Etiology
Wojcik MH,
Srivastava S,
Agrawal PB,
Balci TB,
Callewaert B,
Calvo PL,
Carli D,
Caudle M,
Colaiacovo S,
Cross L,
Demetriou K,
Drazba K,
Dutra-Clarke M,
Edwards M,
Genetti CA,
Grange DK,
Hickey SE,
Isidor B,
Küry S,
Lachman HM,
Lavillaureix A,
Lyons MJ,
Marcelis C,
Marco EJ,
Martinez-Agosto JA,
Nowak C,
Pizzol A,
Planes M,
Prijoles EJ,
Riberi E,
Rush ET,
Russell BE,
Sachdev R,
Schmalz B,
Shears D,
Stevenson DA,
Wilson K,
Jansen S,
de Vries BBA,
Curry CJ
Am J Med Genet A
2023 Jul;191(7):1900-1910.
Epub 2023 May 14
doi: 10.1002/ajmg.a.63226.
PMID: 37183572Free PMC Article
Montoliu-Gaya L,
Alcolea D,
Ashton NJ,
Pegueroles J,
Levin J,
Bosch B,
Lantero-Rodriguez J,
Carmona-Iragui M,
Wagemann O,
Balasa M,
Kac PR,
Barroeta I,
Lladó A,
Brum WS,
Videla L,
Gonzalez-Ortiz F,
Benejam B,
Arranz Martínez JJ,
Karikari TK,
Nübling G,
Bejanin A,
Benedet AL,
Blesa R,
Lleó A,
Blennow K,
Sánchez-Valle R,
Zetterberg H,
Fortea J
EBioMedicine
2023 Apr;90:104547.
Epub 2023 Mar 30
doi: 10.1016/j.ebiom.2023.104547.
PMID: 37002988Free PMC Article
Boerwinkle AH,
Gordon BA,
Wisch J,
Flores S,
Henson RL,
Butt OH,
McKay N,
Chen CD,
Benzinger TLS,
Fagan AM,
Handen BL,
Christian BT,
Head E,
Mapstone M,
Rafii MS,
O'Bryant S,
Lai F,
Rosas HD,
Lee JH,
Silverman W,
Brickman AM,
Chhatwal JP,
Cruchaga C,
Perrin RJ,
Xiong C,
Hassenstab J,
McDade E,
Bateman RJ,
Ances BM;
Alzheimer's Biomarker Consortium-Down Syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2023 Jan;22(1):55-65.
doi: 10.1016/S1474-4422(22)00408-2.
PMID: 36517172Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
doi: 10.1002/ajmg.a.62222.
PMID: 33949759Free PMC Article
Diagnosis
Wojcik MH,
Srivastava S,
Agrawal PB,
Balci TB,
Callewaert B,
Calvo PL,
Carli D,
Caudle M,
Colaiacovo S,
Cross L,
Demetriou K,
Drazba K,
Dutra-Clarke M,
Edwards M,
Genetti CA,
Grange DK,
Hickey SE,
Isidor B,
Küry S,
Lachman HM,
Lavillaureix A,
Lyons MJ,
Marcelis C,
Marco EJ,
Martinez-Agosto JA,
Nowak C,
Pizzol A,
Planes M,
Prijoles EJ,
Riberi E,
Rush ET,
Russell BE,
Sachdev R,
Schmalz B,
Shears D,
Stevenson DA,
Wilson K,
Jansen S,
de Vries BBA,
Curry CJ
Am J Med Genet A
2023 Jul;191(7):1900-1910.
Epub 2023 May 14
doi: 10.1002/ajmg.a.63226.
PMID: 37183572Free PMC Article
Montoliu-Gaya L,
Alcolea D,
Ashton NJ,
Pegueroles J,
Levin J,
Bosch B,
Lantero-Rodriguez J,
Carmona-Iragui M,
Wagemann O,
Balasa M,
Kac PR,
Barroeta I,
Lladó A,
Brum WS,
Videla L,
Gonzalez-Ortiz F,
Benejam B,
Arranz Martínez JJ,
Karikari TK,
Nübling G,
Bejanin A,
Benedet AL,
Blesa R,
Lleó A,
Blennow K,
Sánchez-Valle R,
Zetterberg H,
Fortea J
EBioMedicine
2023 Apr;90:104547.
Epub 2023 Mar 30
doi: 10.1016/j.ebiom.2023.104547.
PMID: 37002988Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Saleh S,
Beyyumi E,
Al Kaabi A,
Hertecant J,
Barakat D,
Al Dhaheri NS,
Al-Gazali L,
Al Shamsi A
Clin Genet
2021 Nov;100(5):573-600.
Epub 2021 Aug 19
doi: 10.1111/cge.14044.
PMID: 34374989
Chang FC,
Westenberger A,
Dale RC,
Smith M,
Pall HS,
Perez-Dueñas B,
Grattan-Smith P,
Ouvrier RA,
Mahant N,
Hanna BC,
Hunter M,
Lawson JA,
Max C,
Sachdev R,
Meyer E,
Crimmins D,
Pryor D,
Morris JG,
Münchau A,
Grozeva D,
Carss KJ,
Raymond L,
Kurian MA,
Klein C,
Fung VS
Mov Disord
2016 Jul;31(7):1033-40.
Epub 2016 Apr 8
doi: 10.1002/mds.26598.
PMID: 27061943Free PMC Article
Prognosis
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
doi: 10.1002/ajmg.a.62222.
PMID: 33949759Free PMC Article
Lin L,
Zhang Y,
Pan H,
Wang J,
Qi Y,
Ma Y
Orphanet J Rare Dis
2020 Nov 11;15(1):317.
doi: 10.1186/s13023-020-01599-y.
PMID: 33176815Free PMC Article
Ruaud L,
Rice GI,
Cabrol C,
Piard J,
Rodero M,
van Eyk L,
Boucher-Brischoux E,
de Noordhout AM,
Maré R,
Scalais E,
Pauly F,
Debray FG,
Dobyns W,
Uggenti C,
Park JW,
Hur S,
Livingston JH,
Crow YJ,
Van Maldergem L
Hum Mutat
2018 Aug;39(8):1076-1080.
Epub 2018 Jun 4
doi: 10.1002/humu.23554.
PMID: 29782060Free PMC Article
Lee J,
Jung SC,
Hong YB,
Yoo JH,
Koo H,
Lee JH,
Hong HD,
Kim SB,
Chung KW,
Choi BO
Mol Med Rep
2016 Jul;14(1):33-40.
Epub 2016 May 4
doi: 10.3892/mmr.2016.5209.
PMID: 27150940Free PMC Article
Chang FC,
Westenberger A,
Dale RC,
Smith M,
Pall HS,
Perez-Dueñas B,
Grattan-Smith P,
Ouvrier RA,
Mahant N,
Hanna BC,
Hunter M,
Lawson JA,
Max C,
Sachdev R,
Meyer E,
Crimmins D,
Pryor D,
Morris JG,
Münchau A,
Grozeva D,
Carss KJ,
Raymond L,
Kurian MA,
Klein C,
Fung VS
Mov Disord
2016 Jul;31(7):1033-40.
Epub 2016 Apr 8
doi: 10.1002/mds.26598.
PMID: 27061943Free PMC Article
Clinical prediction guides
Wisch JK,
McKay NS,
Boerwinkle AH,
Kennedy J,
Flores S,
Handen BL,
Christian BT,
Head E,
Mapstone M,
Rafii MS,
O'Bryant SE,
Price JC,
Laymon CM,
Krinsky-McHale SJ,
Lai F,
Rosas HD,
Hartley SL,
Zaman S,
Lott IT,
Tudorascu D,
Zammit M,
Brickman AM,
Lee JH,
Bird TD,
Cohen A,
Chrem P,
Daniels A,
Chhatwal JP,
Cruchaga C,
Ibanez L,
Jucker M,
Karch CM,
Day GS,
Lee JH,
Levin J,
Llibre-Guerra J,
Li Y,
Lopera F,
Roh JH,
Ringman JM,
Supnet-Bell C,
van Dyck CH,
Xiong C,
Wang G,
Morris JC,
McDade E,
Bateman RJ,
Benzinger TLS,
Gordon BA,
Ances BM;
Alzheimer's Biomarker Consortium-Down syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2024 May;23(5):500-510.
doi: 10.1016/S1474-4422(24)00084-X.
PMID: 38631766Free PMC Article
Pavinato L,
Delle Vedove A,
Carli D,
Ferrero M,
Carestiato S,
Howe JL,
Agolini E,
Coviello DA,
van de Laar I,
Au PYB,
Di Gregorio E,
Fabbiani A,
Croci S,
Mencarelli MA,
Bruno LP,
Renieri A,
Veltra D,
Sofocleous C,
Faivre L,
Mazel B,
Safraou H,
Denommé-Pichon AS,
van Slegtenhorst MA,
Giesbertz N,
van Jaarsveld RH,
Childers A,
Rogers RC,
Novelli A,
De Rubeis S,
Buxbaum JD,
Scherer SW,
Ferrero GB,
Wirth B,
Brusco A
Brain
2023 Feb 13;146(2):534-548.
doi: 10.1093/brain/awac278.
PMID: 35979925Free PMC Article
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
doi: 10.1002/ajmg.a.62222.
PMID: 33949759Free PMC Article
Niikawa N,
Kuroki Y,
Kajii T,
Matsuura N,
Ishikiriyama S,
Tonoki H,
Ishikawa N,
Yamada Y,
Fujita M,
Umemoto H
Am J Med Genet
1988 Nov;31(3):565-89.
doi: 10.1002/ajmg.1320310312.
PMID: 3067577