Knipstein J,
Hansford JR,
Gonzales-Santos JR,
Bhatia K,
Bielamowicz KJ,
Minhas K,
Nichols KE,
Cole KA,
Penney L,
Hjort MA,
Sabel M,
Gil-da-Costa MJ,
Murray MJ,
Miller M,
Blundell ML,
Massimino M,
Al-Hussaini M,
Al-Jadiry MF,
Comito MA,
Osborn M,
Link MP,
Zapotocky M,
Ghalibafian M,
Shaheen N,
Mushtaq N,
Waespe N,
Hijiya N,
Fuentes-Bolanos N,
Ahmad O,
Chamdine O,
Roy P,
Pichurin PN,
Nyman P,
Pearlman R,
Auer RC,
Sukumaran RK,
Kebudi R,
Dvir R,
Raphael R,
Elhasid R,
McGee RB,
Chami R,
Noss R,
Tanaka R,
Raskin S,
Sen S,
Lindhorst S,
Perreault S,
Caspi S,
Riaz S,
Constantini S,
Albert S,
Chaleff S,
Bielack S,
Chiaravalli S,
Cramer SL,
Roy S,
Cahn S,
Penna S,
Hamid SA,
Ghafoor T,
Imam U,
Larouche V,
Magimairajan Issai V,
Foulkes WD,
Lee YY,
Nathan PC,
Maruvka YE,
Greer MC,
Durno C,
Shlien A,
Ertl-Wagner B,
Villani A,
Malkin D,
Hawkins C,
Bouffet E,
Das A,
Tabori U
Lancet Oncol
2024 May;25(5):668-682.
Epub 2024 Mar 26
doi: 10.1016/S1470-2045(24)00026-3.
PMID: 38552658
Aronson M,
Colas C,
Shuen A,
Hampel H,
Foulkes WD,
Baris Feldman H,
Goldberg Y,
Muleris M,
Wolfe Schneider K,
McGee RB,
Jasperson K,
Rangaswami A,
Brugieres L,
Tabori U
J Med Genet
2022 Apr;59(4):318-327.
Epub 2021 Feb 23
doi: 10.1136/jmedgenet-2020-107627.
PMID: 33622763
Durno C,
Ercan AB,
Bianchi V,
Edwards M,
Aronson M,
Galati M,
Atenafu EG,
Abebe-Campino G,
Al-Battashi A,
Alharbi M,
Azad VF,
Baris HN,
Basel D,
Bedgood R,
Bendel A,
Ben-Shachar S,
Blumenthal DT,
Blundell M,
Bornhorst M,
Bronsema A,
Cairney E,
Rhode S,
Caspi S,
Chamdin A,
Chiaravalli S,
Constantini S,
Crooks B,
Das A,
Dvir R,
Farah R,
Foulkes WD,
Frenkel Z,
Gallinger B,
Gardner S,
Gass D,
Ghalibafian M,
Gilpin C,
Goldberg Y,
Goudie C,
Hamid SA,
Hampel H,
Hansford JR,
Harlos C,
Hijiya N,
Hsu S,
Kamihara J,
Kebudi R,
Knipstein J,
Koschmann C,
Kratz C,
Larouche V,
Lassaletta A,
Lindhorst S,
Ling SC,
Link MP,
Loret De Mola R,
Luiten R,
Lurye M,
Maciaszek JL,
MagimairajanIssai V,
Maher OM,
Massimino M,
McGee RB,
Mushtaq N,
Mason G,
Newmark M,
Nicholas G,
Nichols KE,
Nicolaides T,
Opocher E,
Osborn M,
Oshrine B,
Pearlman R,
Pettee D,
Rapp J,
Rashid M,
Reddy A,
Reichman L,
Remke M,
Robbins G,
Roy S,
Sabel M,
Samuel D,
Scheers I,
Schneider KW,
Sen S,
Stearns D,
Sumerauer D,
Swallow C,
Taylor L,
Thomas G,
Toledano H,
Tomboc P,
Van Damme A,
Winer I,
Yalon M,
Yen LY,
Zapotocky M,
Zelcer S,
Ziegler DS,
Zimmermann S,
Hawkins C,
Malkin D,
Bouffet E,
Villani A,
Tabori U
J Clin Oncol
2021 Sep 1;39(25):2779-2790.
Epub 2021 May 4
doi: 10.1200/JCO.20.02636.
PMID: 33945292Free PMC Article
Wimmer K,
Rosenbaum T,
Messiaen L
Clin Genet
2017 Apr;91(4):507-519.
Epub 2017 Jan 10
doi: 10.1111/cge.12904.
PMID: 27779754
van der Klift HM,
Mensenkamp AR,
Drost M,
Bik EC,
Vos YJ,
Gille HJ,
Redeker BE,
Tiersma Y,
Zonneveld JB,
García EG,
Letteboer TG,
Olderode-Berends MJ,
van Hest LP,
van Os TA,
Verhoef S,
Wagner A,
van Asperen CJ,
Ten Broeke SW,
Hes FJ,
de Wind N,
Nielsen M,
Devilee P,
Ligtenberg MJ,
Wijnen JT,
Tops CM
Hum Mutat
2016 Nov;37(11):1162-1179.
Epub 2016 Aug 21
doi: 10.1002/humu.23052.
PMID: 27435373
Diagnosis
Ercan AB,
Aronson M,
Fernandez NR,
Chang Y,
Levine A,
Liu ZA,
Negm L,
Edwards M,
Bianchi V,
Stengs L,
Chung J,
Al-Battashi A,
Reschke A,
Lion A,
Ahmad A,
Lassaletta A,
Reddy AT,
Al-Darraji AF,
Shah AC,
Van Damme A,
Bendel A,
Rashid A,
Margol AS,
Kelly BL,
Pencheva B,
Heald B,
Lemieux-Anglin B,
Crooks B,
Koschmann C,
Gilpin C,
Porter CC,
Gass D,
Samuel D,
Ziegler DS,
Blumenthal DT,
Kuo DJ,
Hamideh D,
Basel D,
Khuong-Quang DA,
Stearns D,
Opocher E,
Carceller F,
Baris Feldman H,
Toledano H,
Winer I,
Scheers I,
Fedorakova I,
Su JM,
Vengoechea J,
Sterba J,
Knipstein J,
Hansford JR,
Gonzales-Santos JR,
Bhatia K,
Bielamowicz KJ,
Minhas K,
Nichols KE,
Cole KA,
Penney L,
Hjort MA,
Sabel M,
Gil-da-Costa MJ,
Murray MJ,
Miller M,
Blundell ML,
Massimino M,
Al-Hussaini M,
Al-Jadiry MF,
Comito MA,
Osborn M,
Link MP,
Zapotocky M,
Ghalibafian M,
Shaheen N,
Mushtaq N,
Waespe N,
Hijiya N,
Fuentes-Bolanos N,
Ahmad O,
Chamdine O,
Roy P,
Pichurin PN,
Nyman P,
Pearlman R,
Auer RC,
Sukumaran RK,
Kebudi R,
Dvir R,
Raphael R,
Elhasid R,
McGee RB,
Chami R,
Noss R,
Tanaka R,
Raskin S,
Sen S,
Lindhorst S,
Perreault S,
Caspi S,
Riaz S,
Constantini S,
Albert S,
Chaleff S,
Bielack S,
Chiaravalli S,
Cramer SL,
Roy S,
Cahn S,
Penna S,
Hamid SA,
Ghafoor T,
Imam U,
Larouche V,
Magimairajan Issai V,
Foulkes WD,
Lee YY,
Nathan PC,
Maruvka YE,
Greer MC,
Durno C,
Shlien A,
Ertl-Wagner B,
Villani A,
Malkin D,
Hawkins C,
Bouffet E,
Das A,
Tabori U
Lancet Oncol
2024 May;25(5):668-682.
Epub 2024 Mar 26
doi: 10.1016/S1470-2045(24)00026-3.
PMID: 38552658
Winter K,
Tan M,
Briscoe E,
Hyde A,
Daniel Stanley J
Am Surg
2023 Sep;89(9):3953-3955.
Epub 2023 Jun 1
doi: 10.1177/00031348231173987.
PMID: 37260094
Aronson M,
Colas C,
Shuen A,
Hampel H,
Foulkes WD,
Baris Feldman H,
Goldberg Y,
Muleris M,
Wolfe Schneider K,
McGee RB,
Jasperson K,
Rangaswami A,
Brugieres L,
Tabori U
J Med Genet
2022 Apr;59(4):318-327.
Epub 2021 Feb 23
doi: 10.1136/jmedgenet-2020-107627.
PMID: 33622763
Wimmer K,
Rosenbaum T,
Messiaen L
Clin Genet
2017 Apr;91(4):507-519.
Epub 2017 Jan 10
doi: 10.1111/cge.12904.
PMID: 27779754
Wimmer K,
Kratz CP,
Vasen HF,
Caron O,
Colas C,
Entz-Werle N,
Gerdes AM,
Goldberg Y,
Ilencikova D,
Muleris M,
Duval A,
Lavoine N,
Ruiz-Ponte C,
Slavc I,
Burkhardt B,
Brugieres L;
EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet
2014 Jun;51(6):355-65.
Epub 2014 Apr 15
doi: 10.1136/jmedgenet-2014-102284.
PMID: 24737826
Therapy
Yang C,
Austin F,
Richard H,
Idowu M,
Williamson V,
Sabato F,
Ferreira-Gonzalez A,
Turner SA
Cold Spring Harb Mol Case Stud
2019 Oct;5(5)
Epub 2019 Oct 23
doi: 10.1101/mcs.a003863.
PMID: 31604779Free PMC Article
Oshrine B,
Grana N,
Moore C,
Nguyen J,
Crenshaw M,
Edwards M,
Sudhaman S,
Forster VJ,
Tabori U
Blood Adv
2019 Jun 25;3(12):1795-1798.
doi: 10.1182/bloodadvances.2019000358.
PMID: 31189528Free PMC Article
Tanakaya K
Int J Clin Oncol
2019 Sep;24(9):1013-1019.
Epub 2018 May 9
doi: 10.1007/s10147-018-1282-7.
PMID: 29744602
Westdorp H,
Kolders S,
Hoogerbrugge N,
de Vries IJM,
Jongmans MCJ,
Schreibelt G
Cancer Lett
2017 Sep 10;403:159-164.
Epub 2017 Jun 20
doi: 10.1016/j.canlet.2017.06.018.
PMID: 28645564
Bodo S,
Colas C,
Buhard O,
Collura A,
Tinat J,
Lavoine N,
Guilloux A,
Chalastanis A,
Lafitte P,
Coulet F,
Buisine MP,
Ilencikova D,
Ruiz-Ponte C,
Kinzel M,
Grandjouan S,
Brems H,
Lejeune S,
Blanché H,
Wang Q,
Caron O,
Cabaret O,
Svrcek M,
Vidaud D,
Parfait B,
Verloes A,
Knappe UJ,
Soubrier F,
Mortemousque I,
Leis A,
Auclair-Perrossier J,
Frébourg T,
Fléjou JF,
Entz-Werle N,
Leclerc J,
Malka D,
Cohen-Haguenauer O,
Goldberg Y,
Gerdes AM,
Fedhila F,
Mathieu-Dramard M,
Hamelin R,
Wafaa B,
Gauthier-Villars M,
Bourdeaut F,
Sheridan E,
Vasen H,
Brugières L,
Wimmer K,
Muleris M,
Duval A;
European Consortium “Care for CMMRD”
Gastroenterology
2015 Oct;149(4):1017-29.e3.
Epub 2015 Jun 25
doi: 10.1053/j.gastro.2015.06.013.
PMID: 26116798
Prognosis
Ercan AB,
Aronson M,
Fernandez NR,
Chang Y,
Levine A,
Liu ZA,
Negm L,
Edwards M,
Bianchi V,
Stengs L,
Chung J,
Al-Battashi A,
Reschke A,
Lion A,
Ahmad A,
Lassaletta A,
Reddy AT,
Al-Darraji AF,
Shah AC,
Van Damme A,
Bendel A,
Rashid A,
Margol AS,
Kelly BL,
Pencheva B,
Heald B,
Lemieux-Anglin B,
Crooks B,
Koschmann C,
Gilpin C,
Porter CC,
Gass D,
Samuel D,
Ziegler DS,
Blumenthal DT,
Kuo DJ,
Hamideh D,
Basel D,
Khuong-Quang DA,
Stearns D,
Opocher E,
Carceller F,
Baris Feldman H,
Toledano H,
Winer I,
Scheers I,
Fedorakova I,
Su JM,
Vengoechea J,
Sterba J,
Knipstein J,
Hansford JR,
Gonzales-Santos JR,
Bhatia K,
Bielamowicz KJ,
Minhas K,
Nichols KE,
Cole KA,
Penney L,
Hjort MA,
Sabel M,
Gil-da-Costa MJ,
Murray MJ,
Miller M,
Blundell ML,
Massimino M,
Al-Hussaini M,
Al-Jadiry MF,
Comito MA,
Osborn M,
Link MP,
Zapotocky M,
Ghalibafian M,
Shaheen N,
Mushtaq N,
Waespe N,
Hijiya N,
Fuentes-Bolanos N,
Ahmad O,
Chamdine O,
Roy P,
Pichurin PN,
Nyman P,
Pearlman R,
Auer RC,
Sukumaran RK,
Kebudi R,
Dvir R,
Raphael R,
Elhasid R,
McGee RB,
Chami R,
Noss R,
Tanaka R,
Raskin S,
Sen S,
Lindhorst S,
Perreault S,
Caspi S,
Riaz S,
Constantini S,
Albert S,
Chaleff S,
Bielack S,
Chiaravalli S,
Cramer SL,
Roy S,
Cahn S,
Penna S,
Hamid SA,
Ghafoor T,
Imam U,
Larouche V,
Magimairajan Issai V,
Foulkes WD,
Lee YY,
Nathan PC,
Maruvka YE,
Greer MC,
Durno C,
Shlien A,
Ertl-Wagner B,
Villani A,
Malkin D,
Hawkins C,
Bouffet E,
Das A,
Tabori U
Lancet Oncol
2024 May;25(5):668-682.
Epub 2024 Mar 26
doi: 10.1016/S1470-2045(24)00026-3.
PMID: 38552658
Durno C,
Ercan AB,
Bianchi V,
Edwards M,
Aronson M,
Galati M,
Atenafu EG,
Abebe-Campino G,
Al-Battashi A,
Alharbi M,
Azad VF,
Baris HN,
Basel D,
Bedgood R,
Bendel A,
Ben-Shachar S,
Blumenthal DT,
Blundell M,
Bornhorst M,
Bronsema A,
Cairney E,
Rhode S,
Caspi S,
Chamdin A,
Chiaravalli S,
Constantini S,
Crooks B,
Das A,
Dvir R,
Farah R,
Foulkes WD,
Frenkel Z,
Gallinger B,
Gardner S,
Gass D,
Ghalibafian M,
Gilpin C,
Goldberg Y,
Goudie C,
Hamid SA,
Hampel H,
Hansford JR,
Harlos C,
Hijiya N,
Hsu S,
Kamihara J,
Kebudi R,
Knipstein J,
Koschmann C,
Kratz C,
Larouche V,
Lassaletta A,
Lindhorst S,
Ling SC,
Link MP,
Loret De Mola R,
Luiten R,
Lurye M,
Maciaszek JL,
MagimairajanIssai V,
Maher OM,
Massimino M,
McGee RB,
Mushtaq N,
Mason G,
Newmark M,
Nicholas G,
Nichols KE,
Nicolaides T,
Opocher E,
Osborn M,
Oshrine B,
Pearlman R,
Pettee D,
Rapp J,
Rashid M,
Reddy A,
Reichman L,
Remke M,
Robbins G,
Roy S,
Sabel M,
Samuel D,
Scheers I,
Schneider KW,
Sen S,
Stearns D,
Sumerauer D,
Swallow C,
Taylor L,
Thomas G,
Toledano H,
Tomboc P,
Van Damme A,
Winer I,
Yalon M,
Yen LY,
Zapotocky M,
Zelcer S,
Ziegler DS,
Zimmermann S,
Hawkins C,
Malkin D,
Bouffet E,
Villani A,
Tabori U
J Clin Oncol
2021 Sep 1;39(25):2779-2790.
Epub 2021 May 4
doi: 10.1200/JCO.20.02636.
PMID: 33945292Free PMC Article
Kebudi R,
Amayiri N,
Abedalthagafi M,
Rana AN,
Kirmani S,
Musthaq N,
Lamki ZA,
Houdzi JE,
Yazici H,
El-Naggar S,
Edwards M,
Bianchi VJ,
Durno C,
Tabori U,
Bouffet E;
International RRD Consortium on Low-Resource Settings Panel
Pediatr Blood Cancer
2020 Aug;67(8):e28309.
Epub 2020 May 30
doi: 10.1002/pbc.28309.
PMID: 32472748
Tanakaya K
Int J Clin Oncol
2019 Sep;24(9):1013-1019.
Epub 2018 May 9
doi: 10.1007/s10147-018-1282-7.
PMID: 29744602
Carethers JM,
Stoffel EM
World J Gastroenterol
2015 Aug 21;21(31):9253-61.
doi: 10.3748/wjg.v21.i31.9253.
PMID: 26309352Free PMC Article
Clinical prediction guides
Kebudi R,
Amayiri N,
Abedalthagafi M,
Rana AN,
Kirmani S,
Musthaq N,
Lamki ZA,
Houdzi JE,
Yazici H,
El-Naggar S,
Edwards M,
Bianchi VJ,
Durno C,
Tabori U,
Bouffet E;
International RRD Consortium on Low-Resource Settings Panel
Pediatr Blood Cancer
2020 Aug;67(8):e28309.
Epub 2020 May 30
doi: 10.1002/pbc.28309.
PMID: 32472748
Tanakaya K
Int J Clin Oncol
2019 Sep;24(9):1013-1019.
Epub 2018 May 9
doi: 10.1007/s10147-018-1282-7.
PMID: 29744602
Ripperger T,
Schlegelberger B
Eur J Med Genet
2016 Mar;59(3):133-42.
Epub 2015 Dec 30
doi: 10.1016/j.ejmg.2015.12.014.
PMID: 26743104
Carethers JM,
Stoffel EM
World J Gastroenterol
2015 Aug 21;21(31):9253-61.
doi: 10.3748/wjg.v21.i31.9253.
PMID: 26309352Free PMC Article
Wimmer K,
Kratz CP,
Vasen HF,
Caron O,
Colas C,
Entz-Werle N,
Gerdes AM,
Goldberg Y,
Ilencikova D,
Muleris M,
Duval A,
Lavoine N,
Ruiz-Ponte C,
Slavc I,
Burkhardt B,
Brugieres L;
EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet
2014 Jun;51(6):355-65.
Epub 2014 Apr 15
doi: 10.1136/jmedgenet-2014-102284.
PMID: 24737826