Etiology
van Eeghen AM,
Stemkens D,
Fernández-Fructuoso JR,
Maruani A,
Hadzsiev K;
ERN ITHACA Guideline Working Group;
European Phelan-McDermid syndrome guideline consortium,
van Balkom IDC
Eur J Med Genet
2023 Jul;66(7):104747.
Epub 2023 Mar 30
doi: 10.1016/j.ejmg.2023.104747.
PMID: 37003574
Ziats CA,
Jain L,
McLarney B,
Vandenboom E,
DuPont BR,
Rogers C,
Sarasua S,
Nevado J,
Cordisco EL,
Phelan K,
Boccuto L
Eur J Med Genet
2020 Nov;63(11):104042.
Epub 2020 Aug 19
doi: 10.1016/j.ejmg.2020.104042.
PMID: 32822873
Armstrong NJ,
Mather KA,
Sargurupremraj M,
Knol MJ,
Malik R,
Satizabal CL,
Yanek LR,
Wen W,
Gudnason VG,
Dueker ND,
Elliott LT,
Hofer E,
Bis J,
Jahanshad N,
Li S,
Logue MA,
Luciano M,
Scholz M,
Smith AV,
Trompet S,
Vojinovic D,
Xia R,
Alfaro-Almagro F,
Ames D,
Amin N,
Amouyel P,
Beiser AS,
Brodaty H,
Deary IJ,
Fennema-Notestine C,
Gampawar PG,
Gottesman R,
Griffanti L,
Jack CR Jr,
Jenkinson M,
Jiang J,
Kral BG,
Kwok JB,
Lampe L,
C M Liewald D,
Maillard P,
Marchini J,
Bastin ME,
Mazoyer B,
Pirpamer L,
Rafael Romero J,
Roshchupkin GV,
Schofield PR,
Schroeter ML,
Stott DJ,
Thalamuthu A,
Trollor J,
Tzourio C,
van der Grond J,
Vernooij MW,
Witte VA,
Wright MJ,
Yang Q,
Morris Z,
Siggurdsson S,
Psaty B,
Villringer A,
Schmidt H,
Haberg AK,
van Duijn CM,
Jukema JW,
Dichgans M,
Sacco RL,
Wright CB,
Kremen WS,
Becker LC,
Thompson PM,
Mosley TH,
Wardlaw JM,
Ikram MA,
Adams HHH,
Seshadri S,
Sachdev PS,
Smith SM,
Launer L,
Longstreth W,
DeCarli C,
Schmidt R,
Fornage M,
Debette S,
Nyquist PA
Stroke
2020 Jul;51(7):2111-2121.
Epub 2020 Jun 10
doi: 10.1161/STROKEAHA.119.027544.
PMID: 32517579Free PMC Article
Marini S,
Devan WJ,
Radmanesh F,
Miyares L,
Poterba T,
Hansen BM,
Norrving B,
Jimenez-Conde J,
Giralt-Steinhauer E,
Elosua R,
Cuadrado-Godia E,
Soriano C,
Roquer J,
Kourkoulis CE,
Ayres AM,
Schwab K,
Tirschwell DL,
Selim M,
Brown DL,
Silliman SL,
Worrall BB,
Meschia JF,
Kidwell CS,
Montaner J,
Fernandez-Cadenas I,
Delgado P,
Greenberg SM,
Lindgren A,
Matouk C,
Sheth KN,
Woo D,
Anderson CD,
Rosand J,
Falcone GJ;
International Stroke Genetics Consortium
Stroke
2018 Jul;49(7):1618-1625.
Epub 2018 Jun 18
doi: 10.1161/STROKEAHA.117.020091.
PMID: 29915124Free PMC Article
Tabernero MD,
Maíllo A,
Nieto AB,
Diez-Tascón C,
Lara M,
Sousa P,
Otero A,
Castrillo A,
Patino-Alonso Mdel C,
Espinosa A,
Mackintosh C,
de Alava E,
Orfao A
Genes Chromosomes Cancer
2012 Jun;51(6):606-17.
Epub 2012 Feb 27
doi: 10.1002/gcc.21948.
PMID: 22371336
Diagnosis
van Eeghen AM,
Stemkens D,
Fernández-Fructuoso JR,
Maruani A,
Hadzsiev K;
ERN ITHACA Guideline Working Group;
European Phelan-McDermid syndrome guideline consortium,
van Balkom IDC
Eur J Med Genet
2023 Jul;66(7):104747.
Epub 2023 Mar 30
doi: 10.1016/j.ejmg.2023.104747.
PMID: 37003574
Cammarata-Scalisi F,
Callea M,
Martinelli D,
Willoughby CE,
Tadich AC,
Araya Castillo M,
Lacruz-Rengel MA,
Medina M,
Grimaldi P,
Bertini E,
Nevado J
Genes (Basel)
2022 Mar 12;13(3)
doi: 10.3390/genes13030504.
PMID: 35328058Free PMC Article
Ziats CA,
Jain L,
McLarney B,
Vandenboom E,
DuPont BR,
Rogers C,
Sarasua S,
Nevado J,
Cordisco EL,
Phelan K,
Boccuto L
Eur J Med Genet
2020 Nov;63(11):104042.
Epub 2020 Aug 19
doi: 10.1016/j.ejmg.2020.104042.
PMID: 32822873
Cusmano-Ozog K,
Manning MA,
Hoyme HE
Am J Med Genet C Semin Med Genet
2007 Nov 15;145C(4):393-8.
doi: 10.1002/ajmg.c.30155.
PMID: 17926345
Füzesi L,
Gunawan B,
Braun S,
Boeckmann W
J Urol
1994 Aug;152(2 Pt 1):471-2.
doi: 10.1016/s0022-5347(17)32766-0.
PMID: 8015093
Therapy
Hahm C,
Mun YC,
Seong CM,
Chung WS,
Huh J
Ann Lab Med
2012 Nov;32(6):445-9.
Epub 2012 Oct 17
doi: 10.3343/alm.2012.32.6.445.
PMID: 23130347Free PMC Article
Nowell PC,
Jensen J,
Gardner F
Humangenetik
1975 Oct 20;30(1):13-21.
doi: 10.1007/BF00273627.
PMID: 1058830
Prognosis
Hahm C,
Mun YC,
Seong CM,
Chung WS,
Huh J
Ann Lab Med
2012 Nov;32(6):445-9.
Epub 2012 Oct 17
doi: 10.3343/alm.2012.32.6.445.
PMID: 23130347Free PMC Article
Nowell PC,
Jensen J,
Gardner F
Humangenetik
1975 Oct 20;30(1):13-21.
doi: 10.1007/BF00273627.
PMID: 1058830
Clinical prediction guides
Armstrong NJ,
Mather KA,
Sargurupremraj M,
Knol MJ,
Malik R,
Satizabal CL,
Yanek LR,
Wen W,
Gudnason VG,
Dueker ND,
Elliott LT,
Hofer E,
Bis J,
Jahanshad N,
Li S,
Logue MA,
Luciano M,
Scholz M,
Smith AV,
Trompet S,
Vojinovic D,
Xia R,
Alfaro-Almagro F,
Ames D,
Amin N,
Amouyel P,
Beiser AS,
Brodaty H,
Deary IJ,
Fennema-Notestine C,
Gampawar PG,
Gottesman R,
Griffanti L,
Jack CR Jr,
Jenkinson M,
Jiang J,
Kral BG,
Kwok JB,
Lampe L,
C M Liewald D,
Maillard P,
Marchini J,
Bastin ME,
Mazoyer B,
Pirpamer L,
Rafael Romero J,
Roshchupkin GV,
Schofield PR,
Schroeter ML,
Stott DJ,
Thalamuthu A,
Trollor J,
Tzourio C,
van der Grond J,
Vernooij MW,
Witte VA,
Wright MJ,
Yang Q,
Morris Z,
Siggurdsson S,
Psaty B,
Villringer A,
Schmidt H,
Haberg AK,
van Duijn CM,
Jukema JW,
Dichgans M,
Sacco RL,
Wright CB,
Kremen WS,
Becker LC,
Thompson PM,
Mosley TH,
Wardlaw JM,
Ikram MA,
Adams HHH,
Seshadri S,
Sachdev PS,
Smith SM,
Launer L,
Longstreth W,
DeCarli C,
Schmidt R,
Fornage M,
Debette S,
Nyquist PA
Stroke
2020 Jul;51(7):2111-2121.
Epub 2020 Jun 10
doi: 10.1161/STROKEAHA.119.027544.
PMID: 32517579Free PMC Article
Marini S,
Devan WJ,
Radmanesh F,
Miyares L,
Poterba T,
Hansen BM,
Norrving B,
Jimenez-Conde J,
Giralt-Steinhauer E,
Elosua R,
Cuadrado-Godia E,
Soriano C,
Roquer J,
Kourkoulis CE,
Ayres AM,
Schwab K,
Tirschwell DL,
Selim M,
Brown DL,
Silliman SL,
Worrall BB,
Meschia JF,
Kidwell CS,
Montaner J,
Fernandez-Cadenas I,
Delgado P,
Greenberg SM,
Lindgren A,
Matouk C,
Sheth KN,
Woo D,
Anderson CD,
Rosand J,
Falcone GJ;
International Stroke Genetics Consortium
Stroke
2018 Jul;49(7):1618-1625.
Epub 2018 Jun 18
doi: 10.1161/STROKEAHA.117.020091.
PMID: 29915124Free PMC Article
Tabernero MD,
Maíllo A,
Nieto AB,
Diez-Tascón C,
Lara M,
Sousa P,
Otero A,
Castrillo A,
Patino-Alonso Mdel C,
Espinosa A,
Mackintosh C,
de Alava E,
Orfao A
Genes Chromosomes Cancer
2012 Jun;51(6):606-17.
Epub 2012 Feb 27
doi: 10.1002/gcc.21948.
PMID: 22371336
Cusmano-Ozog K,
Manning MA,
Hoyme HE
Am J Med Genet C Semin Med Genet
2007 Nov 15;145C(4):393-8.
doi: 10.1002/ajmg.c.30155.
PMID: 17926345
Verma R,
Kubendran S,
Das SK,
Jain S,
Brahmachari SK
J Hum Genet
2005;50(12):635-40.
Epub 2005 Oct 8
doi: 10.1007/s10038-005-0307-z.
PMID: 16215643