Etiology
Juchniewicz P,
Kloska A,
Portalska K,
Jakóbkiewicz-Banecka J,
Węgrzyn G,
Liss J,
Głodek P,
Tukaj S,
Piotrowska E
Chromosome Res
2023 Jan 25;31(1):4.
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PMID: 36695960Free PMC Article
Roberts AL,
Morea A,
Amar A,
Zito A,
El-Sayed Moustafa JS,
Tomlinson M,
Bowyer RCE,
Zhang X,
Christiansen C,
Costeira R,
Steves CJ,
Mangino M,
Bell JT,
Wong CCY,
Vyse TJ,
Small KS
Elife
2022 Nov 22;11
doi: 10.7554/eLife.78263.
PMID: 36412098Free PMC Article
Duan X,
Yang S,
Zhang H,
Wu J,
Zhang Y,
Ji D,
Tie L,
Boerkoel CF
J Dent Res
2019 Jul;98(8):870-878.
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Mengel-From J,
Thinggaard M,
Christiansen L,
Vaupel JW,
Orstavik KH,
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Eur J Hum Genet
2012 Mar;20(3):361-4.
Epub 2011 Dec 7
doi: 10.1038/ejhg.2011.215.
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Uz E,
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Nelson JL,
Ozcelik T
Clin Rev Allergy Immunol
2008 Jun;34(3):352-5.
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PMID: 18157513Free PMC Article
Diagnosis
Fadra N,
Schultz-Rogers LE,
Chanana P,
Cousin MA,
Macke EL,
Ferrer A,
Pinto E Vairo F,
Olson RJ,
Oliver GR,
Mulvihill LA,
Jenkinson G,
Klee EW
BMC Genomics
2024 Apr 16;25(1):371.
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Batlle-Masó L,
Rivière JG,
Franco-Jarava C,
Martín-Nalda A,
Garcia-Prat M,
Parra-Martínez A,
Aguiló-Cucurull A,
Castells N,
Martinez-Gallo M,
Soler-Palacín P,
Colobran R
J Clin Immunol
2023 Nov;43(8):1953-1963.
Epub 2023 Aug 19
doi: 10.1007/s10875-023-01556-x.
PMID: 37597073
Giovenino C,
Trajkova S,
Pavinato L,
Cardaropoli S,
Pullano V,
Ferrero E,
Sukarova-Angelovska E,
Carestiato S,
Salmin P,
Rinninella A,
Battaglia A,
Bertoli L,
Fadda A,
Palermo F,
Carli D,
Mussa A,
Dimartino P,
Bruselles A,
Froukh T,
Mandrile G,
Pasini B,
De Rubeis S,
Buxbaum JD,
Pippucci T,
Tartaglia M,
Rossato M,
Delledonne M,
Ferrero GB,
Brusco A
Eur J Hum Genet
2023 Nov;31(11):1228-1236.
Epub 2023 Mar 6
doi: 10.1038/s41431-023-01324-w.
PMID: 36879111Free PMC Article
Roberts AL,
Morea A,
Amar A,
Zito A,
El-Sayed Moustafa JS,
Tomlinson M,
Bowyer RCE,
Zhang X,
Christiansen C,
Costeira R,
Steves CJ,
Mangino M,
Bell JT,
Wong CCY,
Vyse TJ,
Small KS
Elife
2022 Nov 22;11
doi: 10.7554/eLife.78263.
PMID: 36412098Free PMC Article
Cho RY,
Peñaherrera MS,
Du Souich C,
Huang L,
Mwenifumbo J,
Nelson TN,
Elliott AM,
Adam S;
CAUSES Study,
Eydoux P,
Yang GX,
Chijiwa C,
Van Allen MI,
Friedman JM,
Robinson WP,
Lehman A
Am J Med Genet A
2020 Mar;182(3):498-503.
Epub 2019 Dec 16
doi: 10.1002/ajmg.a.61451.
PMID: 31840929
Therapy
Giovenino C,
Trajkova S,
Pavinato L,
Cardaropoli S,
Pullano V,
Ferrero E,
Sukarova-Angelovska E,
Carestiato S,
Salmin P,
Rinninella A,
Battaglia A,
Bertoli L,
Fadda A,
Palermo F,
Carli D,
Mussa A,
Dimartino P,
Bruselles A,
Froukh T,
Mandrile G,
Pasini B,
De Rubeis S,
Buxbaum JD,
Pippucci T,
Tartaglia M,
Rossato M,
Delledonne M,
Ferrero GB,
Brusco A
Eur J Hum Genet
2023 Nov;31(11):1228-1236.
Epub 2023 Mar 6
doi: 10.1038/s41431-023-01324-w.
PMID: 36879111Free PMC Article
Juchniewicz P,
Kloska A,
Portalska K,
Jakóbkiewicz-Banecka J,
Węgrzyn G,
Liss J,
Głodek P,
Tukaj S,
Piotrowska E
Chromosome Res
2023 Jan 25;31(1):4.
doi: 10.1007/s10577-023-09717-9.
PMID: 36695960Free PMC Article
Roberts AL,
Morea A,
Amar A,
Zito A,
El-Sayed Moustafa JS,
Tomlinson M,
Bowyer RCE,
Zhang X,
Christiansen C,
Costeira R,
Steves CJ,
Mangino M,
Bell JT,
Wong CCY,
Vyse TJ,
Small KS
Elife
2022 Nov 22;11
doi: 10.7554/eLife.78263.
PMID: 36412098Free PMC Article
Shvetsova E,
Sofronova A,
Monajemi R,
Gagalova K,
Draisma HHM,
White SJ,
Santen GWE,
Chuva de Sousa Lopes SM,
Heijmans BT,
van Meurs J,
Jansen R,
Franke L,
Kiełbasa SM,
den Dunnen JT,
't Hoen PAC;
BIOS consortium;
GoNL consortium
Eur J Hum Genet
2019 Mar;27(3):455-465.
Epub 2018 Dec 14
doi: 10.1038/s41431-018-0291-3.
PMID: 30552425Free PMC Article
Migeon BR
Cytogenet Cell Genet
1998;80(1-4):142-8.
doi: 10.1159/000014971.
PMID: 9678349
Prognosis
Roberts AL,
Morea A,
Amar A,
Zito A,
El-Sayed Moustafa JS,
Tomlinson M,
Bowyer RCE,
Zhang X,
Christiansen C,
Costeira R,
Steves CJ,
Mangino M,
Bell JT,
Wong CCY,
Vyse TJ,
Small KS
Elife
2022 Nov 22;11
doi: 10.7554/eLife.78263.
PMID: 36412098Free PMC Article
Tønne E,
Holdhus R,
Stansberg C,
Stray-Pedersen A,
Petersen K,
Brunner HG,
Gilissen C,
Hoischen A,
Prescott T,
Steen VM,
Fiskerstrand T
Eur J Hum Genet
2015 Dec;23(12):1652-6.
Epub 2015 Mar 4
doi: 10.1038/ejhg.2015.30.
PMID: 25735484Free PMC Article
Mengel-From J,
Thinggaard M,
Christiansen L,
Vaupel JW,
Orstavik KH,
Christensen K
Eur J Hum Genet
2012 Mar;20(3):361-4.
Epub 2011 Dec 7
doi: 10.1038/ejhg.2011.215.
PMID: 22146940Free PMC Article
Hogge WA,
Prosen TL,
Lanasa MC,
Huber HA,
Reeves MF
Am J Obstet Gynecol
2007 Apr;196(4):384.e1-6; discussion 384.e6-8.
doi: 10.1016/j.ajog.2006.12.012.
PMID: 17403428
Renault NK,
Dyack S,
Dobson MJ,
Costa T,
Lam WL,
Greer WL
Eur J Hum Genet
2007 Jun;15(6):628-37.
Epub 2007 Mar 7
doi: 10.1038/sj.ejhg.5201799.
PMID: 17342157
Clinical prediction guides
Juchniewicz P,
Kloska A,
Portalska K,
Jakóbkiewicz-Banecka J,
Węgrzyn G,
Liss J,
Głodek P,
Tukaj S,
Piotrowska E
Chromosome Res
2023 Jan 25;31(1):4.
doi: 10.1007/s10577-023-09717-9.
PMID: 36695960Free PMC Article
Delanne J,
Lecat M,
Blackburn PR,
Klee EW,
Stumpel CTRM,
Stegmann S,
Stevens SJC,
Nava C,
Heron D,
Keren B,
Mahida S,
Naidu S,
Babovic-Vuksanovic D,
Herkert JC,
Torring PM,
Kibæk M,
De Bie I,
Pfundt R,
Hendriks YMC,
Ousager LB,
Bend R,
Warren H,
Skinner SA,
Lyons MJ,
Pöe C,
Chevarin M,
Jouan T,
Garde A,
Thomas Q,
Kuentz P,
Tisserant E,
Duffourd Y,
Philippe C,
Faivre L,
Thauvin-Robinet C
Eur J Med Genet
2023 Jan;66(1):104670.
Epub 2022 Nov 19
doi: 10.1016/j.ejmg.2022.104670.
PMID: 36414205
Roberts AL,
Morea A,
Amar A,
Zito A,
El-Sayed Moustafa JS,
Tomlinson M,
Bowyer RCE,
Zhang X,
Christiansen C,
Costeira R,
Steves CJ,
Mangino M,
Bell JT,
Wong CCY,
Vyse TJ,
Small KS
Elife
2022 Nov 22;11
doi: 10.7554/eLife.78263.
PMID: 36412098Free PMC Article
Fang X,
Butler KM,
Abidi F,
Gass J,
Beisang A,
Feyma T,
Ryther RC,
Standridge S,
Heydemann P,
Jones M,
Haas R,
Lieberman DN,
Marsh ED,
Benke TA,
Skinner S,
Neul JL,
Percy AK,
Friez MJ,
Caylor RC
Mol Genet Genomic Med
2022 May;10(5):e1917.
Epub 2022 Mar 23
doi: 10.1002/mgg3.1917.
PMID: 35318820Free PMC Article
Shvetsova E,
Sofronova A,
Monajemi R,
Gagalova K,
Draisma HHM,
White SJ,
Santen GWE,
Chuva de Sousa Lopes SM,
Heijmans BT,
van Meurs J,
Jansen R,
Franke L,
Kiełbasa SM,
den Dunnen JT,
't Hoen PAC;
BIOS consortium;
GoNL consortium
Eur J Hum Genet
2019 Mar;27(3):455-465.
Epub 2018 Dec 14
doi: 10.1038/s41431-018-0291-3.
PMID: 30552425Free PMC Article