Etiology
Vuillaume ML,
Moizard MP,
Baumer A,
Cottereau E,
Brioude F,
Rauch A,
Toutain A
Eur J Hum Genet
2019 Apr;27(4):663-668.
Epub 2019 Jan 25
doi: 10.1038/s41431-019-0339-z.
PMID: 30683921Free PMC Article
Cottereau E,
Mortemousque I,
Moizard MP,
Bürglen L,
Lacombe D,
Gilbert-Dussardier B,
Sigaudy S,
Boute O,
David A,
Faivre L,
Amiel J,
Robertson R,
Viana Ramos F,
Bieth E,
Odent S,
Demeer B,
Mathieu M,
Gaillard D,
Van Maldergem L,
Baujat G,
Maystadt I,
Héron D,
Verloes A,
Philip N,
Cormier-Daire V,
Frouté MF,
Pinson L,
Blanchet P,
Sarda P,
Willems M,
Jacquinet A,
Ratbi I,
Van Den Ende J,
Lackmy-Port Lis M,
Goldenberg A,
Bonneau D,
Rossignol S,
Toutain A
Am J Med Genet C Semin Med Genet
2013 May;163C(2):92-105.
Epub 2013 Apr 18
doi: 10.1002/ajmg.c.31360.
PMID: 23606591
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article
DeBaun MR,
Ess J,
Saunders S
Mol Genet Metab
2001 Apr;72(4):279-86.
doi: 10.1006/mgme.2001.3150.
PMID: 11286501
Lin AE,
Neri G,
Hughes-Benzie R,
Weksberg R
Am J Med Genet
1999 Apr 23;83(5):378-81.
PMID: 10232747
Diagnosis
Nussbaumer G,
Benesch M
Am J Med Genet A
2022 Sep;188(9):2527-2535.
Epub 2022 Apr 28
doi: 10.1002/ajmg.a.62767.
PMID: 35478319Free PMC Article
Guo Y,
Zhang H,
Fan L,
Chen J,
Zhang X,
Yang H,
Sun Y
BMC Pregnancy Childbirth
2022 Jan 17;22(1):42.
doi: 10.1186/s12884-021-04309-z.
PMID: 35038998Free PMC Article
Urakami T
Minerva Pediatr
2020 Dec;72(6):472-483.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05971-X.
PMID: 32748612
Magini P,
Palombo F,
Boito S,
Lanzoni G,
Mongelli P,
Rizzuti T,
Baccarin M,
Pippucci T,
Seri M,
Lalatta F
Am J Med Genet A
2016 Dec;170(12):3258-3264.
Epub 2016 Sep 9
doi: 10.1002/ajmg.a.37873.
PMID: 27612164
Tenorio J,
Arias P,
Martínez-Glez V,
Santos F,
García-Miñaur S,
Nevado J,
Lapunzina P
Orphanet J Rare Dis
2014 Sep 20;9:138.
doi: 10.1186/s13023-014-0138-0.
PMID: 25238977Free PMC Article
Therapy
Quesada-López T,
Cereijo R,
Blasco-Roset A,
Mestres-Arenas A,
Prieto P,
Domingo JC,
Villarroya F,
Domingo P,
Giralt M
Biochem Pharmacol
2024 Feb;220:116010.
Epub 2023 Dec 26
doi: 10.1016/j.bcp.2023.116010.
PMID: 38154544
Löffler D,
Landgraf K,
Körner A,
Kratzsch J,
Kirkby KC,
Himmerich H
J Psychiatr Res
2016 Jan;72:37-42.
Epub 2015 Oct 20
doi: 10.1016/j.jpsychires.2015.10.008.
PMID: 26524413
Villarreal DD,
Villarreal H,
Paez AM,
Peppas D,
Lynch J,
Roeder E,
Powers GC
Am J Med Genet A
2013 Dec;161A(12):3121-5.
Epub 2013 Oct 2
doi: 10.1002/ajmg.a.36086.
PMID: 24115482
Sabin MA,
Werther GA,
Kiess W
Best Pract Res Clin Endocrinol Metab
2011 Feb;25(1):207-20.
doi: 10.1016/j.beem.2010.09.010.
PMID: 21396586
Ho M,
Kim H
Eur J Cancer
2011 Feb;47(3):333-8.
Epub 2010 Nov 26
doi: 10.1016/j.ejca.2010.10.024.
PMID: 21112773Free PMC Article
Prognosis
Fiandrino G,
Arossa A,
Ghirardello S,
Kalantari S,
Rossi C,
Bonasoni MP,
Cesari S,
Rizzuti T,
Giorgio E,
Bassanese F,
Scatigno AL,
Meroni A,
Melito C,
Feltri M,
Longo S,
Figar TA,
Andorno A,
Gelli MC,
Bertozzi M,
Spinillo A,
Riccipetitoni G,
Valente EM,
Paulli M,
Sirchia F
Placenta
2022 Aug;126:119-124.
Epub 2022 Jun 30
doi: 10.1016/j.placenta.2022.06.011.
PMID: 35796063
Urakami T
Minerva Pediatr
2020 Dec;72(6):472-483.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05971-X.
PMID: 32748612
Vuillaume ML,
Moizard MP,
Baumer A,
Cottereau E,
Brioude F,
Rauch A,
Toutain A
Eur J Hum Genet
2019 Apr;27(4):663-668.
Epub 2019 Jan 25
doi: 10.1038/s41431-019-0339-z.
PMID: 30683921Free PMC Article
Cottereau E,
Mortemousque I,
Moizard MP,
Bürglen L,
Lacombe D,
Gilbert-Dussardier B,
Sigaudy S,
Boute O,
David A,
Faivre L,
Amiel J,
Robertson R,
Viana Ramos F,
Bieth E,
Odent S,
Demeer B,
Mathieu M,
Gaillard D,
Van Maldergem L,
Baujat G,
Maystadt I,
Héron D,
Verloes A,
Philip N,
Cormier-Daire V,
Frouté MF,
Pinson L,
Blanchet P,
Sarda P,
Willems M,
Jacquinet A,
Ratbi I,
Van Den Ende J,
Lackmy-Port Lis M,
Goldenberg A,
Bonneau D,
Rossignol S,
Toutain A
Am J Med Genet C Semin Med Genet
2013 May;163C(2):92-105.
Epub 2013 Apr 18
doi: 10.1002/ajmg.c.31360.
PMID: 23606591
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article
Clinical prediction guides
Fiandrino G,
Arossa A,
Ghirardello S,
Kalantari S,
Rossi C,
Bonasoni MP,
Cesari S,
Rizzuti T,
Giorgio E,
Bassanese F,
Scatigno AL,
Meroni A,
Melito C,
Feltri M,
Longo S,
Figar TA,
Andorno A,
Gelli MC,
Bertozzi M,
Spinillo A,
Riccipetitoni G,
Valente EM,
Paulli M,
Sirchia F
Placenta
2022 Aug;126:119-124.
Epub 2022 Jun 30
doi: 10.1016/j.placenta.2022.06.011.
PMID: 35796063
Urakami T
Minerva Pediatr
2020 Dec;72(6):472-483.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05971-X.
PMID: 32748612
Vuillaume ML,
Moizard MP,
Baumer A,
Cottereau E,
Brioude F,
Rauch A,
Toutain A
Eur J Hum Genet
2019 Apr;27(4):663-668.
Epub 2019 Jan 25
doi: 10.1038/s41431-019-0339-z.
PMID: 30683921Free PMC Article
Tenorio J,
Arias P,
Martínez-Glez V,
Santos F,
García-Miñaur S,
Nevado J,
Lapunzina P
Orphanet J Rare Dis
2014 Sep 20;9:138.
doi: 10.1186/s13023-014-0138-0.
PMID: 25238977Free PMC Article
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article