Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant by Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

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Involvement of Mitochondrial Dysfunction in <i>FOXG1</i> Syndrome by Victoria A. Bjerregaard, Amanda M. Levy, Mille S. Batz, Ravina Salehi, Mathis Hildonen, Trine B. Hammer, Rikke S. Møller, Claus Desler, Zeynep Tümer

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Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa by Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gry Gellert-Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum-Nielsen, Karen Grønskov

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Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C by Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

“…(Gly370Arg).Resource tableUnlabelled TableUnique stem cell line identifierKCi001-AAlternative name(s) of stem cell lineBBS1 Clone10InstitutionKennedy Center, RigshospitaletContact information of distributorLisbeth Birk Møller, Lisbeth.Birk.Moeller@regionh.dkType of cell lineInduced pluripotent stem cell line (iPSC)OriginHumanAdditional origin infoFemale, CaucasianCell sourceDermal fibroblastsClonalityClonalMethod of reprogrammingNucleofection with non-integrating episomal plasmids carrying OCT3/4, SOX2, KLF4, L-MYC, LIN28 and shP53Genetic modificationNAType of modificationNAAssociated diseaseAutosomal recessive Bardet-Biedl syndromeGene/locusBBS1, Chr11: g.66293652 T > G, p.…”
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Utilization of telemedicine to support caregivers of young children with ASD and their Part C service providers: a comparison of intervention outcomes across three models of servic... by Laura L. Corona, J. Alacia Stainbrook, Kathleen Simcoe, Liliana Wagner, Bethena Fowler, Amy S. Weitlauf, A. Pablo Juárez, Zachary Warren

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Gammaretroviral vector encoding a fluorescent marker to facilitate detection of reprogrammed human fibroblasts during iPSC generation by Narasimhachar Srinivasakumar, Michail Zaboikin, Andrew M. Tidball, Asad A. Aboud, M. Diana Neely, Kevin C. Ess, Aaron B. Bowman, Friedrich G. Schuening

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Neural Correlates of Amusia in Williams Syndrome by Miriam D. Lense, Nathan Dankner, Jennifer R. Pryweller, Tricia A. Thornton-Wells, Elisabeth M. Dykens

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Elevated Expression of <i>SLC6A4</i> Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome by Mathis Hildonen, Amanda M. Levy, Christina Dahl, Victoria A. Bjerregaard, Lisbeth Birk Møller, Per Guldberg, Nanette M. Debes, Zeynep Tümer

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Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders by Tina eSkjørringe, Tina eSkjørringe, Lisbeth Birk Møller, Torben eMoos

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High Resolution Analysis of <i>DMPK</i> Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1 by Astrid Rasmussen, Mathis Hildonen, John Vissing, Morten Duno, Zeynep Tümer, Ulf Birkedal

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Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome by Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M. Shivers, Christopher Daniell, Soo-Jeong Kim

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Postnatal and adult consequences of loss of huntingtin during development: Implications for Huntington's disease by Eduardo E. Arteaga-Bracho, Maria Gulinello, Michael L. Winchester, Nandini Pichamoorthy, Jenna R. Petronglo, Alicia D. Zambrano, Julio Inocencio, Chirstopher D. De Jesus, Joseph O. Louie, Solen Gokhan, Mark F. Mehler, Aldrin E. Molero

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Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin by Robert P. Carson, Dominic L. Van Nielen, Peggy A. Winzenburger, Kevin C. Ess

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(A)musicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music by Miriam eLense, Carolyn eShivers, Elisabeth eDykens

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Peer Mediated Theatrical Engagement for Improving Reciprocal Social Interaction in Autism Spectrum Disorder by Blythe A Corbett, Blythe A Corbett, Lydia R Qualls, Lydia R Qualls, Blythe eValencia, Stephanie M Fecteau, Stephanie M Fecteau, Deanna M Swain

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Factors That Optimize Engagement for Diverse Learners at Arts Performances for Young Audiences by Don Glass, Annie K. Schulz Begle, Jenelle M. Miller

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Striosome-matrix pathology and motor deficits in the YAC128 mouse model of Huntington's disease by Collene Lawhorn, Diane M. Smith, Lucy L. Brown

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease by Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller

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The Feasibility and Effectiveness of a Novel, On-Line Social Skills Intervention for Individuals With Prader-Willi Syndrome by Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Hailee Hunt-Hawkins, Charles McDonald

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Developmental sequelae and neurophysiologic substrates of sensory seeking in infant siblings of children with autism spectrum disorder by Cara R. Damiano-Goodwin, Tiffany G. Woynaroski, David M. Simon, Lisa V. Ibañez, Michael Murias, Anne Kirby, Cassandra R. Newsom, Mark T. Wallace, Wendy L. Stone, Carissa J. Cascio

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