Etiology
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
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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,
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Am J Med Genet A
2023 Jul;191(7):1900-1910.
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Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
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Duncan AR,
Vitobello A,
Collins SC,
Vancollie VE,
Lelliott CJ,
Rodan L,
Shi J,
Seman AR,
Agolini E,
Novelli A,
Prontera P,
Guillen Sacoto MJ,
Santiago-Sim T,
Trimouille A,
Goizet C,
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Philippe C,
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Am J Hum Genet
2020 Dec 3;107(6):1170-1177.
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Tsou AY,
Bulova P,
Capone G,
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McKelvey KD,
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Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA
2020 Oct 20;324(15):1543-1556.
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Diagnosis
Yang L,
Shu X,
Mao S,
Wang Y,
Du X,
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Genes (Basel)
2021 Jun 28;12(7)
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Tsou AY,
Bulova P,
Capone G,
Chicoine B,
Gelaro B,
Harville TO,
Martin BA,
McGuire DE,
McKelvey KD,
Peterson M,
Tyler C,
Wells M,
Whitten MS;
Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA
2020 Oct 20;324(15):1543-1556.
doi: 10.1001/jama.2020.17024.
PMID: 33079159
Salcedo-Arellano MJ,
Hagerman RJ,
Martínez-Cerdeño V
Gac Med Mex
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PMID: 32026885
Hoyme HE,
Kalberg WO,
Elliott AJ,
Blankenship J,
Buckley D,
Marais AS,
Manning MA,
Robinson LK,
Adam MP,
Abdul-Rahman O,
Jewett T,
Coles CD,
Chambers C,
Jones KL,
Adnams CM,
Shah PE,
Riley EP,
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Therapy
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Hayati-Rezvan P,
Kammeyer R,
Patel L,
Sannar EA,
Dwyer L,
Banerjee AK,
Khoshnood M,
Jafarpour S,
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Partridge R,
Gombolay GY,
Christy AL,
Real de Asua D,
Del Carmen Ortega M,
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Stanley MA,
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2021 Jan;62(1):120-127.
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Kalberg WO,
Elliott AJ,
Blankenship J,
Buckley D,
Marais AS,
Manning MA,
Robinson LK,
Adam MP,
Abdul-Rahman O,
Jewett T,
Coles CD,
Chambers C,
Jones KL,
Adnams CM,
Shah PE,
Riley EP,
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Pediatrics
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Grandjean P,
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Lancet Neurol
2014 Mar;13(3):330-8.
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Prognosis
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
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PMID: 37761804Free PMC Article
Oppermann H,
Marcos-Grañeda E,
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Isidor B,
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Hashim M,
Pagnamenta AT,
Race S,
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Frazier Z,
Maiwald R,
Pergande M,
Milani D,
Rinelli M,
Levy J,
Krey I,
Fontana P,
Lonardo F,
Riley S,
Kretzer J,
Rankin J,
Reis LM,
Semina EV,
Reuter MS,
Scherer SW,
Iascone M,
Weis D,
Fagerberg CR,
Brasch-Andersen C,
Hansen LK,
Kuechler A,
Noble N,
Gardham A,
Tenney J,
Rathore G,
Beck-Woedl S,
Haack TB,
Pavlidou DC,
Atallah I,
Vodopiutz J,
Janecke AR,
Hsieh TC,
Lesmann H,
Klinkhammer H,
Krawitz PM,
Lemke JR,
Jamra RA,
Nieto M,
Tümer Z,
Platzer K
Eur J Hum Genet
2023 Nov;31(11):1251-1260.
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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,
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Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
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Duncan AR,
Genetti CA,
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Jackson A,
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Shi J,
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Garza-Flores A,
Shahani D,
Saneto RP,
Zampino G,
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Agolini E,
Novelli A,
Blümlein U,
Haack TB,
Heinritz W,
Matzker E,
Alhaddad B,
Abou Jamra R,
Bartolomaeus T,
AlHamdan S,
Carapito R,
Isidor B,
Bahram S,
Ritter A,
Izumi K,
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Barel O,
Ben Zeev B,
Begtrup A,
Carere DA,
Mullegama SV,
Palculict TB,
Calame DG,
Schwan K,
Aycinena ARP,
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Genomics England Research Consortium,
Douzgou S,
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Am J Hum Genet
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Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
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PMID: 33597769
Clinical prediction guides
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
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Genes (Basel)
2023 Feb 11;14(2)
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PMID: 36833393Free PMC Article
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
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
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Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
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PMID: 33597769
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Warren KR,
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Epub 2016 Jul 27
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