Výsledky vyhledávání - "J, Mendelsohn"

Akademický článek

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Autor: Christian J. Hendriksz, Joseph Muenzer, Adeline Vanderver, Jonathan M. Davis, Barbara K. Burton, Nancy J. Mendelsohn, Nan Wang, Luying Pan, Arian Pano, Ann J. Barbier

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 103-106 (2015)

In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four cl

Externí odkaz: https://doaj.org/article/88b22d02839a4098a411f02b7d972091

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Genotype-phenotype correlation at codon 1740 ofSETD2

Publikováno v: American journal of medical genetics. Part A, 182(9), 2037-2048. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley

The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ac0597bd335d46119f3853d877b511
https://doi.org/10.1002/ajmg.a.61724

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Estimate of the Mass and Radial Profile of the Orphan-Chenab Stream's Dwarf-galaxy Progenitor Using MilkyWay@home

Autor: Eric J. Mendelsohn, Heidi Jo Newberg, Siddhartha Shelton, Lawrence M. Widrow, Jeffery M. Thompson, Carl J. Grillmair

We fit the mass and radial profile of the Orphan-Chenab Stream's (OCS) dwarf galaxy progenitor by using turnoff stars in the Sloan Digital Sky Survey (SDSS) and the Dark Energy Camera (DEC) to constrain N-body simulations of the OCS progenitor fallin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5c6633291289a1c30d7e392b211f8d
https://resolver.caltech.edu/CaltechAUTHORS:20220217-686729000

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The Aftermath of Syllogism. Aristotelian Logical Argument from Avicenna to Hegel

Autor: J. Mendelsohn

Publikováno v: History and Philosophy of Logic. 42:189-191

This volume brings together nine previously unpublished, historically focused papers covering syllogistic logic and the notion of the syllogism. The book’s purpose, according to the editors, is ‘to...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3b03b029e7df5f5abcd06d6470fbf23
https://doi.org/10.1080/01445340.2021.1892292

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Autor: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura

Publikováno v: Human Mutation. 41:299-315

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7
https://doi.org/10.1002/humu.23929

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Expanding the phenotype of Wiedemann-Steiner syndrome:Craniovertebral junction anomalies

Publikováno v: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859

Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding a lysine N-methyltransferase that mediates a histone methylation pattern specific for epige

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9b
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdf

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