Search Results - "Basran, Raveen K"

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome by Cytrynbaum, Cheryl, Chong, Karen, Hannig, Vickie, Choufani, Sanaa, Shuman, Cheryl, Steele, Leslie, Morgan, Thomas, Scherer, Stephen W., Stavropoulos, Dimitri J., Basran, Raveen K., Weksberg, Rosanna

“…Russell–Silver syndrome is a heterogeneous disorder characterized by intrauterine growth retardation, postnatal growth deficiency, characteristic facial…”
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A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F by Chen, Zhiyi, Luo, Hong-Yuan, Basran, Raveen K., Hsu, Tien-Huei, Mang, Daniel W. H., Nuntakarn, Lalana, Rosenfield, Cathy G., Patrinos, George P., Hardison, Ross C., Steinberg, Martin H., Chui, David H. K.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome by Jamal, Seema M., Basran, Raveen K., Newton, Stephanie, Wang, Zhenyuan, Milunsky, Jeff M.

“…Epilepsy and Mental Retardation Limited to Females (EFMR) [OMIM 300088] was first described in 1971 [Juberg and Hellman, 1971] in 15 related females with early…”
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Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism by Pilozzi‐Edmonds, Laura, Maher, Thomas A., Basran, Raveen K., Milunsky, Aubrey, Al‐Thihli, Khalid, Braverman, Nancy E., Alfares, Ahmed

“…Aarskog–Scott syndrome is a rare X‐linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott…”
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β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion by Basran, Raveen K., Reiss, Ulrike M., Luo, Hong-yuan, Ware, Russell E., Chui, David H.K.

“…An 8‐year‐old African‐American boy had a clinical history consistent with mild β‐thalassemia intermedia with moderate anemia, microcytosis, reticulocytosis,…”
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THE Hb S β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele by Schmugge, Markus, Waye, John S., Basran, Raveen K., Zurbriggen, Karin, Frischknecht, Hannes

“…We report a family in which two siblings are compound heterozygotes for Hb S [β6(A3)Glu→Val] and a rare β-globin mutation [IVS-I (−2) (A>C)]. Both patients had…”
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Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion by Andersson, B. Anders R., Wering, Mikaela E. L., Luo, Hong‐Yuan, Basran, Raveen K., Steinberg, Martin H., Smith, Hedy P., Chui, David H. K.

“…A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested…”
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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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Two New α-Thalassemia Frameshift Mutations by Luo, Hong-Yuang, Adewoye, Adeboye H., Pilichowska, Monika, Li, Michael Yunlong, Basran, Raveen K., Steinberg, Martin H., Chui, David H.K.

“…α-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift α-thal mutations:…”
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b-thalassemia intermedia due to compound heterozygosity for two b-globin gene promoter mutations, including a novel TATA box deletion by Basran, Raveen K, Reiss, Ulrike M, Luo, Hong-yuan, Ware, Russell E, Chui, David H K

“…An 8-year-old African-American boy had a clinical history consistent with mild -thalassemia intermedia with moderate anemia, microcytosis, reticulocytosis, and…”
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CASE REPORT: Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta -globin gene deletion by Andersson, BAnders R, Wering, Mikaela EL, Luo, Hong-Yuan, Basran, Raveen K, Steinberg, Martin H, Smith, Hedy P, Chui, David HK

“…A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested…”
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Valproic acid and augmentation of fetal hemoglobin in individuals with and without sickle cell disease by Selby, R, Nisbet-Brown, E, Basran, R K, Chang, L, Olivieri, N F

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Valproic Acid and Augmentation of Fetal Hemoglobin in Individuals With and Without Sickle Cell Disease by Selby, Rita, Nisbet-Brown, Eric, Basran, Raveen K., Chang, Lebe, Olivieri, Nancy F.

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Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism by Pilozzi-Edmonds, Laura, Maher, Thomas A., Basran, Raveen K., Milunsky, Aubrey, Al-Thihli, Khalid, Braverman, Nancy E., Alfares, Ahmed

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Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb β-globin gene deletion by Andersson, B. Anders R., Wering, Mikaela E. L., Luo, Hong-Yuan, Basran, Raveen K., Steinberg, Martin H., Smith, Hedy P., Chui, David H. K.

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