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2009 1
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52 results

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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: prapa m. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: prapa m. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716 Free PMC article.
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA, Welch CL, Mosimann C, Bzdęga K, West JD, Montani D, Eyries M, Mullen MP, Abman SH, Prapa M, Gräf S, Morrell NW, Hemnes AR, Perros F, Hamid R, Logan MPO, Whitsett J, Galambos C, Stankiewicz P, Chung WK, Austin ED. Karolak JA, et al. Among authors: prapa m. Am J Respir Crit Care Med. 2023 Apr 1;207(7):855-864. doi: 10.1164/rccm.202206-1039TR. Am J Respir Crit Care Med. 2023. PMID: 36367783 Free PMC article. Review.
Developing cell therapies as drug products.
Ciccocioppo R, Comoli P, Astori G, Del Bufalo F, Prapa M, Dominici M, Locatelli F. Ciccocioppo R, et al. Among authors: prapa m. Br J Pharmacol. 2021 Jan;178(2):262-279. doi: 10.1111/bph.15305. Epub 2020 Dec 9. Br J Pharmacol. 2021. PMID: 33140850 Free article. Review.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; for PAH-ICON associated with the PVRI. Eichstaedt CA, et al. Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36302552 Free PMC article.
Autologous anti-GD2 CAR T cells efficiently target primary human glioblastoma.
Chiavelli C, Prapa M, Rovesti G, Silingardi M, Neri G, Pugliese G, Trudu L, Dall'Ora M, Golinelli G, Grisendi G, Vinet J, Bestagno M, Spano C, Papapietro RV, Depenni R, Di Emidio K, Pasetto A, Nascimento Silva D, Feletti A, Berlucchi S, Iaccarino C, Pavesi G, Dominici M. Chiavelli C, et al. Among authors: prapa m. NPJ Precis Oncol. 2024 Feb 1;8(1):26. doi: 10.1038/s41698-024-00506-z. NPJ Precis Oncol. 2024. PMID: 38302615 Free PMC article.
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF; DDD Study28. Copeland H, et al. Among authors: prapa m. Genet Med Open. 2024 Oct 14;2:101864. doi: 10.1016/j.gimo.2024.101864. eCollection 2024. Genet Med Open. 2024. PMID: 39822267 Free PMC article.
GD2 CAR T cells against human glioblastoma.
Prapa M, Chiavelli C, Golinelli G, Grisendi G, Bestagno M, Di Tinco R, Dall'Ora M, Neri G, Candini O, Spano C, Petrachi T, Bertoni L, Carnevale G, Pugliese G, Depenni R, Feletti A, Iaccarino C, Pavesi G, Dominici M. Prapa M, et al. NPJ Precis Oncol. 2021 Oct 27;5(1):93. doi: 10.1038/s41698-021-00233-9. NPJ Precis Oncol. 2021. PMID: 34707200 Free PMC article.
52 results