Search Results - "Holm, I A"

Parents' preferences for return of results in pediatric genomic research by Ziniel, S I, Savage, S K, Huntington, N, Amatruda, J, Green, R C, Weitzman, E R, Taylor, P, Holm, I A

“…The aim of this study was to ascertain parental preferences for the return of genetic research results on themselves and their children and their choices for…”
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Peripheral blood gene expression signature differentiates children with autism from unaffected siblings by Kong, S. W., Shimizu-Motohashi, Y., Campbell, M. G., Lee, I. H., Collins, C. D., Brewster, S. J., Holm, I. A., Rappaport, L., Kohane, I. S., Kunkel, L. M.

“…Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to…”
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Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems by Rasmussen-Torvik, L J, Stallings, S C, Gordon, A S, Almoguera, B, Basford, M A, Bielinski, S J, Brautbar, A, Brilliant, M H, Carrell, D S, Connolly, J J, Crosslin, D R, Doheny, K F, Gallego, C J, Gottesman, O, Kim, D S, Leppig, K A, Li, R, Lin, S, Manzi, S, Mejia, A R, Pacheco, J A, Pan, V, Pathak, J, Perry, C L, Peterson, J F, Prows, C A, Ralston, J, Rasmussen, L V, Ritchie, M D, Sadhasivam, S, Scott, S A, Smith, M, Vega, A, Vinks, A A, Volpi, S, Wolf, W A, Bottinger, E, Chisholm, R L, Chute, C G, Haines, J L, Harley, J B, Keating, B, Holm, I A, Kullo, I J, Jarvik, G P, Larson, E B, Manolio, T, McCarty, C A, Nickerson, D A, Scherer, S E, Williams, M S, Roden, D M, Denny, J C

“…We describe here the design and initial implementation of the eMERGE‐PGx project. eMERGE‐PGx, a partnership of the Electronic Medical Records and Genomics…”
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Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network by Bush, WS, Crosslin, DR, Owusu-Obeng, A, Wallace, J, Almoguera, B, Basford, MA, Bielinski, SJ, Carrell, DS, Connolly, JJ, Crawford, D, Doheny, KF, Gallego, CJ, Gordon, AS, Keating, B, Kirby, J, Kitchner, T, Manzi, S, Mejia, AR, Pan, V, Perry, CL, Peterson, JF, Prows, CA, Ralston, J, Scott, SA, Scrol, A, Smith, M, Stallings, SC, Veldhuizen, T, Wolf, W, Volpi, S, Wiley, K, Li, R, Manolio, T, Bottinger, E, Brilliant, MH, Carey, D, Chisholm, RL, Chute, CG, Haines, JL, Hakonarson, H, Harley, JB, Holm, IA, Kullo, IJ, Jarvik, GP, Larson, EB, McCarty, CA, Williams, MS, Denny, JC, Rasmussen-Torvik, LJ, Roden, DM, Ritchie, MD

“…Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants affect drug response. The electronic Medical…”
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Considerations for study design in the DAHANCA 35 trial of protons versus photons for head and neck cancer by Friborg, J., Jensen, K., Eriksen, J.G., Samsøe, E., Maare, C., Farhadi, M., Sibolt, P., Nielsen, M., Andersen, M., Holm, A.I.S., Skyt, P., Smulders, B., Johansen, J., Overgaard, J., Grau, C., Hansen, C.R.

“…•There is limited clinical data on proton radiotherapy in head and neck cancer patients.•There is no consensus on trial design or relevant endpoints.•The…”
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Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets by HOLM, Ingrid A, NELSON, Anne E, ROBINSON, Bruce G, MASON, Rebecca S, MARSH, Deborah J, COWELL, Christopher T, CARPENTER, Thomas O

“…PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients,…”
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Dose and robustness comparison of nominal, daily and accumulated doses for photon and proton treatment of sinonasal cancer by Argota-Perez, R., Sharma, M.B., Elstrøm, U.V., Møller, D.S., Grau, C., Jensen, K., Holm, A.I.S., Korreman, S.S.

“…•Photon and proton treatment of sinonasal cancer patient have different strengths regarding OAR sparing.•Photon and proton treatment of sinonasal cancer is…”
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Dissociation and multiple ionization energies for five polycyclic aromatic hydrocarbon molecules by Holm, A I S, Johansson, H A B, Cederquist, H, Zettergren, H

“…We have performed density functional theory calculations for a range of neutral, singly, and multiply charged polycyclic aromatic hydrocarbons (PAHs), and…”
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Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets by HOLM, I. A, HUANG, X, KUNKEL, L. M

“…X-linked hypophosphatemic rickets (HYP) is a dominant disorder characterized by renal phosphate wasting and abnormal vitamin D metabolism. PEX, the gene that…”
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Ions colliding with cold polycyclic aromatic hydrocarbon clusters by Holm, A I S, Zettergren, H, Johansson, H A B, Seitz, F, Rosén, S, Schmidt, H T, Lawicki, A, Rangama, J, Rousseau, P, Capron, M, Maisonny, R, Adoui, L, Méry, A, Manil, B, Huber, B A, Cederquist, H

“…We report the first experimental study of ions interacting with clusters of polycyclic aromatic hydrocarbon (PAH) molecules. Collisions between 11.25 keV 3He+…”
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Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy by Wolfsdorf, J I, Holm, I A, Weinstein, D A

“…The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradation of glycogen. In the past decade,…”
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Air variability in maxillary sinus during radiotherapy for sinonasal carcinoma by Sharma, M.B., Argota Perez, R., Holm, A.I.S., Korreman, S.S., Jensen, K., Elstrøm, U.V., Grau, C.

“…•Air volume in the ipsilateral maxillary sinus varies substantially during a RT treatment course.•Aeration changes cannot be predicted from evaluation of…”
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Phosphate wasting in oncogenic osteomalacia: phex is normal and the tumor-derived factor has unique properties by Nelson, A.E, Hogan, J.J, Holm, I.A, Robinson, B.G, Mason, R.S

“…Oncogenic osteomalacia (OOM) is characterized by renal phosphate wasting and abnormal metabolism of vitamin D, somewhat similar to the phenotype of X-linked…”
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Hypervitaminosis D associated with drinking milk by Jacobus, C.H. (Beth Israel Hospital, Boston), Holick, M.F, Shao, Q, Chen, T.C, Holm, I.A, Kolodny, J.M, El-Hajj Fuleihan, G, Seely, E.W

“…Background. Vitamin D has been added to milk in the United States since the 1930s to prevent rickets. We report the unusual occurrence of eight cases of…”
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Electron capture induced dissociation of doubly protonated pentapeptides: dependence on molecular structure and charge separation by Haag, N, Holm, A I S, Johansson, H A B, Zettergren, H, Schmidt, H T, Brøndsted Nielsen, S, Hvelplund, P, Cederquist, H

“…We have studied electron capture induced dissociation of a set of doubly protonated pentapeptides, all composed of one lysine (K) and either four glycine (G)…”
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Oxidative phosphorylation defect associated with primary adrenal insufficiency by North, Kathryn, Korson, Mark S., Krawiecki, Nicolas, Shoffner, John M., Holm, Ingrid A.

“…An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and…”
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Ionization and fragmentation of polycyclic aromatic hydrocarbon clusters in collisions with keV ions by Johansson, H. A. B., Zettergren, H., Holm, A. I. S., Seitz, F., Schmidt, H. T., Rousseau, P., Ławicki, A., Capron, M., Domaracka, A., Lattouf, E., Maclot, S., Maisonny, R., Manil, B., Chesnel, J.-Y., Adoui, L., Huber, B. A., Cederquist, H.

“…We report on an experimental study of the ionization and fragmentation of clusters of k polycyclic aromatic hydrocarbon (PAH) molecules using anthracene,…”
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Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection by Holm, I A, McLaughlin, J F, Feldman, K, Stone, E F

“…Two children with multiple severe disabilities due to brain destruction by neonatal infection had recurrent hypothermia (less than 34 degrees C) with…”
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A clinician's guide to X‐linked hypophosphatemia by Carpenter, Thomas O, Imel, Erik A, Holm, Ingrid A, Jan de Beur, Suzanne M, Insogna, Karl L

“…X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and…”
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Low-energy ions interacting with anthracene molecules and clusters by Rousseau, P., Ławicki, A., Holm, A.I.S., Capron, M., Maisonny, R., Maclot, S., Lattouf, E., Johansson, H.A.B., Seitz, F., Méry, A., Rangama, J., Zettergren, H., Rosén, S., Schmidt, H.T., Chesnel, J.-Y., Domaracka, A., Manil, B., Adoui, L., Cederquist, H., Huber, B.A.

“…The interaction of slow ions (v∼0.4a.u.) with a small polycyclic aromatic hydrocarbon, namely anthracene (C14H10), is studied in the gas-phase either with the…”
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