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Wyszukujesz frazę ""Reich, Adi"" wg kryterium: Autor


Tytuł :
The Role of Matrix Gla Protein in Ossification and Recovery of the Avian Growth Plate
Autorzy :
Dan, Harel
Simsa-Maziel, Stav
Reich, Adi
Sela-Donenfeld, Dalit
Monsonego-Ornan, Efrat
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Temat :
BMP-2
chondrocytes
BMP2
thiram
tibial dyschondroplasia
RC648-665
MGP
Diseases of the endocrine glands. Clinical endocrinology
Original Research
nutritional and metabolic diseases
Endocrinology
Źródło :
Frontiers in Endocrinology, Vol 3 (2012)
Frontiers in Endocrinology
Tytuł :
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Autorzy :
Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. .
Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Reuter MS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA.
Ahmed SA; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
Rawson KL; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
Barr E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Li H; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Bruel AL; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.
Faivre L; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Centre de Génétique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» et FHU TRANSLAD, Hôpital D'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
Tran Mau-Them F; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.
Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
Burns K; Sanford Health, Sioux Falls, SD, USA.
Ward DI; Sanford Health, Sioux Falls, SD, USA.
Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Martinez-Agosto JA; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Nelson SF; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Zacher P; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Epilepsy Center Kleinwachau, Radeberg, Germany.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
McGaughran J; Genetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, St Lucia, Brisbane, Australia.
Kohlhase J; Synlab Human Genetics Freiburg, Freiburg, Germany.
Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Moran E; Clinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA.
Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.
Raas-Rothschild A; Sackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.; Institute of Rare Diseases, Edmond & Lily Safra Children Hospital, Tel Hashomer, Israel.
Sacoto MJG; GeneDx, Gaithersburg, MD, 20877, USA.
Henderson LB; GeneDx, Gaithersburg, MD, 20877, USA.
Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA.
Mullegama SV; GeneDx, Gaithersburg, MD, 20877, USA.
Zghal Elloumi H; GeneDx, Gaithersburg, MD, 20877, USA.
Reich A; GeneDx, Gaithersburg, MD, 20877, USA.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Wahl E; Division of Genetics, UBMD Pediatrics, Buffalo, NY, USA.
Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
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Corporate Authors :
UCLA California Center for Rare Disease
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 18; Vol. 16 (1), pp. 136. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cleft Lip*
Cleft Palate*
Intellectual Disability*/genetics
Microcephaly*
Neurodevelopmental Disorders*/genetics
Humans
Czasopismo naukowe
Tytuł :
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Autorzy :
Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Spinelli E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
McTague A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
Carss KJ; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
Bryant E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Reich A; GeneDx, Gaithersburg, MD 20877, USA.
Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia.
Pressler RM; Department of Clinical Neurophysiology, Great Ormond Street Hospital, London WC1N 3JH, UK; Clinical Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Simpson MA; Division of Genetics and Molecular Medicine, King's College, London WC2R 2LS, UK.
Debelle GD; Department of General Paediatrics, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Wassmer E; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
Sieciechowicz D; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Jan-Kamsteeg E; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, Netherlands.
Paciorkowski AR; Department of Neurology, Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.
King MD; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin DO1 YC67, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
Cross JH; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia; Florey Institute and Murdoch Institute of Neuroscience and Mental Health, Parkville, 3052, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, 3052, VIC, Australia.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany.
McCullagh G; Department of Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
Millichap JJ; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals, NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.
Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.
Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address: .
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Corporate Authors :
Deciphering Developmental Disorders Study; DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
UK10K Consortium; UK10K, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
NIHR BioResource; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 948-956. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Synaptic Transmission*
Calcium/*metabolism
Calcium Channels, N-Type/*genetics
Dyskinesias/*genetics
Epilepsy/*genetics
Adolescent ; Child ; Child, Preschool ; Dyskinesias/pathology ; Epilepsy/pathology ; Female ; Humans ; Infant ; Loss of Heterozygosity ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
Autorzy :
Reich A; Bone and Extracellular Matrix Branch (A.R., A.S.B., A.M.B., W.A.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Department of Diagnostic Radiology (S.C.H.), National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Physiology and Experimental Medicine Program (A.H.), Heart Center, Hospital for Sick Children, University of Toronto, Ontario, Canada M5S 3OA4; Division of Diagnostic Imaging (J.S.), Department of Pediatrics, and Division of Clinical and Metabolic Genetics (D.C.), Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8; and The Prenatal Diagnosis and Medical Genetics Program (D.C.), Department of Obstetrics and Gynecology, Mt Sinai Hospital, University of Toronto, Toronto, Ontario, Canada M5G 1Z5.
Bae AS
Barnes AM
Cabral WA
Hinek A
Stimec J
Hill SC
Chitayat D
Marini JC
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Feb; Vol. 100 (2), pp. E325-32. Date of Electronic Publication: 2014 Nov 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms :
Calcinosis/*pathology
Collagen Type I/*genetics
Membrane Proteins/*genetics
Osteoblasts/*pathology
Osteogenesis Imperfecta/*pathology
Adult ; Aged ; Calcinosis/genetics ; Calcinosis/metabolism ; Child, Preschool ; Collagen Type I/metabolism ; Female ; Humans ; Male ; Membrane Proteins/metabolism ; Middle Aged ; Mutation ; Osteoblasts/metabolism ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/metabolism ; Young Adult
Czasopismo naukowe

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