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Chromothriptic cure of WHIM syndrome.
McDermott, David H; Gao, Ji-Liang; Liu, Qian; Siwicki, Marie; Martens, Craig; Jacobs, Paejonette; Velez, Daniel; Yim, Erin; Bryke, Christine R; Hsu, Nancy; Dai, Zunyan; Marquesen, Martha M; Stregevsky, Elina; Kwatemaa, Nana; Theobald, Narda; Long Priel, Debra A; Pittaluga, Stefania; Raffeld, Mark A; Calvo, Katherine R; Maric, Irina; Desmond, Ronan; Holmes, Kevin L; Kuhns, Douglas B; Balabanian, Karl; Bachelerie, Françoise; Porcella, Stephen F; Malech, Harry L; Murphy, Philip M.
  • McDermott DH; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Gao JL; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Liu Q; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Siwicki M; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Martens C; Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT 59840, USA.
  • Jacobs P; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Velez D; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Yim E; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Bryke CR; Quest Diagnostics, Chantilly, VA 20151, USA; Department of Cytogenetics, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
  • Hsu N; Quest Diagnostics, Chantilly, VA 20151, USA; Department of Cytogenetics, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
  • Dai Z; Quest Diagnostics, Chantilly, VA 20151, USA; Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30030, USA.
  • Marquesen MM; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Stregevsky E; Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Kwatemaa N; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Theobald N; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Long Priel DA; Clinical Services Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA.
  • Pittaluga S; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Raffeld MA; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Calvo KR; Division of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Maric I; Division of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Desmond R; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Department of Haematology, Tallaght Hospital, Dublin 24, Ireland.
  • Holmes KL; Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Kuhns DB; Clinical Services Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA.
  • Balabanian K; INSERM UMR- S996, Laboratory of Excellence in Research on Medication and Innovative Therapeutics, Université Paris-Sud, 92140 Clamart, France.
  • Bachelerie F; INSERM UMR- S996, Laboratory of Excellence in Research on Medication and Innovative Therapeutics, Université Paris-Sud, 92140 Clamart, France.
  • Porcella SF; Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT 59840, USA.
  • Malech HL; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Murphy PM; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: pmm@nih.gov.
Cell ; 160(4): 686-699, 2015 Feb 12.
Article en En | MEDLINE | ID: mdl-25662009
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Verrugas / Inestabilidad Cromosómica / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Animals / Humans / Male / Middle aged Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Verrugas / Inestabilidad Cromosómica / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Animals / Humans / Male / Middle aged Idioma: En Año: 2015 Tipo del documento: Article