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.
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Burdeus-Olavarrieta M,
San José-Cáceres A,
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J Neurodev Disord
2021 Jul 10;13(1):26.
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Srikanth S,
Jain L,
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PLoS One
2021;16(7):e0253859.
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Neeb A,
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Miranda S,
Buroni L,
Yuan W,
Athie A,
Casals T,
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Rodrigues DN,
Gurel B,
Rescigno P,
Rekowski J,
Welti J,
Riisnaes R,
Gil V,
Ning J,
Wagner V,
Casanova-Salas I,
Cordoba S,
Castro N,
Fenor de la Maza MD,
Seed G,
Chandran K,
Ferreira A,
Figueiredo I,
Bertan C,
Bianchini D,
Aversa C,
Paschalis A,
Gonzalez M,
Morales-Barrera R,
Suarez C,
Carles J,
Swain A,
Sharp A,
Gil J,
Serra V,
Lord C,
Carreira S,
Mateo J,
de Bono JS
Eur Urol
2021 Feb;79(2):200-211.
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Zuffardi O,
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Clin Genet
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Diagnosis
Schön M,
Lapunzina P,
Nevado J,
Mattina T,
Gunnarsson C,
Hadzsiev K,
Verpelli C,
Bourgeron T,
Jesse S,
van Ravenswaaij-Arts CMA;
European Phelan-McDermid syndrome consortium,
Hennekam RC
Eur J Med Genet
2023 Jul;66(7):104754.
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Cammarata-Scalisi F,
Callea M,
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Tadich AC,
Araya Castillo M,
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Genes (Basel)
2022 Mar 12;13(3)
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PMID: 35328058Free PMC Article
Burdeus-Olavarrieta M,
San José-Cáceres A,
García-Alcón A,
González-Peñas J,
Hernández-Jusdado P,
Parellada-Redondo M
J Neurodev Disord
2021 Jul 10;13(1):26.
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PMID: 34246244Free PMC Article
Neeb A,
Herranz N,
Arce-Gallego S,
Miranda S,
Buroni L,
Yuan W,
Athie A,
Casals T,
Carmichael J,
Rodrigues DN,
Gurel B,
Rescigno P,
Rekowski J,
Welti J,
Riisnaes R,
Gil V,
Ning J,
Wagner V,
Casanova-Salas I,
Cordoba S,
Castro N,
Fenor de la Maza MD,
Seed G,
Chandran K,
Ferreira A,
Figueiredo I,
Bertan C,
Bianchini D,
Aversa C,
Paschalis A,
Gonzalez M,
Morales-Barrera R,
Suarez C,
Carles J,
Swain A,
Sharp A,
Gil J,
Serra V,
Lord C,
Carreira S,
Mateo J,
de Bono JS
Eur Urol
2021 Feb;79(2):200-211.
Epub 2020 Nov 8
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PMID: 33176972
Birkbak NJ,
Wang ZC,
Kim JY,
Eklund AC,
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Tian R,
Bowman-Colin C,
Li Y,
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Cancer Discov
2012 Apr;2(4):366-375.
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Therapy
Zuffardi O,
Fichera M,
Bonaglia MC
Eur J Med Genet
2022 Aug;65(8):104532.
Epub 2022 Jun 17
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PMID: 35724817
Neeb A,
Herranz N,
Arce-Gallego S,
Miranda S,
Buroni L,
Yuan W,
Athie A,
Casals T,
Carmichael J,
Rodrigues DN,
Gurel B,
Rescigno P,
Rekowski J,
Welti J,
Riisnaes R,
Gil V,
Ning J,
Wagner V,
Casanova-Salas I,
Cordoba S,
Castro N,
Fenor de la Maza MD,
Seed G,
Chandran K,
Ferreira A,
Figueiredo I,
Bertan C,
Bianchini D,
Aversa C,
Paschalis A,
Gonzalez M,
Morales-Barrera R,
Suarez C,
Carles J,
Swain A,
Sharp A,
Gil J,
Serra V,
Lord C,
Carreira S,
Mateo J,
de Bono JS
Eur Urol
2021 Feb;79(2):200-211.
Epub 2020 Nov 8
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PMID: 33176972
Hamid A,
Petreaca B,
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Prognosis
Vitrac A,
Leblond CS,
Rolland T,
Cliquet F,
Mathieu A,
Maruani A,
Delorme R,
Schön M,
Grabrucker AM,
van Ravenswaaij-Arts C,
Phelan K,
Tabet AC,
Bourgeron T
Eur J Med Genet
2023 May;66(5):104732.
Epub 2023 Feb 21
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PMID: 36822569
Burdeus-Olavarrieta M,
San José-Cáceres A,
García-Alcón A,
González-Peñas J,
Hernández-Jusdado P,
Parellada-Redondo M
J Neurodev Disord
2021 Jul 10;13(1):26.
doi: 10.1186/s11689-021-09370-5.
PMID: 34246244Free PMC Article
Srikanth S,
Jain L,
Zepeda-Mendoza C,
Cascio L,
Jones K,
Pauly R,
DuPont B,
Rogers C,
Sarasua S,
Phelan K,
Morton C,
Boccuto L
PLoS One
2021;16(7):e0253859.
Epub 2021 Jul 6
doi: 10.1371/journal.pone.0253859.
PMID: 34228749Free PMC Article
Birkbak NJ,
Wang ZC,
Kim JY,
Eklund AC,
Li Q,
Tian R,
Bowman-Colin C,
Li Y,
Greene-Colozzi A,
Iglehart JD,
Tung N,
Ryan PD,
Garber JE,
Silver DP,
Szallasi Z,
Richardson AL
Cancer Discov
2012 Apr;2(4):366-375.
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PMID: 22576213Free PMC Article
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Clinical prediction guides
Vitrac A,
Leblond CS,
Rolland T,
Cliquet F,
Mathieu A,
Maruani A,
Delorme R,
Schön M,
Grabrucker AM,
van Ravenswaaij-Arts C,
Phelan K,
Tabet AC,
Bourgeron T
Eur J Med Genet
2023 May;66(5):104732.
Epub 2023 Feb 21
doi: 10.1016/j.ejmg.2023.104732.
PMID: 36822569
Boccuto L,
Mitz A,
Abenavoli L,
Sarasua SM,
Bennett W,
Rogers C,
DuPont B,
Phelan K
Genes (Basel)
2022 Mar 17;13(3)
doi: 10.3390/genes13030528.
PMID: 35328081Free PMC Article
Burdeus-Olavarrieta M,
San José-Cáceres A,
García-Alcón A,
González-Peñas J,
Hernández-Jusdado P,
Parellada-Redondo M
J Neurodev Disord
2021 Jul 10;13(1):26.
doi: 10.1186/s11689-021-09370-5.
PMID: 34246244Free PMC Article
Srikanth S,
Jain L,
Zepeda-Mendoza C,
Cascio L,
Jones K,
Pauly R,
DuPont B,
Rogers C,
Sarasua S,
Phelan K,
Morton C,
Boccuto L
PLoS One
2021;16(7):e0253859.
Epub 2021 Jul 6
doi: 10.1371/journal.pone.0253859.
PMID: 34228749Free PMC Article
Birkbak NJ,
Wang ZC,
Kim JY,
Eklund AC,
Li Q,
Tian R,
Bowman-Colin C,
Li Y,
Greene-Colozzi A,
Iglehart JD,
Tung N,
Ryan PD,
Garber JE,
Silver DP,
Szallasi Z,
Richardson AL
Cancer Discov
2012 Apr;2(4):366-375.
Epub 2012 Mar 22
doi: 10.1158/2159-8290.CD-11-0206.
PMID: 22576213Free PMC Article