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Wyświetlanie 1-9 z 9
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 :
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Autorzy :
Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: .
van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.
Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
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.
Distel B; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.
Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
Lesca G; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
Sellars EA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
van Bon BWM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Waugh JL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Deardorff M; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
Bosanko KB; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
Johnson DS; Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Burton J; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.
Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Santani AB; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.
Nesbitt AI; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Helbig KL; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
Tang S; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Moog U; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Hinderhofer K; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany and Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
Lincoln S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Kusako BH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Lindenbaum P; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Charpentier E; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Cherot E; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Simonet T; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Hahn S; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.
Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
Schmitt S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Deb W; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.
Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Quinquis D; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, 67091 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France.
Rudolf G; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France; Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France.
Sanlaville D; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.
Parent P; CHRU Brest, Génétique médicale, 29609 Brest, France.
Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808 Université Poitiers, France.
Toutain A; CHU Tours, Service de Génétique, 2 Boulevard Tonnellé, 37044 Tours, France.
Sutton VR; Baylor Genetics, Houston, TX 77030, USA.
Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA 98105, USA.
Peart-Vissers LELM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Boisseau P; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Vincent M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Grabrucker AM; Department of Biological Sciences, University of Limerick, Limerick V94 T9PX, Ireland; Bernal Institute, University of Limerick, Limerick V94 T9PX, Ireland.
Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
Tan WH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.
Granzow M; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.
Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Pasquier L; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.
Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
State MW; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Kleefstra T; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.
Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Petrovski S; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.
Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; CRCINA, Inserm, Université d'Angers, Université de Nantes, 44000 Nantes, France.
Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.
Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address: .
Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.
Pokaż więcej
Corporate Authors :
Undiagnosed Diseases Network
GEM HUGO; Réseau de génétique et génomique médicale - Hôpitaux Universitaires du Grand Ouest, CHU Rennes, Service de Génétique Clinique, 35203 Rennes, France.
Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 768-788.
Typ publikacji :
Journal Article
MeSH Terms :
Calcium-Calmodulin-Dependent Protein Kinase Type 2/*genetics
Intellectual Disability/*genetics
Mutation/*genetics
Animals ; Brain/pathology ; Cell Line ; Exome/genetics ; Female ; Glutamic Acid/genetics ; HEK293 Cells ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Neurons/pathology ; Phosphorylation/genetics ; Signal Transduction/genetics
Czasopismo naukowe
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Autorzy :
O’Donnell-Luria, Anne
Pais, Lynn
Faundes, Víctor
Wood, Jordan
Sveden, Abigail
Luria, Victor
Abou Jamra, Rami
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice
Bianchini, Claudia
Bird, Lynne
Buchert, Rebecca
Carré, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Culliton, Lisa
Currò, Aurora
Demurger, Florence
Dowling, James
Duban-Bedu, Bénédicte
Dubourg, Christèle
Eiset, Saga Elise
Escobar, Luis
Ferrarini, Alessandra
Haack, Tobias
Hashim, Mona
Heide, Solveig
Helbig, Katherine
Helbig, Ingo
Heredia, Raul
Héron, Delphine
Isidor, Bertrand
Jonasson, Amy
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo H.B.
Marcelis, Carlo L.M.
Mark, Paul
Masruha, Marcelo
McLaughlin, Heather
McWalter, Kirsty
Melchinger, Esther
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Ramelli, Gian Paolo
Ramos, Luiza L.P.
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Rieß, Angelika
Sanchez-Valle, Amarilis
Sattar, Shifteh
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris
van der Linden, Helio
van Koningsbruggen, Silvana
Villard, Laurent
Vogel, Ida
Weber, Yvonne
Wentzensen, Ingrid
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Rodan, Lance
McRae, Jeremy
Clayton, Stephen
Fitzgerald, Tomas
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy
King, Daniel
Krishnappa, Netravathi
Mason, Laura
Singh, Tarjinder
Tivey, Adrian
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V.
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O’Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen
Wright, Caroline
Fitzpatrick, David
Barrett, Jeffrey
Hurles, Matthew
Pokaż więcej
Temat :
global developmental delay
epileptic encephalopathy
epilepsy
autism
KMT2E
H3K4 methylation
neurodevelopmental disorder
intellectual disability
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Tytuł :
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Autorzy :
Marini, Carla
Porro, Alessandro
Rastetter, Agnès
Dalle, Carine
Rivolta, Ilaria
Bauer, Daniel
Oegema, Renske
Nava, Caroline
Parrini, Elena
Mei, Davide
Mercer, Catherine
Dhamija, Radhika
Chambers, Chelsea
Coubes, Christine
Thevenon, Julien
Kuentz, Paul
Julia, Sophie
Pasquier, Laurent
Dubourg, Christèle
Carré, Wilfrid
Rosati, Anna
Melani, Federico
Pisano, Tiziana
Giardino, Maria
Innes, A Micheil
Alembik, Yves
Scheidecker, Sophie
Santos, Manuela
Figueiroa, Sonia
Garrido, Cristina
Fusco, Carlo
Frattini, Daniele
Spagnoli, Carlotta
Binda, Anna
Granata, Tiziana
Ragona, Francesca
Freri, Elena
Franceschetti, Silvana
Canafoglia, Laura
Castellotti, Barbara
Gellera, Cinzia
Milanesi, Raffaella
Mancardi, Maria Margherita
Clark, Damien
Kok, Fernando
Helbig, Katherine
Ichikawa, Shoji
Sadler, Laurie
Neupauerová, Jana
Laššuthová, Petra
Šterbová, Katalin
Laridon, Annick
Brilstra, Eva
Koeleman, Bobby
Lemke, Johannes
Zara, Federico
Striano, Pasquale
Soblet, Julie
Smits, Guillaume
Deconinck, Nicolas
Barbuti, Andrea
DiFrancesco, Dario
Leguern, Eric
Guerrini, Renzo
Santoro, Bina
Hamacher, Kay
Thiel, Gerhard
Moroni, Anna
Difrancesco, Jacopo
Depienne, Christel
Pokaż więcej
Temat :
epilepsy
intellectual disability
HCN1
clinical spectrum
ion channel
[SDV]Life Sciences [q-bio]
Źródło :
Brain - A Journal of Neurology
Brain - A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
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
Pokaż więcej
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 :
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Autorzy :
Kury, Sébastien
van Woerden, Geeske
Besnard, Thomas
Onori, Martina
Latypova, Xenia
Towne, Meghan
Cho, Megan
Prescott, Trine
Ploeg, Melissa
Sanders, Stephan
Stessman, Holly
Pujol, Aurora
Distel, Ben
Robak, Laurie
Bernstein, Jonathan
Denommé-Pichon, Anne-Sophie
Lesca, Gaetan
Sellars, Elizabeth
Berg, Jonathan
Carré, Wilfrid
Busk, Øyvind
van Bon, Bregje
Waugh, Jeff
Deardorff, Matthew
Hoganson, George
Bosanko, Katherine
Johnson, Diana
Dabir, Tabib
Holla, Øystein
Sarkar, Ajoy
Tveten, Kristian
De Bellescize, Julitta
Braathen, Geir
Terhal, Paulien
Grange, Dorothy
Van Haeringen, Arie
Lam, Christina
Mirzaa, Ghayda
Burton, Jennifer
Bhoj, Elizabeth
Douglas, Jessica
Santani, Avni
Nesbitt, Addie
Helbig, Katherine
Andrews, Marisa
Begtrup, Amber
Tang, Sha
van Gassen, Koen
Juusola, Jane
Foss, Kimberly
Enns, Gregory
Moog, Ute
Hinderhofer, Katrin
Paramasivam, Nagarajan
Lincoln, Sharyn
Kusako, Brandon
Lindenbaum, Pierre
Charpentier, Eric
Nowak, Catherine
Chérot, Elouan
Simonet, Thomas
Ruivenkamp, Claudia
Hahn, Sihoun
Brownstein, Catherine
Xia, Fan
Schmitt, Sébastien
Deb, Wallid
Bonneau, Dominique
Nizon, Mathilde
Quinquis, Delphine
Chelly, Jamel
Rudolf, Gabrielle
Sanlaville, Damien
Parent, Philippe
Gilbert-Dussardier, Brigitte
Toutain, Annick
Sutton, Vernon
Thies, Jenny
Peart-Vissers, Lisenka
Boisseau, Pierre
Vincent, Marie
Grabrucker, Andreas
Dubourg, Christèle
Network, Undiagnosed
Tan, Wen-Hann
Verbeek, Nienke
Granzow, Martin
Santen, Gijs
Shendure, Jay
Isidor, Bertrand
Pasquier, Laurent
Redon, Richard
Yang, Yaping
State, Matthew
Kleefstra, Tjitske
Cogné, Benjamin
HUGO, GEM
study, Deciphering
Petrovski, Slavé
Retterer, Kyle
Eichler, Evan
Rosenfeld, Jill
Agrawal, Pankaj
Bezieau, Stéphane
Odent, Sylvie
Elgersma, Ype
Mercier, Sandra
Pokaż więcej
Temat :
Animals
Brain
Calcium-Calmodulin-Dependent Protein Kinase Type 2
Cell Line
Exome
Female
Glutamic Acid
HEK293 Cells
Humans
Intellectual Disability
Male
Mice
Inbred C57BL
Mutation
Neurons
Phosphorylation
Signal Transduction
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101, pp.768-788
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