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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Venugopal, Parvathy; Arts, Peer; Fox, Lucy C; Simons, Annet; Hiwase, Devendra K; Bardy, Peter G; Swift, Annette; Ross, David M; van Vulpen, Lize F D; Buijs, Arjan; Bolton, Kelly L; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S B; Bournazos, Adam M; Cooper, Sandra T; Ha, Thuong Thi; Jackson, Matilda R; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P; Poplawski, Nicola K; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L; Hahn, Christopher N.
Afiliação
  • Venugopal P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Arts P; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Fox LC; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
  • Simons A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Hiwase DK; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Bardy PG; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
  • Swift A; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
  • Ross DM; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.
  • van Vulpen LFD; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia.
  • Buijs A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bolton KL; Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Getta B; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Furlong E; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
  • Carter T; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.
  • Krapels I; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
  • Hoeks M; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
  • Al Kindy A; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia.
  • Al Kindy F; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia.
  • de Munnik S; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Evans P; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
  • Frank MSB; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia.
  • Bournazos AM; Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia.
  • Cooper ST; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Ha TT; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • Jackson MR; Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
  • Arriola-Martinez L; Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia.
  • Phillips K; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia.
  • Brennan Y; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia.
  • Bakshi M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Ambler K; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gao S; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
  • Kassahn KS; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
  • Kenyon R; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hung K; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Babic M; Children's Health Ireland at Crumlin, Dublin, Ireland.
  • McGovern A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Rawlings L; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Vakulin C; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Dejong L; The Children's Medical Research Institute, Westmead, NSW, Australia.
  • Fathi R; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • McRae S; The Children's Medical Research Institute, Westmead, NSW, Australia.
  • Myles N; School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia.
  • Ladon D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Jongmans M; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Kuiper RP; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Poplawski NK; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Barbaro P; Australian Genomics, Parkville, VIC, Australia.
  • Blombery P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
  • Brown AL; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
  • Hahn CN; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Blood Adv ; 8(13): 3437-3443, 2024 Jul 09.
Article em En | MEDLINE | ID: mdl-38662475
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Hematopoiese Clonal Idioma: En Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Hematopoiese Clonal Idioma: En Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália