Búsqueda | Portal de Búsqueda de la BVS España

1.

Massively parallel base editing to map variant effects in human hematopoiesis.

Martin-Rufino, Jorge D; Castano, Nicole; Pang, Michael; Grody, Emanuelle I; Joubran, Samantha; Caulier, Alexis; Wahlster, Lara; Li, Tongqing; Qiu, Xiaojie; Riera-Escandell, Anna Maria; Newby, Gregory A; Al'Khafaji, Aziz; Chaudhary, Santosh; Black, Susan; Weng, Chen; Munson, Glen; Liu, David R; Wlodarski, Marcin W; Sims, Kacie; Oakley, Jamie H; Fasano, Ross M; Xavier, Ramnik J; Lander, Eric S; Klein, Daryl E; Sankaran, Vijay G.

Cell; 186(11): 2456-2474.e24, 2023 05 25.

Artículo en Inglés | MEDLINE | ID: mdl-37137305

2.

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy, Senthilkumar; Lebrecht, Dirk; Schanze, Denny; Schanze, Ina; Wieland, Ilse; Andrieux, Geoffroy; Metzger, Patrick; Hess, Maria; Albert, Michael H; Borkhardt, Arndt; Bresters, Dorine; Buechner, Jochen; Catala, Albert; De Haas, Valerie; Dworzak, Michael; Erlacher, Miriam; Hasle, Henrik; Jahnukainen, Kirsi; Locatelli, Franco; Masetti, Riccardo; Stary, Jan; Turkiewicz, Dominik; Vinci, Luca; Wlodarski, Marcin W; Yoshimi, Ayami; Boerries, Melanie; Niemeyer, Charlotte M; Zenker, Martin; Flotho, Christian.

Br J Haematol; 204(2): 595-605, 2024 02.

Artículo en Inglés | MEDLINE | ID: mdl-37945316

3.

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.

Sharma, Richa; Sahoo, Sushree S; Honda, Masayoshi; Granger, Sophie L; Goodings, Charnise; Sanchez, Louis; Künstner, Axel; Busch, Hauke; Beier, Fabian; Pruett-Miller, Shondra M; Valentine, Marcus B; Fernandez, Alfonso G; Chang, Ti-Cheng; Géli, Vincent; Churikov, Dmitri; Hirschi, Sandrine; Pastor, Victor B; Boerries, Melanie; Lauten, Melchior; Kelaidi, Charikleia; Cooper, Megan A; Nicholas, Sarah; Rosenfeld, Jill A; Polychronopoulou, Sophia; Kannengiesser, Caroline; Saintomé, Carole; Niemeyer, Charlotte M; Revy, Patrick; Wold, Marc S; Spies, Maria; Erlacher, Miriam; Coulon, Stéphane; Wlodarski, Marcin W.

Blood; 139(7): 1039-1051, 2022 02 17.

Artículo en Inglés | MEDLINE | ID: mdl-34767620

4.

Reduced toxicity conditioning for hematopoietic stem cell transplantation in children with Diamond-Blackfan anemia.

Qudeimat, Amr; Suryaprakash, Shruthi; Madden, Renee; Srinivasan, Ashok; Wlodarski, Marcin W; Bhoopalan, Senthil Velan.

Haematologica; 2024 May 30.

Artículo en Inglés | MEDLINE | ID: mdl-38813735

5.

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.

Erlacher, Miriam; Andresen, Felicia; Sukova, Martina; Stary, Jan; De Moerloose, Barbara; Bosch, Jutte van der Werff Ten; Dworzak, Michael; Seidel, Markus G; Polychronopoulou, Sophia; Beier, Rita; Kratz, Christian P; Nathrath, Michaela; Frühwald, Michael C; Göhring, Gudrun; Bergmann, Anke K; Mayerhofer, Christina; Lebrecht, Dirk; Ramamoorthy, Senthilkumar; Yoshimi, Ayami; Strahm, Brigitte; Wlodarski, Marcin W; Niemeyer, Charlotte M.

Haematologica; 109(2): 422-430, 2024 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-37584291

6.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Duijkers, Floor A; McDonald, Andrew; Janssens, Georges E; Lezzerini, Marco; Jongejan, Aldo; van Koningsbruggen, Silvana; Leeuwenburgh-Pronk, Wendela G; Wlodarski, Marcin W; Moutton, Sébastien; Tran-Mau-Them, Frédéric; Thauvin-Robinet, Christel; Faivre, Laurence; Monaghan, Kristin G; Smol, Thomas; Boute-Benejean, Odile; Ladda, Roger L; Sell, Susan L; Bruel, Ange-Line; Houtkooper, Riekelt H; MacInnes, Alyson W.

Am J Hum Genet; 104(6): 1040-1059, 2019 06 06.

Artículo en Inglés | MEDLINE | ID: mdl-31079900

7.

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.

Kotmayer, Lili; Romero-Moya, Damia; Marin-Bejar, Oskar; Kozyra, Emilia; Català, Albert; Bigas, Anna; Wlodarski, Marcin W; Bödör, Csaba; Giorgetti, Alessandra.

Br J Haematol; 199(4): 482-495, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35753998

8.

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Lezzerini, Marco; Penzo, Marianna; O'Donohue, Marie-Françoise; Marques Dos Santos Vieira, Carolina; Saby, Manon; Elfrink, Hyung L; Diets, Illja J; Hesse, Anne-Marie; Couté, Yohann; Gastou, Marc; Nin-Velez, Alexandra; Nikkels, Peter G J; Olson, Alexandra N; Zonneveld-Huijssoon, Evelien; Jongmans, Marjolijn C J; Zhang, GuangJun; van Weeghel, Michel; Houtkooper, Riekelt H; Wlodarski, Marcin W; Kuiper, Roland P; Bierings, Marc B; van der Werff Ten Bosch, Jutte; Leblanc, Thierry; Montanaro, Lorenzo; Dinman, Jonathan D; Da Costa, Lydie; Gleizes, Pierre-Emmanuel; MacInnes, Alyson W.

Nucleic Acids Res; 48(2): 770-787, 2020 01 24.

Artículo en Inglés | MEDLINE | ID: mdl-31799629

9.

Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita.

Kirschner, Martin; Vieri, Margherita; Kricheldorf, Kim; Ferreira, Monica S Ventura; Wlodarski, Marcin W; Schwarz, Michaela; Balabanov, Stefan; Rolles, Benjamin; Isfort, Susanne; Koschmieder, Steffen; Höchsmann, Britta; Panse, Jens; Brümmendorf, Tim H; Beier, Fabian.

Br J Haematol; 193(3): 669-673, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-32744739

10.

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.

Gianferante, Matthew D; Wlodarski, Marcin W; Atsidaftos, Evangelia; Da Costa, Lydie; Delaporta, Polyxeni; Farrar, Jason E; Goldman, Frederick D; Hussain, Maryam; Kattamis, Antonis; Leblanc, Thierry; Lipton, Jeffrey M; Niemeyer, Charlotte M; Pospisilova, Dagmar; Quarello, Paola; Ramenghi, Ugo; Sankaran, Vijay G; Vlachos, Adrianna; Volejnikova, Jana; Alter, Blanche P; Savage, Sharon A; Giri, Neelam.

Haematologica; 106(5): 1303-1310, 2021 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-32241839

11.

Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.

Shimano, Kristin A; Narla, Anupama; Rose, Melissa J; Gloude, Nicholas J; Allen, Steven W; Bergstrom, Katie; Broglie, Larisa; Carella, Beth A; Castillo, Paul; de Jong, Jill L O; Dror, Yigal; Geddis, Amy E; Huang, James N; Lau, Bonnie W; McGuinn, Catherine; Nakano, Taizo A; Overholt, Kathleen; Rothman, Jennifer A; Sharathkumar, Anjali; Shereck, Evan; Vlachos, Adrianna; Olson, Timothy S; Bertuch, Alison A; Wlodarski, Marcin W; Shimamura, Akiko; Boklan, Jessica.

Am J Hematol; 96(11): 1491-1504, 2021 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-34342889

12.

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

Paolini, Nahuel A; Attwood, Martin; Sondalle, Samuel B; Vieira, Carolina Marques Dos Santos; van Adrichem, Anita M; di Summa, Franca M; O'Donohue, Marie-Françoise; Gleizes, Pierre-Emmanuel; Rachuri, Swaksha; Briggs, Joseph W; Fischer, Roman; Ratcliffe, Peter J; Wlodarski, Marcin W; Houtkooper, Riekelt H; von Lindern, Marieke; Kuijpers, Taco W; Dinman, Jonathan D; Baserga, Susan J; Cockman, Matthew E; MacInnes, Alyson W.

Am J Hum Genet; 100(3): 506-522, 2017 Mar 02.

Artículo en Inglés | MEDLINE | ID: mdl-28257692

13.

ERCC6L2 syndrome: attack of the TP53 clones.

Wlodarski, Marcin W.

Blood; 141(23): 2788-2789, 2023 06 08.

Artículo en Inglés | MEDLINE | ID: mdl-37289478

14.

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

Grace, Rachael F; Bianchi, Paola; van Beers, Eduard J; Eber, Stefan W; Glader, Bertil; Yaish, Hassan M; Despotovic, Jenny M; Rothman, Jennifer A; Sharma, Mukta; McNaull, Melissa M; Fermo, Elisa; Lezon-Geyda, Kimberly; Morton, D Holmes; Neufeld, Ellis J; Chonat, Satheesh; Kollmar, Nina; Knoll, Christine M; Kuo, Kevin; Kwiatkowski, Janet L; Pospísilová, Dagmar; Pastore, Yves D; Thompson, Alexis A; Newburger, Peter E; Ravindranath, Yaddanapudi; Wang, Winfred C; Wlodarski, Marcin W; Wang, Heng; Holzhauer, Susanne; Breakey, Vicky R; Kunz, Joachim; Sheth, Sujit; Rose, Melissa J; Bradeen, Heather A; Neu, Nolan; Guo, Dongjing; Al-Sayegh, Hasan; London, Wendy B; Gallagher, Patrick G; Zanella, Alberto; Barcellini, Wilma.

Blood; 131(20): 2183-2192, 2018 05 17.

Artículo en Inglés | MEDLINE | ID: mdl-29549173

15.

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Bianchi, Paola; Fermo, Elisa; Lezon-Geyda, Kimberly; van Beers, Eduard J; Morton, Holmes D; Barcellini, Wilma; Glader, Bertil; Chonat, Satheesh; Ravindranath, Yaddanapudi; Newburger, Peter E; Kollmar, Nina; Despotovic, Jenny M; Verhovsek, Madeleine; Sharma, Mukta; Kwiatkowski, Janet L; Kuo, Kevin H M; Wlodarski, Marcin W; Yaish, Hassan M; Holzhauer, Susanne; Wang, Heng; Kunz, Joachim; Addonizio, Kathryn; Al-Sayegh, Hasan; London, Wendy B; Andres, Oliver; van Wijk, Richard; Gallagher, Patrick G; Grace, Rachael F F.

Am J Hematol; 95(5): 472-482, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32043619

16.

A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.

Farah, Roula A; Kamel, Lojine; Roy, Noemi; Proven, Melanie; Wray, Katherine; Roberts, Irene; Wlodarski, Marcin W.

J Pediatr Hematol Oncol; 42(4): e235-e237, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-30933022

17.

The rise of Apollo, protector of telomeres.

Wlodarski, Marcin W.

Blood; 139(16): 2415-2416, 2022 04 21.

Artículo en Inglés | MEDLINE | ID: mdl-35446379

18.

Development of a centralised triage centre for children with cancer and blood disorders in response to the humanitarian crisis in Ukraine.

Salek, Marta; Mueller, Alexandra; Alanbousi, Inna; Cepowska, Zuzanna; Dutkiewicz, Malgorzata; Earl, Julian; Evseev, Dmitry; Kizyma, Roman; Kliuchkivska, Khrystyna; Kolodrubiec, Julia; Matczak, Katarzyna; Nogovitsyna, Yuliya; Oszer, Aleksandra; Pogorelyy, Mikhail; Raciborska, Anna; Rasul, Suheir; Sokolowski, Igor; Sopilnyak, Andriy; Vinitsky, Anna; Wlodarski, Marcin W; Wobst, Natalia; Yakimkova, Taisiya; Rodriguez-Galindo, Carlos; Wise, Paul H; Mlynarski, Wojciech; Agulnik, Asya.

Lancet Oncol; 24(12): 1315-1318, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-38039989

19.

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W; Vlachos, Adrianna; Lipton, Jeffrey M; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R; Dianzani, Irma.

Hum Mutat; 39(8): 1102-1111, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29766597

20.

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski, Marcin W; Hirabayashi, Shinsuke; Pastor, Victor; Starý, Jan; Hasle, Henrik; Masetti, Riccardo; Dworzak, Michael; Schmugge, Markus; van den Heuvel-Eibrink, Marry; Ussowicz, Marek; De Moerloose, Barbara; Catala, Albert; Smith, Owen P; Sedlacek, Petr; Lankester, Arjan C; Zecca, Marco; Bordon, Victoria; Matthes-Martin, Susanne; Abrahamsson, Jonas; Kühl, Jörn Sven; Sykora, Karl-Walter; Albert, Michael H; Przychodzien, Bartlomiej; Maciejewski, Jaroslaw P; Schwarz, Stephan; Göhring, Gudrun; Schlegelberger, Brigitte; Cseh, Annámaria; Noellke, Peter; Yoshimi, Ayami; Locatelli, Franco; Baumann, Irith; Strahm, Brigitte; Niemeyer, Charlotte M.

Blood; 127(11): 1387-97; quiz 1518, 2016 Mar 17.

Artículo en Inglés | MEDLINE | ID: mdl-26702063

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: