Search Results - "Weiss, E R"

Prediction uncertainty estimates elucidate the limitation of current NSCLC subtype classification in representing mutational heterogeneity by Puiu, Andrei, Gómez Tapia, Carlos, Weiss, Maximilian E. R., Singh, Vivek, Kamen, Ali, Siebert, Matthias

“…The heterogeneous pathogenesis and treatment response of non-small cell lung cancer (NSCLC) has led clinical treatment decisions to be guided by NSCLC…”
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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders by Trinh, Joanne, Kandaswamy, Krishna Kumar, Werber, Martin, Weiss, Maximilian E R, Oprea, Gabriela, Kishore, Shivendra, Lohmann, Katja, Rolfs, Arndt

“…Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Exome sequencing was performed on 4351…”
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Non-fatal suicidal behaviour, depression and poverty among young men living in low-resource communities in South Africa by Bantjes, J, Tomlinson, M, Weiss, R E, Yen, P K, Goldstone, D, Stewart, J, Qondela, T, Rabie, S, Rotheram-Borus, M-J

“…Suicide is a serious public health problem in low- and middle-income countries. Understanding the context- and gender-specific risk factors for non-fatal…”
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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report by Watanabe, Y, Sharwood, E, Goodwin, B, Creech, M K, Hassan, H Y, Netea, M G, Jaeger, M, Dumitrescu, A, Refetoff, S, Huynh, T, Weiss, R E

“…Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic…”
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Bayesian selection of continuous-time Markov chain evolutionary models by Suchard, M A, Weiss, R E, Sinsheimer, J S

“…We develop a reversible jump Markov chain Monte Carlo approach to estimating the posterior distribution of phylogenies based on aligned DNA/RNA sequences under…”
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Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone by Weiss, Roy E., Xu, Jianming, Ning, Guang, Pohlenz, Joachim, O'Malley, Bert W., Refetoff, Samuel

“…Steroid receptor co‐activator 1 (SRC‐1) is a transcription co‐factor that enhances the hormone‐dependent action, mediated by the thyroid hormone (TH) receptor…”
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Anal human papillomavirus infection in a street-based sample of drug using HIV-positive men by Cranston, R D, Murphy, R, Weiss, R E, Da Costa, M, Palefsky, J, Shoptaw, S, Gorbach, P M

“…HIV facilitates an increase in human papillomavirus (HPV)-associated conditions. HIV-positive men living in a substance use context in Los Angeles, USA, were…”
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Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor α Locus by Gauthier, Karine, Plateroti, Michelina, Harvey, Clare B., Williams, Graham R., Weiss, Roy E., Refetoff, Samuel, Willott, James F., Sundin, Victoria, Roux, Jean-Paul, Malaval, Luc, Hara, Masahiro, Samarut, Jacques, Chassande, Olivier

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Treatment of resistance to thyroid hormone--primum non nocere by Weiss, R E, Refetoff, S

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Ureteroenteric anastomosis in continent urinary diversion: long-term results and complications of direct versus nonrefluxing techniques by Pantuck, A J, Han, K R, Perrotti, M, Weiss, R E, Cummings, K B

“…Controversy exists over the importance of antireflux mechanisms in large volume, low pressure intestinal bladder substitutions. Despite the theoretical…”
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Species-Specific Differences in Expression of G-Protein-Coupled Receptor Kinase (GRK) 7 and GRK1 in Mammalian Cone Photoreceptor Cells: Implications for Cone Cell Phototransduction by Weiss, Ellen R, Ducceschi, Melissa H, Horner, Thierry J, Li, Aimin, Craft, Cheryl M, Osawa, Shoji

“…Desensitization plays an important role in the rapid termination of G-protein signaling pathways. This process, which involves phosphorylation by a…”
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Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective cofactor by WEISS, R. E, HAYASHI, Y, NAGAYA, T, PETTY, K. J, MURATA, Y, TUNCA, H, SEO, H, REFETOFF, S

“…Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. To date, all individuals expressing the RTH…”
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Virtual reality-based training for the diagnosis of prostate cancer by Burdea, G., Patounakis, G., Popescu, V., Weiss, R.E.

“…Prostate malignancies are the second leading cause of cancer deaths among men. The most common method of detecting this disease is digital rectal examination…”
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Visualizing and quantifying Pseudomonas aeruginosa infection in the hindbrain ventricle of zebrafish using confocal laser scanning microscopy by Rocker, Adam J., Weiss, Alexander R.E., Lam, Joseph S., Van Raay, Terence J., Khursigara, Cezar M.

“…Pseudomonas aeruginosa colonizes surfaces using a stepwise process that involves several phases, including attachment, production of exopolysaccharides,…”
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Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes by Weiss, RE, Chassande, O, Koo, EK, Macchia, PE, Cua, K, Samarut, J, Refetoff, S, Refetoff, S

“…The maintenance of thyroid hormone (TH) homeostasis is dependent on the synthesis and secretion of TH regulated by TSH. This is achieved, in turn, by the…”
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site by Pohlenz, J, Rosenthal, I M, Weiss, R E, Jhiang, S M, Burant, C, Refetoff, S

“…A 12-yr-old hypothyroid girl was diagnosed at birth as athyreotic because her thyroid gland could not be visualized by isotope scanning. Goiter development due…”
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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters by POHLENZ, J, DUPREZ, L, WEISS, R. E, VASSART, G, REFETOFF, S, COSTAGLIOLA, S

“…Molecular cloning of the sodium/iodide symporter (NIS) allowed identification of NIS gene mutations in patients with iodide trapping defect. Whereas various…”
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Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone by Weiss, R E, Refetoff, S

“…Thyroid hormone deprivation results in deleterious effects on bone growth. The delayed bone development is mediated by a direct effect of thyroid hormone on…”
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Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family by Aksoy, D Y, Gurlek, A, Ringkananont, U, Weiss, R E, Refetoff, S

“…The syndrome of resistance to thyroid hormone (RTH) is characterized by impaired tissue responses to thyroid hormone. Hashimoto's thyroiditis is the most…”
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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene : analysis of 15 families by WEISS, R. E, WEINBERG, M, REFETOFF, S

“…Generalized resistance to thyroid hormone (GRTH) is a syndrome of variable reduction of tissue responsiveness to thyroid hormone. 28 different point mutations…”
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