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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: mampel a. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM. Gonzalez A, et al. Among authors: mampel a. Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24. Breast Cancer Res Treat. 2022. PMID: 35610400
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva C, Ayala-Madrigal ML, Del Monte JS, Quispe R, Recalde A, Neffa F, Sarroca C, de Campos Reis Galvão H, Golubicki M, Piñero TA, Kalfayan PG, Ferro FA, Gonzalez ML, Pérez-Mayoral J, Pimenta CAM, Uyaban SPB, Protzel A, Chávez G, Dueñas M, Gil MLG, Spirandelli E, Chialina S, Echeverry M, Fuenmayor LJP, Torres M, Palma TFB, Héritas NC, Martin C, Suárez A, Vallejo M, Rafaela de Souza Timoteo A, Ayala CA, Jaramillo-Koupermann G, Hernández-Sandoval JA, Guerrero AH, Dominguez-Barrera C, Bazo-Alvarez JC, Wernhoff P, Plazzer JP, Balavarca Y, Hovig E, Møller P, Dominguez-Valentin M; collaboration with LA-GETH. Della Valle A, et al. Among authors: mampel a. Eur J Cancer. 2019 Sep;119:112-121. doi: 10.1016/j.ejca.2019.07.017. Epub 2019 Aug 20. Eur J Cancer. 2019. PMID: 31442815
Cantu syndrome and lymphoedema.
García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PKR, Ramirez-Garcia S, Sanchez-Corona J. García-Cruz D, et al. Among authors: mampel a. Clin Dysmorphol. 2011 Jan;20(1):32-37. doi: 10.1097/MCD.0b013e32833d015c. Clin Dysmorphol. 2011. PMID: 20890180
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