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Surgical treatment of metastatic disease of the femur.

• Kenneth C Swanson, Douglas Pritchard, Franklin H. Sim
• The Journal of the American Academy of…
• 2000

Nearly every malignant neoplasm has been described as having the capability to metastasize to bone. Of the estimated 1.2 million new cases of cancer diagnosed annually, more than 50% will eventually… (More)

Hb Manukau [β67(E11)Val → Gly; HBB: c.203T>G]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia.

• Mudra Kohli Kumar, Courtney Judd, James D. Hoyer, Kenneth C Swanson, Linda R. Nelson, Jennifer L Oliveira
• Hemoglobin
• 2014

The increasing availability of DNA sequencing of globin genes has improved our ability to detect conditions that were presumed to be extremely rare. These conditions may remain undiagnosed due to… (More)

Homozygous hemoglobin Abruzzo in a North American child.

• Lakshmi Venkateswaran, Kenneth C Swanson, James D. Hoyer
• Journal of pediatric hematology/oncology
• 2005

Hemoglobin Abruzzo is a stable hemoglobin variant with increased oxygen affinity, clinically causing compensatory erythrocytosis in affected patients. Heterozygosity of this variant with or without… (More)

Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: a new high oxygen affinity variant.

• Jennifer L Oliveira, Kenneth C Swanson, Patricia C Wendt, Thomas D Caughey, James D. Hoyer
• Hemoglobin
• 2010

A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1)β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography… (More)

Hb Memphis [HBA2: c.70G>C (or HBA1)] in a Turkish child: a case report and comparison to Hb Q-Thailand (HBA1: c.223G>C).

• Lauren Lubrano, Michael J Donnelly, +4 authors Jennifer L Oliveira
• Hemoglobin
• 2014

Hb Memphis [α23(B4)Glu→Gln; HBA2: c.70G > C (or HBA1)] is a stable hemoglobin (Hb) variant caused by a substitution of glutamine for glutamic acid at residue 23 of the α2- or α1-globin chain.… (More)

Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience

• Jennifer L Oliveira, Lea M Coon, +10 authors James D. Hoyer
• American journal of hematology
• 2018

Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD,… (More)

β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.

• Michelle L. Kluge, James D. Hoyer, Kenneth C Swanson, Jennifer L Oliveira
• Hemoglobin
• 2014

A novel β(0)-thalassemia (β-thal) frameshift mutation, HBB: c.209delG; p.Gly70Valfs*20, is described in a 21-year-old African American female with β-thalassemia major (β-TM) due to compound… (More)

Hb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G]: a new low oxygen affinity β chain variant.

• Rachel M Taliercio, Rendell W. Ashton, +4 authors Jennifer L Oliveira
• Hemoglobin
• 2013

A previously unreported β chain hemoglobin (Hb) variant, Hb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G], was discovered in a woman who presented with hypoxia and mild anemia. Her young… (More)

Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.

• Michael W Kent, Jennifer L Oliveira, +8 authors Christopher C. Silliman
• Hemoglobin
• 2014

Hyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β… (More)

A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and…

• Anderson B Collier, Lea M Coon, +4 authors Jennifer L Oliveira
• Hemoglobin
• 2016

Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episodes of anemia from common stressors such as viral infections. These attributes frequently cause increased… (More)

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