Search Results - "Mendelsohn, J"

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions by Schaefer, G. Bradley, Mendelsohn, Nancy J.

“…The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic…”
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The epidermal growth factor receptor as a target for cancer therapy by Mendelsohn, J

“…Epidermal growth factor (EGF) receptors are expressed at high levels in about one third of epithelial cancers, and autocrine activation of EGF receptors…”
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Epidermal Growth Factor Receptor Targeting in Cancer by Mendelsohn, John, Baselga, Jose

“…The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family that is abnormally activated in many epithelial tumors. Several…”
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WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta by Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.

“…Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture…”
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16 Personalised Cancer Treatment by Mendelsohn, J

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Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol by Meric-Bernstam, F., Brusco, L., Daniels, M., Wathoo, C., Bailey, A.M., Strong, L., Shaw, K., Lu, K., Qi, Y., Zhao, H., Lara-Guerra, H., Litton, J., Arun, B., Eterovic, A.K., Aytac, U., Routbort, M., Subbiah, V., Janku, F., Davies, M.A., Kopetz, S., Mendelsohn, J., Mills, G.B., Chen, K.

“…Next-generation sequencing in cancer research may reveal germline variants of clinical significance. We report patient preferences for return of results and…”
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Challenges in initiating and conducting personalized cancer therapy trials: perspectives from WINTHER, a Worldwide Innovative Network (WIN) Consortium trial by Rodon, J., Soria, J.C., Berger, R., Batist, G., Tsimberidou, A., Bresson, C., Lee, J.J., Rubin, E., Onn, A., Schilsky, R.L., Miller, W.H., Eggermont, A.M., Mendelsohn, J., Lazar, V., Kurzrock, R.

“…Advances in ‘omics’ technology and targeted therapeutic molecules are together driving the incorporation of molecular-based diagnostics into the care of…”
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Hunting Down the Chimera of Multiple Disciplinarity in Conservation Science by POOLEY, SIMON P, MENDELSOHN, J. ANDREW, MILNER‐GULLAND, E. J

“…The consensus is that both ecological and social factors are essential dimensions of conservation research and practice. However, much of the literature on…”
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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders by Schaefer, G. Bradley, Mendelsohn, Nancy J.

“…Over the past decade, the reported incidence of autism spectrum disorders has continued to increase. Coincident with this, the number of referrals to clinical…”
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Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease by Kishnani, Priya S, Rosenberg, Amy S, Mendelsohn, Nancy J, Messinger, Yoav H

“…To the Editor: Infantile Pompe's disease is due to a deficiency of lysosomal acid alpha glucosidase (GAA). In patients in whom GAA is not produced, a status…”
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Epidermal growth factor receptor inhibition by a monoclonal antibody as anticancer therapy by Mendelsohn, J

“…Monoclonal antibody (mAb) 225 against the human epidermal growth factor receptor blocks activation of receptor tyrosine kinase. This retards or arrests cell…”
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Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry by Muenzer, Joseph, Jones, Simon A, Tylki-Szymańska, Anna, Harmatz, Paul, Mendelsohn, Nancy J, Guffon, Nathalie, Giugliani, Roberto, Burton, Barbara K, Scarpa, Maurizio, Beck, Michael, Jangelind, Yvonne, Hernberg-Stahl, Elizabeth, Larsen, Maria Paabøl, Pulles, Tom, Whiteman, David A H

“…Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by…”
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Common Knowledge: Bodies, Evidence, and Expertise in Early Modern Germany by Mendelsohn, J. Andrew, Kinzelbach, Annemarie

“…Over the past twenty-five years, history of science has expanded into history of knowledge. Plurality has been the main message. Commonality, by contrast, is…”
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Fabrication of Microporous Thin Films from Polyelectrolyte Multilayers by Mendelsohn, J. D, Barrett, C. J, Chan, V. V, Pal, A. J, Mayes, A. M, Rubner, M. F

“…A simple process has been developed to create large area, highly uniform microporous thin films. Multilayers of weak polyelectrolytes were assembled onto…”
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Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) by Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella

“…Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data…”
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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing by Yu, Hui, PhD, Zhang, Victor Wei, MD, PhD, Stray-Pedersen, Asbjørg, MD, PhD, Hanson, Imelda Celine, MD, Forbes, Lisa R., MD, de la Morena, M. Teresa, MD, Chinn, Ivan K., MD, Gorman, Elizabeth, PhD, Mendelsohn, Nancy J., MD, Pozos, Tamara, MD, PhD, Wiszniewski, Wojciech, MD, PhD, Nicholas, Sarah K., MD, Yates, Anne B., MD, Moore, Lindsey E., DO, Berge, Knut Erik, MD, PhD, Sorte, Hanne, MS, Bayer, Diana K., DO, ALZahrani, Daifulah, MD, Geha, Raif S., MD, Feng, Yanming, PhD, Wang, Guoli, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (hon), Wang, Jing, MD, Wong, Lee-Jun, PhD

“…Background Primary immunodeficiency diseases (PIDDs) are inherited disorders of the immune system. The most severe form, severe combined immunodeficiency…”
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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders by Schaefer, G. Bradley, Mendelsohn, Nancy J.

“…The autism spectrum disorders are a collection of conditions, which have, in common, impaired socialization and communication in association with stereotypic…”
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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey by Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

“…To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these…”
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Phase I Studies of Anti–Epidermal Growth Factor Receptor Chimeric Antibody C225 Alone and in Combination With Cisplatin by BASELGA, J, PFISTER, D, FALCEY, J, ANDERSON, V, WAKSAL, H, MENDELSOHN, J, COOPER, M. R, COHEN, R, BURTNESS, B, BOS, M, D'ANDREA, G, SEIDMAN, A, NORTON, L, GUNNETT, K

“…The epidermal growth factor (EGF) receptor is frequently overexpressed in epithelial tumors. C225 is a human-to-murine chimeric monoclonal antibody that binds…”
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Genetic Testing for Dilated Cardiomyopathy in Clinical Practice by Lakdawala, Neal K., MD, Funke, Birgit H., PhD, Baxter, Samantha, MS, CGC, Cirino, Allison L., MS, CGC, Roberts, Amy E., MD, Judge, Daniel P., MD, Johnson, Nicole, MS, CGC, Mendelsohn, Nancy J., MD, Morel, Chantal, MD, Care, Melanie, MS, CGC, Chung, Wendy K., MD, Jones, Carolyn, MD, PhD, Psychogios, Apostolos, MD, Duffy, Elizabeth, Rehm, Heidi L., PhD, White, Emily, MS, Seidman, J.G., PhD, Seidman, Christine E., MD, Ho, Carolyn Y., MD

“…Abstract Background Familial involvement is common in dilated cardiomyopathy (DCM) and >40 genes have been implicated in causing disease. However, the role of…”
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