Search Results - "Platt, Orah S."

Hydroxyurea for the Treatment of Sickle Cell Anemia by Platt, Orah S

“…An 18-year-old woman with sickle cell anemia presents with recurrent painful crises, and treatment with hydroxyurea is recommended. Hydroxyurea causes a shift…”
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Association between Microdeletion and Microduplication at 16p11.2 and Autism by Weiss, Lauren A, Shen, Yiping, Korn, Joshua M, Arking, Dan E, Miller, David T, Fossdal, Ragnheidur, Saemundsen, Evald, Stefansson, Hreinn, Stefansson, Kari, Ferreira, Manuel A.R, Green, Todd, Platt, Orah S, Ruderfer, Douglas M, Walsh, Christopher A, Altshuler, David, Chakravarti, Aravinda, Tanzi, Rudolph E, Santangelo, Susan L, Gusella, James F, Sklar, Pamela, Wu, Bai-Lin, Daly, Mark J

“…The causes of autism are largely unknown. This study establishes that aberrant dosage of a large genomic segment is associated with autism spectrum disorder…”
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SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss by Dai, Pu, Li, Qi, Huang, Deliang, Yuan, Yongyi, Kang, Dongyang, Miller, David T., Shao, Hong, Zhu, Qingwen, He, Jia, Yu, Fei, Liu, Xin, Han, Bing, Yuan, Huijun, Platt, Orah S., Han, Dongyi, Wu, Bai-Lin

“…Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas of…”
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Abnormal modulation of cell protective systems in response to ischemic/reperfusion injury is important in the development of mouse sickle cell hepatopathy by SICILIANO, Angela, MALPELI, Giorgio, DE FRANCESCHI, Lucia, PLATT, Orah S, LEBOUEF, Christophe, JANIN, Anne, SCARPA, Aldo, OLIVIERI, Oliviero, AMATO, Eliana, CORROCHER, Roberto, BEUZARD, Yves

“…Sickle cell disease, a genetic red cell disorder inherited in an autosomal recessive manner, occurs throughout the world. Hepatic dysfunction and liver damage…”
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Mortality In Sickle Cell Disease -- Life Expectancy and Risk Factors for Early Death by Platt, Orah S, Brambilla, Donald J, Rosse, Wendell F, Milner, Paul F, Castro, Oswaldo, Steinberg, Martin H, Klug, Panpit P

“…The life expectancy of patients with sickle cell disease has improved considerably since 1960, when Sir John Dacie described sickle cell disease as…”
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Pulmonary hypertension and nitric oxide depletion in sickle cell disease by Bunn, H. Franklin, Nathan, David G., Dover, George J., Hebbel, Robert P., Platt, Orah S., Rosse, Wendell F., Ware, Russell E.

“…During the past decade a large body of experimental and clinical studies has focused on the hypothesis that nitric oxide (NO) depletion by plasma hemoglobin in…”
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Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume by Peters, Luanne L, Zhang, Weidong, Lambert, Amy J, Brugnara, Carlo, Churchill, Gary A, Platt, Orah S

“…A substantial genetic contribution to baseline peripheral blood counts has been established. We performed quantitative trait locus/loci (QTL) analyses to…”
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Quantitative trait loci for baseline erythroid traits by Peters, Luanne L, Lambert, Amy J, Zhang, Weidong, Churchill, Gary A, Brugnara, Carlo, Platt, Orah S

“…A substantial genetic contribution underlies variation in baseline peripheral blood counts. We performed quantitative trait locus/loci (QTL) analyses to…”
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Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort by Bao, Erik L., Lareau, Caleb A., Brugnara, Carlo, Fulcher, Isabel R., Barau, Caroline, Moutereau, Stephane, Habibi, Anoosha, Badaoui, Bouchra, Berkenou, Jugurtha, Bartolucci, Pablo, Galactéros, Frédéric, Platt, Orah S., Mahaney, Michael, Sankaran, Vijay G.

“…Sickle cell disease (SCD) is the most common monogenic disorder in the world. Notably, there is extensive clinical heterogeneity in SCD that cannot be fully…”
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Quantitative trait loci for peripheral blood cell counts: a study in baboons by Bertin, Angéline, Mahaney, Michael C, Cox, Laura A, Rogers, Jeffrey, VandeBerg, John L, Brugnara, Carlo, Platt, Orah S

“…Increasingly, baseline peripheral blood cell counts are implicated as risk factors for common complex diseases. While genetic influences on these hematologic…”
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Preventing Stroke in Sickle Cell Anemia by Platt, Orah S

“…Stroke in sickle cell anemia occurs in about 11 percent of patients under 20 years of age. Dr. Orah Platt writes that it appears that transfusion does not…”
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Prevention and management of stroke in sickle cell anemia by Platt, Orah S

“…As the overall health of patients with sickle cell anemia (SS) improves and diagnostic techniques become more sensitive, physicians are seeing patients with an…”
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Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss by Dai, Pu, Stewart, Andrew K, Chebib, Fouad, Hsu, Ann, Rozenfeld, Julia, Huang, Deliang, Kang, Dongyang, Lip, Va, Fang, Hong, Shao, Hong, Liu, Xin, Yu, Fei, Yuan, Huijun, Kenna, Margaret, Miller, David T, Shen, Yiping, Yang, Weiyan, Zelikovic, Israel, Platt, Orah S, Han, Dongyi, Alper, Seth L, Wu, Bai-Lin

“…1 Department of Otorhinolaryngology Head and Neck Surgery and Genetic Testing Center for Deafness, PLA General Hospital, Beijing, People's Republic of China 2…”
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Protective effects of phosphodiesterase‐4 (PDE‐4) inhibition in the early phase of pulmonary arterial hypertension in transgenic sickle cell mice by De Franceschi, Lucia, Platt, Orah S., Malpeli, Giorgio, Janin, Anne, Scarpa, Aldo, Leboeuf, Christophe, Beuzard, Yves, Payen, Emmanuel, Brugnara, Carlo

“…Pulmonary arterial hypertension (PAH) is one of the leading causes of morbidity and mortality in adult patients with sickle cell disease (SCD). Here, we…”
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The Acute Chest Syndrome of Sickle Cell Disease by Platt, Orah S

“…It has become a cliché to say that sickle cell anemia is the first “molecular disease.” 1 The substitution of valine for glycine in β-globin has been known as…”
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Transposing Sequences between Fetal and Adult Hemoglobins Indicates Which Subunits and Regulatory Molecule Interfaces Are Functionally Related by Chen, Weihua, Dumoulin, Antoine, Li, Xianfeng, Padovan, Julio Cesar, Chait, Brian T, Buonopane, Ralph, Platt, Orah S, Manning, Lois R, Manning, James M

“…To correlate amino acid sequence changes with hemoglobin function we are carrying out a detailed recombinant analysis of the adult hemoglobin/fetal hemoglobin…”
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Age- and gender-dependent obesity in individuals with 16p11.2 deletion by Yu, Yongguo, Zhu, Haitao, Miller, David T., Gusella, James F., Platt, Orah S., Wu, Bai-Lin, Shen, Yiping

“…Recurrent genomic imbalances at 16p11.2 are genetic risk factors of variable penetrance for developmental delay and autism. Recently, 16p11.2…”
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Silent Cerebral Infarcts in Sickle Cell Anemia: A Risk Factor Analysis by Kinney, Thomas R, Sleeper, Lynn A, Wang, Winfred C, Zimmerman, Robert A, Pegelow, Charles H, Ohene-Frempong, Kwaku, Wethers, Doris L, Bello, Jacqueline A, Vichinsky, Elliott P, Moser, Franklin G, Gallagher, Dianne M, DeBaun, Michael R, Platt, Orah S, Miller, Scott T, Cooperative Study of Sickle Cell Disease

“…Background. Silent infarcts have been reported in 17% of young patients with sickle cell disease and are associated with impaired performance on standardized…”
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Genetic influences on peripheral blood cell counts: a study in baboons by Mahaney, Michael C., Brugnara, Carlo, Lease, Loren R., Platt, Orah S.

“…Interperson differences in peripheral blood cell counts in healthy individuals result from genetic and environmental influences. We used multivariate genetic…”
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Pain in Sickle Cell Disease: Rates and Risk Factors by Platt, Orah S, Thorington, Bruce D, Brambilla, Donald J, Milner, Paul F, Rosse, Wendell F, Vichinsky, Elliott, Kinney, Thomas R

“…PERIODIC, self-limited episodes of excruciating musculoskeletal pain punctuate the lives of patients with sickle cell disease. Often referred to as "crises,"…”
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