المؤلفون: Reilly, ML, ul Ain, N, Muurinen, M, Tata, A, Huber, C, Simon, M, Ishaq, T, Shaw, N, Rusanen, S, Pekkinen, M, Hogler, W, Knapen, MFCM, van den Born, M, Saunier, S, Naz, S, Cormier-Daire, V, Benmerah, A, Makitie, O

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(9):1642-1652

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150242960

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Kim C, Tang G, Pogue-Geile KL, Costantino JP, Baehner FL, Baker J, Cronin MT, Watson D, Shak S, Bohn OL, Fumagalli D, Taniyama Y, Lee A, Reilly ML, Vogel VG, McCaskill-Stevens W, Ford LG, Geyer CE Jr, Wickerham DL, Wolmark N

المصدر: Journal of Clinical Oncology; 11/1/2011, Vol. 29 Issue 31, p4160-4167, 8p

المؤلفون: Kemper NS; Department of Psychology, University at Albany, State University of New York., Reilly ML; New York State Office of Mental Health., Freeman NJ; New York State Office of Mental Health., Sandler JC; New York State Office of Mental Health.

المصدر: Law and human behavior [Law Hum Behav] 2024 Feb; Vol. 48 (1), pp. 67-82. Date of Electronic Publication: 2024 Jan 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Psychological Association Country of Publication: United States NLM ID: 7801255 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-661X (Electronic) Linking ISSN: 01477307 NLM ISO Abbreviation: Law Hum Behav Subsets: MEDLINE

مواضيع طبية MeSH: Criminals* , Sex Offenses* , Paraphilic Disorders*/diagnosis, Humans ; Sexual Behavior ; New York City

المؤلفون: Carretero-Rodriguez L; School of Life Sciences, University of Sussex, Brighton BN7 9QG, United Kingdom., Guðjónsdóttir R; School of Life Sciences, University of Sussex, Brighton BN7 9QG, United Kingdom., Poparic I; Department of Developmental Neurobiology, King's College London, London SE1 1UL, United Kingdom., Reilly ML; School of Life Sciences, University of Sussex, Brighton BN7 9QG, United Kingdom., Chol M; Department of Developmental Neurobiology, King's College London, London SE1 1UL, United Kingdom., Bianco IH; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, United Kingdom., Chiapello M; Cambridge Centre for Proteomics, Cambridge Systems Biology Centre, Department of Biochemistry, University of Cambridge, Cambridge CB2 1QR, United Kingdom., Feret R; Institute for Sustainable Plant Protection, National Research Council, 10135 Torino, Italy., Deery MJ; Institute for Sustainable Plant Protection, National Research Council, 10135 Torino, Italy., Guthrie S; School of Life Sciences, University of Sussex, Brighton BN7 9QG, United Kingdom s.guthrie@sussex.ac.uk.

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2021 Aug 04; Vol. 41 (31), pp. 6652-6672. Date of Electronic Publication: 2021 Jun 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Axon Guidance/*physiology , Chimerin 1/*metabolism , Motor Neurons/*metabolism , Nerve Tissue Proteins/*metabolism , Oculomotor Muscles/*innervation , Stathmin/*metabolism , Zebrafish Proteins/*metabolism, Animals ; Chimerin 1/genetics ; Duane Retraction Syndrome/genetics ; Eye Movements ; Signal Transduction/physiology ; Zebrafish

المؤلفون: Pejskova P; Department of Histology and Embryology, Masaryk University, Faculty of Medicine, Brno, Czech Republic., Reilly ML; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris University, Imagine Institute, Paris, France.; Paris Diderot University, Paris, France., Bino L; Department of Histology and Embryology, Masaryk University, Faculty of Medicine, Brno, Czech Republic., Bernatik O; Department of Histology and Embryology, Masaryk University, Faculty of Medicine, Brno, Czech Republic., Dolanska L; Department of Histology and Embryology, Masaryk University, Faculty of Medicine, Brno, Czech Republic., Ganji RS; Central European Institute of Technology, Brno, Czech Republic., Zdrahal Z; Central European Institute of Technology, Brno, Czech Republic., Benmerah A; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris University, Imagine Institute, Paris, France., Cajanek L; Department of Histology and Embryology, Masaryk University, Faculty of Medicine, Brno, Czech Republic.

المصدر: The Journal of cell biology [J Cell Biol] 2020 Jun 01; Vol. 219 (6).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Aurora Kinase A/*metabolism , Cell Cycle/*genetics , Cilia/*metabolism , Hedgehog Proteins/*metabolism , Kinesins/*metabolism , Oncogene Proteins/*metabolism, Adaptor Proteins, Signal Transducing/metabolism ; Aurora Kinase A/antagonists & inhibitors ; Aurora Kinase A/genetics ; Basal Bodies/metabolism ; Chromatography, Liquid ; Cilia/genetics ; Cilia/pathology ; HEK293 Cells ; Humans ; Interphase/physiology ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Kinesins/genetics ; Mitosis/genetics ; Oncogene Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; RNA Interference ; Signal Transduction/genetics ; Sodium Channels/metabolism ; Tandem Mass Spectrometry

المؤلفون: Thomas S; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France., Boutaud L; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France., Reilly ML; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.; Paris Diderot University, 75013, Paris, France., Benmerah A; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.

المصدر: Biology of the cell [Biol Cell] 2019 Sep; Vol. 111 (9), pp. 217-231. Date of Electronic Publication: 2019 Jun 17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8108529 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-322X (Electronic) Linking ISSN: 02484900 NLM ISO Abbreviation: Biol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Agenesis of Corpus Callosum/*embryology , Cerebellum/*abnormalities , Cilia/*pathology , Ciliopathies/*embryology , Hydrocephalus/*embryology , Nervous System Malformations/*embryology , Neural Tube Defects/*embryology, Animals ; Cerebellum/embryology ; Developmental Disabilities ; Hedgehog Proteins/metabolism ; Humans ; Mice ; Signal Transduction

SCR Disease Name: Cerebellar Hypoplasia

المؤلفون: Reilly ML; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, 75015, France.; Paris Diderot University, Paris, 75013, France., Benmerah A; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, 75015, France.

المصدر: Biology of the cell [Biol Cell] 2019 Apr; Vol. 111 (4), pp. 79-94. Date of Electronic Publication: 2019 Feb 15.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8108529 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-322X (Electronic) Linking ISSN: 02484900 NLM ISO Abbreviation: Biol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Cilia*/metabolism , Cilia*/pathology , Ciliopathies*/metabolism , Ciliopathies*/pathology , Kinesins*/classification , Kinesins*/metabolism , Kinesins*/physiology, Animals ; Biological Transport ; Humans

المؤلفون: Reilly ML; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.; Paris Diderot University, Department of Life Sciences, Paris, France., Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht University, JE Utrecht, Netherlands., Magry V; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Jeanpierre C; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Alves M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Paydar M; Institute for Research in Immunology and Cancer, Département de médecine, Université de Montréal, PO Box 6128, Station Centre-Ville, Montréal, QC, Canada., Hellinga J; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Delous M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Pouly D; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Failler M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Martinovic J; Unit of Fetal Pathology, Antoine Béclère Hospital, AP-HP, Clamart, France.; INSERM U-788, Génétique/Neurogénétique, 94270 Le Kremlin-Bicêtre, France., Loeuillet L; Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Leroy B; Service d'Anatomie et de Cytologie Pathologiques, Centre hospitalier intercommunal de Poissy, Saint Germain en Laye, France., Tantau J; Service d'Anatomie et de Cytologie Pathologiques, Centre hospitalier intercommunal de Poissy, Saint Germain en Laye, France., Roume J; Service de Génétique, Centre hospitalier intercommunal de Poissy, 78100 Saint Germain en Laye, France., Gregory-Evans CY; Department of Ophthalmology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Shan X; Department of Ophthalmology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Filges I; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital of Basel, University of Basel, Basel, Switzerland.; Department of Clinical Research, University Hospital of Basel, University of Basel, Basel, Switzerland.; Department of Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada., Allingham JS; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Kwok BH; Institute for Research in Immunology and Cancer, Département de médecine, Université de Montréal, PO Box 6128, Station Centre-Ville, Montréal, QC, Canada., Saunier S; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France., Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht University, 3512 JE Utrecht, Netherlands., Benmerah A; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France.

المصدر: Human molecular genetics [Hum Mol Genet] 2019 Mar 01; Vol. 28 (5), pp. 778-795.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Loss of Function Mutation*, Congenital Abnormalities/*genetics , Kidney/*abnormalities , Kidney Diseases/*congenital , Kinesins/*genetics , Microcephaly/*genetics , Oncogene Proteins/*genetics, Animals ; Congenital Abnormalities/metabolism ; Cytokinesis/genetics ; Disease Models, Animal ; Female ; Fluorescent Antibody Technique ; Genes, Lethal ; Genetic Loci ; Humans ; Kidney/metabolism ; Kidney Diseases/genetics ; Kidney Diseases/metabolism ; Kinesins/chemistry ; Kinesins/metabolism ; Male ; Microcephaly/metabolism ; Microcephaly/pathology ; Oncogene Proteins/chemistry ; Oncogene Proteins/metabolism ; Pedigree ; Phenotype ; Structure-Activity Relationship ; Zebrafish

SCR Disease Name: Hereditary renal agenesis

المؤلفون: Cavallin M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France., Bery A; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France., Maillard C; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Salomon LJ; Department of Obstetrics and Fetal Medicine APHP- Necker Enfants Malades University Hospital, Paris, France., Bole C; Genomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France., Reilly ML; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Inherited Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France; Paris Diderot University, 75013, Paris, France., Nitschké P; Bioinformatic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France., Boddaert N; Pediatric Radiology, APHP-Necker Enfants Malades University Hospital, Paris, France; Image- Institut Imagine, INSERM UMR1163, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France., Bahi-Buisson N; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence, Déficiences Intellectuelles de Causes Rares, APHP- Necker Enfants Malades University Hospital, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr.

المصدر: European journal of medical genetics [Eur J Med Genet] 2018 Dec; Vol. 61 (12), pp. 755-758. Date of Electronic Publication: 2018 Aug 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*genetics , Dwarfism/*genetics , Microcephaly/*genetics , Polymicrogyria/*genetics, Brain/diagnostic imaging ; Brain/pathology ; Cell Cycle Proteins ; Child ; Child, Preschool ; Consanguinity ; Databases, Genetic ; Dwarfism/diagnostic imaging ; Dwarfism/pathology ; Female ; Homozygote ; Humans ; Male ; Microcephaly/diagnostic imaging ; Microcephaly/pathology ; Morocco/epidemiology ; Mutation, Missense ; Pedigree ; Phenotype ; Polymicrogyria/diagnostic imaging ; Polymicrogyria/pathology