Etiology
Koza SA,
Tabet AC,
Bonaglia MC,
Andres S,
Anderlid BM,
Aten E,
Stiefsohn D;
European Phelan-McDermid syndrome consortium,
Evans DG,
van Ravenswaaij-Arts CMA,
Kant SG
Eur J Med Genet
2023 Jul;66(7):104773.
Epub 2023 Apr 28
doi: 10.1016/j.ejmg.2023.104773.
PMID: 37120077
Vieler LM,
Nilius-Eliliwi V,
Schroers R,
Vangala DB,
Nguyen HP,
Gerding WM
Genes (Basel)
2023 Mar 9;14(3)
doi: 10.3390/genes14030686.
PMID: 36980958Free PMC Article
Ueno M
Biomolecules
2023 Feb 15;13(2)
doi: 10.3390/biom13020370.
PMID: 36830739Free PMC Article
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Hajtovic S,
LoPresti MA,
Zhang L,
Katlowitz KA,
Kizek DJ,
Lam S
J Neurosurg Pediatr
2022 Jun 1;29(6):667-680.
Epub 2022 Mar 18
doi: 10.3171/2022.1.PEDS222.
PMID: 35303699
Diagnosis
Koza SA,
Tabet AC,
Bonaglia MC,
Andres S,
Anderlid BM,
Aten E,
Stiefsohn D;
European Phelan-McDermid syndrome consortium,
Evans DG,
van Ravenswaaij-Arts CMA,
Kant SG
Eur J Med Genet
2023 Jul;66(7):104773.
Epub 2023 Apr 28
doi: 10.1016/j.ejmg.2023.104773.
PMID: 37120077
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Hajtovic S,
LoPresti MA,
Zhang L,
Katlowitz KA,
Kizek DJ,
Lam S
J Neurosurg Pediatr
2022 Jun 1;29(6):667-680.
Epub 2022 Mar 18
doi: 10.3171/2022.1.PEDS222.
PMID: 35303699
Mantere T,
Neveling K,
Pebrel-Richard C,
Benoist M,
van der Zande G,
Kater-Baats E,
Baatout I,
van Beek R,
Yammine T,
Oorsprong M,
Hsoumi F,
Olde-Weghuis D,
Majdali W,
Vermeulen S,
Pauper M,
Lebbar A,
Stevens-Kroef M,
Sanlaville D,
Dupont JM,
Smeets D,
Hoischen A,
Schluth-Bolard C,
El Khattabi L
Am J Hum Genet
2021 Aug 5;108(8):1409-1422.
Epub 2021 Jul 7
doi: 10.1016/j.ajhg.2021.05.012.
PMID: 34237280Free PMC Article
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087
Therapy
Wannes S,
El Ahmer I,
Rjiba K,
Jemmali N,
Abdallah HH,
Haj RB,
Achour A,
Bouzidi H,
Saad A,
Mougou S,
Mahjoub B
Growth Horm IGF Res
2023 Aug;71:101550.
Epub 2023 Jul 25
doi: 10.1016/j.ghir.2023.101550.
PMID: 37531800
Hajtovic S,
LoPresti MA,
Zhang L,
Katlowitz KA,
Kizek DJ,
Lam S
J Neurosurg Pediatr
2022 Jun 1;29(6):667-680.
Epub 2022 Mar 18
doi: 10.3171/2022.1.PEDS222.
PMID: 35303699
Chen M,
Ke X,
Liang H,
Gong F,
Yang H,
Wang L,
Duan L,
Pan H,
Cao D,
Zhu H
Mol Genet Genomic Med
2021 Dec;9(12):e1842.
Epub 2021 Nov 8
doi: 10.1002/mgg3.1842.
PMID: 34747577Free PMC Article
Vignoli A,
Bisulli F,
Darra F,
Mastrangelo M,
Barba C,
Giordano L,
Turner K,
Zambrelli E,
Chiesa V,
Bova S,
Fiocchi I,
Peron A,
Naldi I,
Milito G,
Licchetta L,
Tinuper P,
Guerrini R,
Dalla Bernardina B,
Canevini MP
Epilepsy Res
2016 Dec;128:83-93.
Epub 2016 Oct 24
doi: 10.1016/j.eplepsyres.2016.10.004.
PMID: 27816898
Elens I,
Vanrykel K,
De Waele L,
Jansen K,
Segeren M,
Van Paesschen W,
Ceulemans B,
Boel M,
Frijns JP,
Buyse G,
Lagae L
Epilepsy Behav
2012 Apr;23(4):409-14.
Epub 2012 Mar 15
doi: 10.1016/j.yebeh.2012.02.008.
PMID: 22424860
Prognosis
Nishio J,
Nakayama S,
Chijiiwa Y,
Aoki M
Anticancer Res
2023 Oct;43(10):4295-4301.
doi: 10.21873/anticanres.16624.
PMID: 37772567
Ieremia E,
Thway K
Arch Pathol Lab Med
2014 Oct;138(10):1406-11.
doi: 10.5858/arpa.2013-0549-RS.
PMID: 25268202
Kaminska A,
Oguni H
Handb Clin Neurol
2013;111:641-52.
doi: 10.1016/B978-0-444-52891-9.00067-1.
PMID: 23622212
Phelan MC
Orphanet J Rare Dis
2008 May 27;3:14.
doi: 10.1186/1750-1172-3-14.
PMID: 18505557Free PMC Article
Tommerup N,
Lothe R
J Med Genet
1992 Dec;29(12):879-82.
doi: 10.1136/jmg.29.12.879.
PMID: 1336057Free PMC Article
Clinical prediction guides
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Paz-Y-Miño C,
Guevara-Aguirre J,
Paz-Y-Miño A,
Velarde F,
Armendáriz-Castillo I,
Yumiceba V,
Hernández JM,
García JL,
Leone PE
J Med Case Rep
2018 Nov 16;12(1):340.
doi: 10.1186/s13256-018-1879-5.
PMID: 30442194Free PMC Article
Vaudano AE,
Ruggieri A,
Vignoli A,
Canevini MP,
Meletti S
Epilepsy Behav
2015 Apr;45:155-63.
Epub 2015 Apr 3
doi: 10.1016/j.yebeh.2015.02.002.
PMID: 25843339
Hansson KB,
Gijsbers AC,
Oostdijk W,
Rehbock JJ,
de Snoo F,
Ruivenkamp CA,
Kant SG
Eur J Med Genet
2012 Dec;55(12):708-14.
Epub 2012 Aug 23
doi: 10.1016/j.ejmg.2012.08.004.
PMID: 22975011
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087