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Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa, Lydie; O'Donohue, Marie-Françoise; van Dooijeweert, Birgit; Albrecht, Katarzyna; Unal, Sule; Ramenghi, Ugo; Leblanc, Thierry; Dianzani, Irma; Tamary, Hannah; Bartels, Marije; Gleizes, Pierre-Emmanuel; Wlodarski, Marcin; MacInnes, Alyson W.
Afiliação
  • Da Costa L; University Paris VII Denis DIDEROT, Faculté de Médecine Xavier Bichat, F-75019 Paris, France; Laboratory of Excellence for Red Cell, LABEX GR-Ex, F-75015 Paris, France; Inserm Unit 1134, INTS, F-75015 Paris, France; Service d'onco-hématologie pédiatrique, Robert Debré Hospital, F-75019 Paris, France
  • O'Donohue MF; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.
  • van Dooijeweert B; Department of Pediatric Hematology and Stem Cell Transplantation, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
  • Albrecht K; Medical University of Warsaw, Department of Pediatric Hematology and Oncology, Ul. Zwirki I Wigury 61, 02-091 Warsaw, Poland.
  • Unal S; Hacettepe University, Center of Research, Diagnosis and Treatment for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Ankara 06100, Turkey.
  • Ramenghi U; Department of Pediatric and Public Health Sciences, University of Torino, 10126 Torino, Italy.
  • Leblanc T; Service d'onco-hématologie pédiatrique, Robert Debré Hospital, F-75019 Paris, France.
  • Dianzani I; Department of Health Sciences, Università Del Piemonte Orientale, 28100 Novara, Italy.
  • Tamary H; Pediatric Hematology/Oncology Department, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, 84101 Beer Sheva, Israel.
  • Bartels M; Department of Pediatric Hematology and Stem Cell Transplantation, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
  • Gleizes PE; Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France.
  • Wlodarski M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.
  • MacInnes AW; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands. Electronic address: a.w.macinnes@amc.nl.
Eur J Med Genet ; 61(11): 664-673, 2018 Nov.
Article em En | MEDLINE | ID: mdl-29081386
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Anemia de Diamond-Blackfan Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Anemia de Diamond-Blackfan Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Holanda