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Journal Articles

Limits of Phenotype Analyses in the Diagnosis of HbS Heterozygosity. Example of a Hb S Carrier Phenocopy Due to Hb Arya (Alpha 1: codon 47 Asp>Asn) and a Gene Conversion

Serge Pissard, MD PhD, Adrien Pecriaux, Catherine Paillard, MD PhD, Anne Galoisy, PharmD, Jean Riou, Nathalie Le Metayer, Henri Wajcman, MD PhD
Journal: Blood
Blood (2016) 128 (22): 4850.
https://doi.org/10.1182/blood.V128.22.4850.4850
Published: 2016
Journal Articles

Molecular Basis of Von Willebrand Disease in Patients from India

Sumitha Elayaperumal, M.Sc, Eunice Sindhuvi Edison, PhD, Sankari Devi Govindanattar, B.Sc, Surendar Singh, B.Sc, Aby Abraham, MD DM, Biju George, DM, Auro Viswabandya, MD DM, Sukesh Nair, MD FRCPA, Alok Srivastava, MD FRACP
Journal: Blood
Blood (2015) 126 (23): 1102.
https://doi.org/10.1182/blood.V126.23.1102.1102
Published: 2015
Journal Articles

Allele-Specific Crispr Targeting Reveals Epigenetic and Phenotypic Effects of a MMSET Gain of Function Mutation Found in Relapsed Acute Lymphoblastic Leukemia

Jon Oyer, PhD, Christine Will, M.S., Xiaoxiao Huang, Teresa Ezponda, PhD, Relja Popovic, PhD, Yupeng Zheng, PhD, Neil L Kelleher, PhD, Jonathan D. Licht, MD
Journal: Blood
Blood (2015) 126 (23): 437.
https://doi.org/10.1182/blood.V126.23.437.437
Published: 2015
Journal Articles

Two routes to leukemic transformation after a JAK2 mutation–positive myeloproliferative neoplasm

Philip A. Beer, François Delhommeau, Jean-Pierre LeCouédic, Mark A. Dawson, Edwin Chen, David Bareford, Rajko Kušec, Mary Frances McMullin, Claire N. Harrison, Alessandro M. Vannucchi, William Vainchenker, Anthony R. Green
Journal: Blood
Blood (2010) 115 (14): 2891–2900.
https://doi.org/10.1182/blood-2009-08-236596
Published: 2010
Journal Articles

Assessment of SBDS Expression Patterns in Human Marrow Hematopoietic and Stromal Cells by Immunohistochemistry and Its Use as a Diagnostic Screen for Schwachman-Diamond Syndrome

Trisha Wong, MD, Monica Calicchio, Mark D. Fleming, MD, DPhil, Akiko Shimamura, MD, PhD, Marian Hester Harris, MD, PhD
Journal: Blood
Blood (2008) 112 (11): 41.
https://doi.org/10.1182/blood.V112.11.41.41
Published: 2008
Journal Articles

Gene Conversion Is a Late Event in Evolution of High Risk AML.

Soheil Meshinchi, MD, PhD, Jessica A. Pollard, MD, Karen D. Tsuchiya, MD, Derek A. Stirewalt, MD, Irwin D. Bernstein, MD, Jerald Radich, MD
Journal: Blood
Blood (2007) 110 (11): 207.
https://doi.org/10.1182/blood.V110.11.207.207
Published: 2007
Journal Articles

Rhesus Box Variation: Multiple RHD Deletion Events and Implications for Testing RHD Heterozygosity.

Willy A. Flegel, MD, Joann M. Moulds, PhD, Franz F. Wagner, MD
Journal: Blood
Blood (2004) 104 (11): 2705.
https://doi.org/10.1182/blood.V104.11.2705.2705
Published: 2004
Journal Articles

Gene Conversion of Sialic Acid Binding Domains in CD33-Related Siglecs by Adjacent Pseudogenes: A Novel Mechanism To Change Sialic Acid Binding Specificity.

Toshiyuki Hayakawa, Takashi Angata, Elliott H. Margulies, Tarjei Mikkelsen, Eric D. Green, Ajit Varki
Journal: Blood
Blood (2004) 104 (11): 1471.
https://doi.org/10.1182/blood.V104.11.1471.1471
Published: 2004
Journal Articles

Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development

Gurcharan K. Surdhar, Mohammad S. Enayat, Sarah Lawson, Michael D. Williams, Frank G. H. Hill
Journal: Blood
Blood (2001) 98 (1): 248–250.
https://doi.org/10.1182/blood.V98.1.248
Published: 2001