Search Results - "PATTERSON, MARGIE"

Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada by BASRAN, RAVEEN K., PATTERSON, MARGIE, WALKER, LYNDA, NAKAMURA, LISA M., ENG, BARRY, CHUI, DAVID H.K., WAYE, JOHN S.

“…: In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the…”
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High Hb A 2 β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia by Patterson, Margie, Walker, Lynda, Eng, Barry, Waye, John S.

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Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening by Eng, Barry, Patterson, Margie, Walker, Lynda, Hoppe, Carolyn, Azimi, Mahin, Lee, Helen, Giordano, Piero C., Waye, John S.

“…We report three new α-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide…”
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High Hb A2 β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia by Patterson, Margie, Walker, Lynda, Eng, Barry, Waye, John S.

“…We describe a case of Hb S/β-thalassemia (thal) involving a 468 bp deletion that removes the β-globin gene promoter but leaves the coding regions intact. This…”
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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp] by Walker, Lynda, Patterson, Margie, Eng, Barry, McFarlane, Andrew, Waye, John S.

“…We describe a case of β-thalassemia (thal) trait in which the patient also carries a novel δ chain variant due to a missense mutation at amino acid codon 13…”
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Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease by Eng, Barry, Walsh, Robert, Walker, Lynda, Patterson, Margie, Waye, John S.

“…A Chinese patient with Hb H (β4) disease was found to be a compound heterozygote for a 2.4 kb α+-thalassemia (thal) deletion and the common Southeast Asian…”
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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A 2 -MUMC [δ13(A10)Ala → Asp] by Walker, Lynda, Patterson, Margie, Eng, Barry, McFarlane, Andrew, Waye, John S.

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Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)] by Patterson, Margie, Walker, Lynda, Chui, David H. K., Cohen, Alan R., Waye, John S.

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Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation by Walker, Lynda, McFarlane, Andrew, Patterson, Margie, Eng, Barry, Waye, John S.

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Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu] by Patterson, Margie, Walker, Lynda, Chui, David H. K., Lafferty, John D., MacFarlane, Andrew, Waye, John S.

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NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)] by Waye, John S., Eng, Barry, Patterson, Margie, Reis, Marciano D., Macdonald, Denis, Chui, David H. K.

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