Etiology
Lin AE,
Scimone ER,
Thom RP,
Balaguru D,
Kinane TB,
Moschovis PP,
Cohen MS,
Tan W,
Hague CD,
Dannheim K,
Levitsky LL,
Lilly E,
DiGiacomo DV,
Masse KM,
Kadzielski SM,
Zar-Kessler CA,
Ginns LC,
Neumeyer AM,
Colvin MK,
Elder JS,
Learn CP,
Mou H,
Weagle KM,
Buch KA,
Butler WE,
Alhadid K,
Musolino PL,
Sultana S,
Bandyopadhyay D,
Rapalino O,
Peacock ZS,
Chou EL,
Heidary G,
Dorfman AT,
Morris SA,
Bergin JD,
Rayment JH,
Schimmenti LA,
Lindsay ME;
MGH Myhre Syndrome Study Group
Am J Med Genet A
2024 Oct;194(10):e63638.
Epub 2024 May 23
doi: 10.1002/ajmg.a.63638.
PMID: 38779990
Gorijala P,
Aslam MM,
Dang LT,
Xicota L,
Fernandez MV,
Sung YJ,
Fan KH,
Feingold E,
Surace EI,
Chhatwal JP,
Hom CL;
Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI);
NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators,
Hartley SL,
Hassenstab J,
Perrin RJ,
Mapstone M,
Zaman SH,
Ances BM,
Kamboh MI,
Lee JH,
Cruchaga C
Alzheimers Dement
2024 Feb;20(2):1038-1049.
Epub 2023 Oct 19
doi: 10.1002/alz.13506.
PMID: 37855447Free PMC Article
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
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
Vogel F
Hum Genet
1979 Nov 1;52(1):1-54.
doi: 10.1007/BF00284597.
PMID: 393614
Diagnosis
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
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
Burglen L,
Van Hoeymissen E,
Qebibo L,
Barth M,
Belnap N,
Boschann F,
Depienne C,
De Clercq K,
Douglas AGL,
Fitzgerald MP,
Foulds N,
Garel C,
Helbig I,
Held K,
Horn D,
Janssen A,
Kaindl AM,
Narayanan V,
Prager C,
Rupin-Mas M,
Afenjar A,
Zhao S,
Ramaekers VT,
Ruggiero SM,
Thomas S,
Valence S,
Van Maldergem L,
Rohacs T,
Rodriguez D,
Dyment D,
Voets T,
Vriens J
Elife
2023 Jan 17;12
doi: 10.7554/eLife.81032.
PMID: 36648066Free 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
Schlögel MJ,
Mendola A,
Fastré E,
Vasudevan P,
Devriendt K,
de Ravel TJ,
Van Esch H,
Casteels I,
Arroyo Carrera I,
Cristofoli F,
Fieggen K,
Jones K,
Lipson M,
Balikova I,
Singer A,
Soller M,
Mercedes Villanueva M,
Revencu N,
Boon LM,
Brouillard P,
Vikkula M
Orphanet J Rare Dis
2015 May 2;10:52.
doi: 10.1186/s13023-015-0271-4.
PMID: 25934493Free PMC Article
Therapy
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Jinxiu L,
Shuimei L,
Ming X,
Jonathan LC,
Xiangju L,
Wenyuan D
Medicine (Baltimore)
2020 Apr;99(16):e19813.
doi: 10.1097/MD.0000000000019813.
PMID: 32311999Free PMC Article
Amudhavalli SM,
Hanson R,
Angle B,
Bontempo K,
Gripp KW
Am J Med Genet A
2018 Jul;176(7):1648-1656.
doi: 10.1002/ajmg.a.38832.
PMID: 30160832
Walz K,
Cohen D,
Neilsen PM,
Foster J 2nd,
Brancati F,
Demir K,
Fisher R,
Moffat M,
Verbeek NE,
Bjørgo K,
Lo Castro A,
Curatolo P,
Novelli G,
Abad C,
Lei C,
Zhang L,
Diaz-Horta O,
Young JI,
Callen DF,
Tekin M
Hum Genet
2015 Feb;134(2):181-90.
Epub 2014 Nov 21
doi: 10.1007/s00439-014-1509-2.
PMID: 25413698
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Prognosis
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Thomas Q,
Gautier T,
Marafi D,
Besnard T,
Willems M,
Moutton S,
Isidor B,
Cogné B,
Conrad S,
Tenconi R,
Iascone M,
Sorlin A,
Masurel A,
Dabir T,
Jackson A,
Banka S,
Delanne J,
Lupski JR,
Saadi NW,
Alkuraya FS,
Zahrani FA,
Agrawal PB,
England E,
Madden JA,
Posey JE,
Burglen L,
Rodriguez D,
Chevarin M,
Nguyen S,
Mau-Them FT,
Duffourd Y,
Garret P,
Bruel AL,
Callier P,
Marle N,
Denomme-Pichon AS,
Duplomb L,
Philippe C,
Thauvin-Robinet C,
Govin J,
Faivre L,
Vitobello A
Genet Med
2021 Oct;23(10):1901-1911.
Epub 2021 Jun 10
doi: 10.1038/s41436-021-01218-6.
PMID: 34113008
Rudenskaya GE,
Kadnikova VA,
Ryzhkova OP,
Bessonova LA,
Dadali EL,
Guseva DS,
Markova TV,
Khmelkova DN,
Polyakov AV
BMC Neurol
2020 Aug 3;20(1):290.
doi: 10.1186/s12883-020-01872-4.
PMID: 32746806Free PMC Article
Clinical prediction guides
Lin AE,
Scimone ER,
Thom RP,
Balaguru D,
Kinane TB,
Moschovis PP,
Cohen MS,
Tan W,
Hague CD,
Dannheim K,
Levitsky LL,
Lilly E,
DiGiacomo DV,
Masse KM,
Kadzielski SM,
Zar-Kessler CA,
Ginns LC,
Neumeyer AM,
Colvin MK,
Elder JS,
Learn CP,
Mou H,
Weagle KM,
Buch KA,
Butler WE,
Alhadid K,
Musolino PL,
Sultana S,
Bandyopadhyay D,
Rapalino O,
Peacock ZS,
Chou EL,
Heidary G,
Dorfman AT,
Morris SA,
Bergin JD,
Rayment JH,
Schimmenti LA,
Lindsay ME;
MGH Myhre Syndrome Study Group
Am J Med Genet A
2024 Oct;194(10):e63638.
Epub 2024 May 23
doi: 10.1002/ajmg.a.63638.
PMID: 38779990
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Thomas Q,
Gautier T,
Marafi D,
Besnard T,
Willems M,
Moutton S,
Isidor B,
Cogné B,
Conrad S,
Tenconi R,
Iascone M,
Sorlin A,
Masurel A,
Dabir T,
Jackson A,
Banka S,
Delanne J,
Lupski JR,
Saadi NW,
Alkuraya FS,
Zahrani FA,
Agrawal PB,
England E,
Madden JA,
Posey JE,
Burglen L,
Rodriguez D,
Chevarin M,
Nguyen S,
Mau-Them FT,
Duffourd Y,
Garret P,
Bruel AL,
Callier P,
Marle N,
Denomme-Pichon AS,
Duplomb L,
Philippe C,
Thauvin-Robinet C,
Govin J,
Faivre L,
Vitobello A
Genet Med
2021 Oct;23(10):1901-1911.
Epub 2021 Jun 10
doi: 10.1038/s41436-021-01218-6.
PMID: 34113008
Vogel F
Hum Genet
1979 Nov 1;52(1):1-54.
doi: 10.1007/BF00284597.
PMID: 393614