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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Autor: Rawlins LE; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: L.Rawlins@exeter.ac.uk., Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cannon SJ; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Daana M; Child Development Center, Clalit health care services, Jerusalem., Zamani M; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Ghani S; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Khan N; Interdisciplinary Nanoscience Center, Gustav Wieds Vej 14, Aarhus University, Aarhus 8000, Denmark., Khan H; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Scardamaglia A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille., Khan SA; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Galehdari H; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Ahmad F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Rodriguez Cruz PM; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Centro Nacional de Análisis Genómico, Barcelona, Spain; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ndiaye M; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Diop AG; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Owrang D; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Alhashem AM; Department of Radiology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Obeid M; The American University of Beirut, Beirut, Lebanon., Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Lakki, Khyber Pakhtunkhwa, Pakistan; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beydoun A; The American University of Beirut, Beirut, Lebanon., Najjar M; The American University of Beirut, Beirut, Lebanon., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden., Zifarelli G; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Hakami WS; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Hashem AMA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Boustany RN; The American University of Beirut, Beirut, Lebanon., Burglen L; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France; Centre de Référence des Malformations et Maladies congénitales du cervelet et Département de génétique, Hôpital Trousseau, APHP, Sorbonne Université, 26 avenue du Dr A Netter 75012 Paris, France., Alavi S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Palindrome, Isfahan, Iran., Gunning AC; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Milh M; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille; Aix-Marseille Université, APHM, service de neurologie pédiatrique, Hôpital de la Timone-Enfants, Marseille., Salah S; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Khan J; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany; Department of Biology, Chemistry, Pharmacy, Freie Universita¨t Berlin, 14195 Berlin, Germany., Wright CF; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK., Elpeleg O; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Shabbir MI; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ebner M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany., Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: E.Baple@exeter.ac.uk., Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK. Electronic address: A.H.Crosby@exeter.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 20, pp. 101278. Date of Electronic Publication: 2024 Sep 20.

A Signature of Four Circulating microRNAs as Potential Biomarkers for Diagnosing Early-Stage Breast Cancer.

Autor: Itani MM; Department of Anatomy, Cell Biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Nassar FJ; Department of Internal Medicine, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Tfayli AH; Department of Internal Medicine, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Talhouk RS; Department of Biology, Faculty of Arts and Sciences, American University of Beirut, Beirut 1107 2020, Lebanon., Chamandi GK; Department of Anatomy, Cell Biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon.; Pathophysiology of Breast Cancer Team, INSERM U976, HIPI, Université de Paris, 75010 Paris, France., Itani ARS; Department of Anatomy, Cell Biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Makoukji J; Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Boustany RN; Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Hou L; Center of Global Oncology, Northwestern University, Chicago, IL 60611, USA., Zgheib NK; Department of Pharmacology and Toxicology, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon., Nasr RR; Department of Anatomy, Cell Biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 Jun 06; Vol. 22 (11). Date of Electronic Publication: 2021 Jun 06.

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.

Autor: Kourtian S; American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon.; Department of Biological and Environmental Sciences, Faculty of Science, Beirut Arab University, Lebanon., Soueid J; American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon., Makhoul NJ; American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon., Guisso DR; American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon., Chahrour M; Eugene McDermott Center for Human Growth and Development, Departments of Neuroscience and Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Boustany RN; American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon.; Biochemistry and Molecular Genetics, American university of Beirut, Lebanon.

Publikováno v: Scientific reports [Sci Rep] 2017 Mar 30; Vol. 7, pp. 45336. Date of Electronic Publication: 2017 Mar 30.

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

Autor: Boustany RN, Aprille JR, Halperin J, Levy H, DeLong GR

Publikováno v: Annals of neurology [Ann Neurol] 1983 Oct; Vol. 14 (4), pp. 462-70.