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Wyświetlanie 1-15 z 15
Tytuł :
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Autorzy :
Guissart, Claire
Latypova, Xenia
Rollier, Paul
Khan, Tahir
Stamberger, Hannah
McWalter, Kirsty
Cho, Megan
Kjaergaard, Susanne
Weckhuysen, Sarah
Lesca, Gaetan
Besnard, Thomas
Ounap, Katrin
Schema, Lynn
Chiocchetti, Andreas
McDonald, Marie
De Bellescize, Julitta
Vincent, Marie
Van Esch, Hilde
Sattler, Shannon
Forghani, Irman
Thiffault, Isabelle
Freitag, Christine
Barbouth, Deborah Sara
Cadieux-Dion, Maxime
Willaert, Rebecca
Guillen Sacoto, Maria
Safina, Nicole
Dubourg, Christèle
Grote, Lauren
Carré, Wilfrid
Saunders, Carol
Pajusalu, Sander
Farrow, Emily
Boland, Anne
Karlowicz, Danielle Hays
Deleuze, Jean-François
Wojcik, Monica
Pressman, Rena
Isidor, Bertrand
Vogels, Annick
Van Paesschen, Wim
Al-Gazali, Lihadh
Al Shamsi, Aisha Mohamed
Claustres, Mireille
Pujol, Aurora
Sanders, Stephan
Rivier, Francois
Leboucq, Nicolas
Cogné, Benjamin
Sasorith, Souphatta
Sanlaville, Damien
Retterer, Kyle
Odent, Sylvie
Katsanis, Nicholas
Bézieau, Stephane
Koenig, Michel
Davis, Erica
Pasquier, Laurent
Küry, Sébastien
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Temat :
cerebellar ataxia
neurodevelopmental disorder
dual molecular effects
epilepsy
RORA
intellectual disability
autistic features
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Tytuł :
Genetic counselor use of self-involving responses in a clinical setting: A qualitative investigation.
Autorzy :
Kashmola-Perez I; Maternal-Fetal Medicine, M Health Fairview, Minneapolis, MN, USA.
McCarthy Veach P; Department of Genetics, Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA.
Schema L; Division of Pediatric Genetics and Metabolism, M Health Fairview, Minneapolis, MN, USA.
Redlinger-Grosse K; Department of Genetics, Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA.
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Źródło :
Journal of genetic counseling [J Genet Couns] 2021 May 02. Date of Electronic Publication: 2021 May 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Autorzy :
Guissart C; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
Latypova X; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Rollier P; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France.
Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Stamberger H; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium.
McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Kjaergaard S; Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
Weckhuysen S; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium.
Lesca G; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
Besnard T; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia.
Schema L; University of Minnesota-Fairview, Minneapolis, MN 55454, USA.
Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany.
McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Sattler S; Carle Physician Group, Urbana, IL 61801, USA.
Forghani I; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA.
Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany.
Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Safina NP; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Grote L; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA.
Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia.
Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France.
Karlowicz DH; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France.
Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Pressman R; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Vogels A; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Van Paesschen W; Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates.
Al Shamsi AM; Department of Paediatrics, Tawam Hospital, PO Box 15258, Al-Ain, United Arab Emirates.
Claustres M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain, Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Rivier F; Department of Neuropaediatrics and CR Maladies Neuromusculaires, CHU Montpellier, PhyMedExp, INSERM, CNRS, University of Montpellier, Montpellier, France.
Leboucq N; Neuroradiologie, CHU de Montpellier, 34090 Montpellier, France.
Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Sasorith S; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
Sanlaville D; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.
Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Koenig M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: .
Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France.
Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 744-759. Date of Electronic Publication: 2018 Apr 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Dominant*
Autistic Disorder/*genetics
Cerebellar Ataxia/*genetics
Intellectual Disability/*genetics
Mutation, Missense/*genetics
Nuclear Receptor Subfamily 1, Group F, Member 1/*genetics
Adolescent ; Adult ; Aged, 80 and over ; Alleles ; Animals ; Autistic Disorder/complications ; Brain/pathology ; Cerebellar Ataxia/complications ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Disease Models, Animal ; Female ; Genetic Complementation Test ; Humans ; Intellectual Disability/complications ; Larva/genetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Purkinje Cells/metabolism ; Purkinje Cells/pathology ; Syndrome ; Zebrafish/genetics
Czasopismo naukowe
Tytuł :
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Autorzy :
Jarnes Utz JR; University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; University of Minnesota, Department of Pediatrics, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA; University of Minnesota, Department of Experimental and Clinical Pharmacology, College of Pharmacy, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USA. Electronic address: .
Kim S; University of Minnesota, College of Pharmacy, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA.
King K; University of Minnesota, Department of Pediatrics, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA.
Ziegler R; University of Minnesota, Department of Pediatrics, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA.
Schema L; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USA; University of Minnesota, Department of Pediatrics, Medical School, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA.
Redtree ES; Gene Therapy Center, University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA.
Whitley CB; University of Minnesota, Department of Experimental and Clinical Pharmacology, College of Pharmacy, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USA; University of Minnesota, College of Pharmacy, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; Gene Therapy Center, University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; University of Minnesota, Department of Pediatrics, Medical School, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA.
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2017 Jun; Vol. 121 (2), pp. 170-179. Date of Electronic Publication: 2017 Apr 29.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Gangliosidoses/*physiopathology
Gangliosidoses/*therapy
Gangliosidoses, GM2/*physiopathology
Gangliosidosis, GM1/*physiopathology
1-Deoxynojirimycin/adverse effects ; 1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; Diet, Ketogenic ; Disaccharidases/antagonists & inhibitors ; Female ; Gangliosidoses/complications ; Gangliosidoses, GM2/therapy ; Gangliosidosis, GM1/therapy ; Glycoside Hydrolase Inhibitors/adverse effects ; Glycoside Hydrolase Inhibitors/therapeutic use ; Humans ; Infant ; Male ; Prospective Studies ; Retrospective Studies
Czasopismo naukowe
    Wyświetlanie 1-15 z 15

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