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Tytuł :
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Autorzy :
Tremblay-Laganière C; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Nguyen TTM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's Hospital, University of London, London, UK.; Next Generation Genetic Polyclinic, Mashhad, Iran.
Kirmani S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
Akbar F; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
Ibrahim S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
Afroze B; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
Doosti M; Next Generation Genetic Polyclinic, Mashhad, Iran.
Ashrafzadeh F; Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.
Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Christoforou M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.
Ladda RL; Department of Pediatrics, Milton S Hershey Medical Centre, Hershey, PA, USA.
McLaughlin HM; Invitae Corporation, San Francisco, CA, USA.
Truty R; Invitae Corporation, San Francisco, CA, USA.
Mahida S; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Baranano K; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ismail FY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.
Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nagy A; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, AB, Canada.
Maki Y; Department of Chemistry, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Project Research Center for Fundamental Sciences, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.
Sachdev R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.
Macintosh R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.
Palmer EE; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.
Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.
Steinfeld R; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.; Institute for Neurogenomics Helmholtz Zentrum München, Neuherberg, Germany.
Wortmann SB; University Children's Hospital, Paracelsus Medical School, Salzburg, Austria.; Amalias Children's Hospital, RadboudUMC, Nijmegen, the Netherlands.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK.
Brady AF; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.
Stals KL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.
Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
Bernardo D; University of California San Francisco, Clinical Neurology, San Francisco, CA, UK.
Nugent K; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.
McLean SD; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.
Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.
Campeau PM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada. .
Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan. .; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun 10. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function.
Autorzy :
Scala, Marcello (AUTHOR)
Efthymiou, Stephanie (AUTHOR)
Sultan, Tipu (AUTHOR)
De Waele, Jolien (AUTHOR)
Panciroli, Marta (AUTHOR)
Salpietro, Vincenzo (AUTHOR)
Maroofian, Reza (AUTHOR)
Striano, Pasquale (AUTHOR)
Van Petegem, Filip (AUTHOR)
Houlden, Henry (AUTHOR)
Bosmans, Frank (AUTHOR)
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Źródło :
Epilepsia (Series 4). Jun2021, Vol. 62 Issue 6, pe82-e87. 6p.
Czasopismo naukowe
Tytuł :
Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Autorzy :
Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
Ullah A; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Bourinaris T; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kriouile Y; Unit of Neuropediatrics and Neurometabolism, Pediatric Department, Mohammed V University of Rabat, Morocco.
Sultan T; The Children's Hospital, Institute of Child Health, Islamabad, Pakistan.
Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan.
Salpietro V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kaukab Raja G; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
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Źródło :
Klinische Padiatrie [Klin Padiatr] 2021 May 10. Date of Electronic Publication: 2021 May 10.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Autorzy :
Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
Ullah A; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Bourinaris T; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kriouile Y; Unit of Neuropediatrics and Neurometabolism, Pediatric Department, Mohammed V University of Rabat, Morocco.
Sultan T; The Children's Hospital, Institute of Child Health, Islamabad, Pakistan.
Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan.
Salpietro V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kaukab Raja G; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
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Transliterated Title :
Tay-Sachs-Syndrom: zwei neue, seltene HEXA-Mutationen aus Pakistan und Marokko.
Źródło :
Klinische Padiatrie [Klin Padiatr] 2021 Apr 08. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Early-onset phenotype of bi-allelic GRN mutations.
Autorzy :
Neuray C; UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
Sultan T; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Alvi JR; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Franca MC; Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Campinas, Sao Paulo, Brazil.
Assmann B; Department of Paediatrics, Medizinische Universität Heidelberg, Germany.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Canafoglia L; Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rossi G; Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Santana I; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Macario MC; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Almeida MR; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Laboratory of Neurogenetics, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal.
Kamate M; Division of Pediatric Neurology, Department of Pediatrics, Kaher-University's J N Medical College, Belgaum, India.
Parikh S; Department of Mitochondrial Medicine and Neurogenetics, Cleveland Clinic, Cleveland, USA.
Elloumi HZ; GeneDx, Gaithersburg, MD, USA.
Murphy D; UCL Queen Square Institute of Neurology, University College London, London, UK.
Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK.
Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK.
Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.
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Źródło :
Brain : a journal of neurology [Brain] 2021 Mar 03; Vol. 144 (2), pp. e22.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Alleles ; Homozygote ; Mutation/genetics ; Phenotype
Raport
Tytuł :
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Autorzy :
Ghosh SG; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Lee S; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Fabunan R; Biology Department, San Diego State University, San Diego, CA, USA.
Chai G; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Abdel-Salam G; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
McEvoy-Venneri J; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Stanley V; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Patel A; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Ross D; Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Ding J; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA.
Jain M; Departments of Medicine and Pharmacology, University of California-San Diego, La Jolla, CA, USA.
Pan D; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany.
Lübbert P; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kammerer B; Centre for Integrative Signalling Analysis (CISA), University of Freiburg, Freiburg, Germany.
Wiedemann N; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; CIBSS Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.
Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Murphy D; Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, Queen Square, London, UK.
Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
Ibrahim K; Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Waters ER; Biology Department, San Diego State University, San Diego, CA, USA.
Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University, London, UK.; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.
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. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 524-533. Date of Electronic Publication: 2020 Nov 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
4-Hydroxyphenylpyruvate Dioxygenase*/genetics
Dioxygenases*
Animals ; Exons ; Mice ; Mice, Knockout ; Phenotype
Czasopismo naukowe
Tytuł :
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Autorzy :
Ghosh, Shereen G.Aff1, Aff2
Lee, SangmoonAff1, Aff2
Fabunan, Rudy
Chai, GuoliangAff1, Aff2
Zaki, Maha S.
Abdel-Salam, Ghada
Sultan, Tipu
Ben-Omran, Tawfeg
Alvi, Javeria Raza
McEvoy-Venneri, JenniferAff1, Aff2
Stanley, ValentinaAff1, Aff2
Patel, AakashAff1, Aff2
Ross, DanicaAff1, Aff2
Ding, Jeffrey
Jain, Mohit
Pan, Daqiang
Lübbert, Philipp
Kammerer, Bernd
Wiedemann, NilsAff9, Aff10
Verhoeven-Duif, Nanda M.
Jans, Judith J.
Murphy, David
Toosi, Mehran Beiraghi
Ashrafzadeh, Farah
Imannezhad, Shima
Karimiani, Ehsan GhayoorAff16, Aff17
Ibrahim, Khalid
Waters, Elizabeth R.
Maroofian, RezaAff19, Aff20
Gleeson, Joseph G.Aff1, Aff2
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):524-533
Czasopismo naukowe
Tytuł :
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Autorzy :
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
Dutra-Clarke M; Department of Pediatrics, Division of Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Reza Alvi J; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.
Christoforou M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
Tuyet Mai Nguyen T; Research Center, Saint Justine University Hospital Center, University of Montreal, Montreal, QC, Canada.
Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London, UK.
Vona B; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, Germany.
Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, Germany.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Guillen Sacoto MJ; GeneDx, Gaithersburg, MA, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo, Egypt.
Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Campeau PM; Research Center, Saint Justine University Hospital Center, University of Montreal, Montreal, QC, Canada.
Russell BE; Department of Pediatrics, Division of Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
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Źródło :
Epilepsia [Epilepsia] 2021 Feb; Vol. 62 (2), pp. e35-e41. Date of Electronic Publication: 2021 Jan 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Acyltransferases/*genetics
Developmental Disabilities/*genetics
GPI-Linked Proteins/*deficiency
Nervous System Malformations/*genetics
Spasms, Infantile/*genetics
Brain/abnormalities ; Brain/diagnostic imaging ; Child, Preschool ; Developmental Disabilities/physiopathology ; Facies ; Female ; Hearing Loss/genetics ; Hearing Loss/physiopathology ; Humans ; Infant ; Kidney/abnormalities ; Male ; Microcephaly/genetics ; Microcephaly/physiopathology ; Muscle Hypotonia/genetics ; Muscle Hypotonia/physiopathology ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/physiopathology ; Phenotype ; Spasms, Infantile/physiopathology ; Vision Disorders/genetics ; Vision Disorders/physiopathology
Czasopismo naukowe
Tytuł :
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
Autorzy :
De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Sarre A; Cardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland.
Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.
Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Putoux A; Service de Génétique, Hopital Femme Mere Enfant, Bron, France.
Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Raza Alvi J; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Ur Rahman Z; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Gleeson JG; Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA.
Murphy D; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of).
Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of).
Lesca G; Service de Genetique, Hospices Civils de Lyon, Lyon, France.
Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Service de Genetique, Hospices Civils de Lyon, Lyon, France.
Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Christoforou M; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Simonds WF; Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA.
Pedrazzini T; Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland.
Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland .
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Corporate Authors :
SYNAPS Study Group
Źródło :
Journal of medical genetics [J Med Genet] 2020 Nov 10. Date of Electronic Publication: 2020 Nov 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Three-dimensional assessment of the extraction sockets, augmented with platelet-rich fibrin and calcium sulfate: A clinical pilot study.
Autorzy :
Sultan T; Department of Restorative Dentistry, Faculty of Dentistry, University of Malaya, Kuala Lumpur, 50603, Malaysia. Electronic address: .
Cheah CW; Department of Restorative Dentistry, Faculty of Dentistry, University of Malaya, Kuala Lumpur, 50603, Malaysia. Electronic address: .
Ibrahim NB; Department of Oral & Maxillofacial Clinical Sciences, Faculty of Dentistry, University of Malaya, Kuala Lumpur, Malaysia.
Asif MK; Department of Oral & Maxillofacial Clinical Sciences, Faculty of Dentistry, University of Malaya, Kuala Lumpur, Malaysia.
Vaithilingam RD; Department of Restorative Dentistry, Faculty of Dentistry, University of Malaya, Kuala Lumpur, 50603, Malaysia.
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Źródło :
Journal of dentistry [J Dent] 2020 Oct; Vol. 101, pp. 103455. Date of Electronic Publication: 2020 Aug 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alveolar Bone Loss*/diagnostic imaging
Platelet-Rich Fibrin*
Calcium Sulfate ; Humans ; Pilot Projects ; Tooth Extraction ; Tooth Socket/diagnostic imaging ; Tooth Socket/surgery
Czasopismo naukowe
Tytuł :
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Autorzy :
Neuray C; UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK.
Scala M; UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Pai GS; Medical University of South Carolina, USA.
Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Genetic Center of Khorasan Razavi, Mashhad, Iran.
Khashab HE; Department of Pediatrics, Children's Hospital, Ain Shams University, Cairo, Egypt.; Department of Pediatrics, Dr. Suliman Al Habib Medical Group, Riyadh, Saudi Arabia.
deHoll L; Medical University of South Carolina, USA.
Yue W; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, UK.
Alsaif HS; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Zanetti MN; Department of Clinical and Experimental Epilepsy, University College London, London, UK.
Bello O; Department of Clinical and Experimental Epilepsy, University College London, London, UK.
Person R; GeneDx, Gaithersburg, MD, USA.
Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Khazaei Z; Genetic Center of Khorasan Razavi, Mashhad, Iran.
Feizabadi MH; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK.
El-Bassyouni HT; Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Soliman DR; Department of Pediatrics, Faculty of Medicine, Benha University, Benha, Egypt.
Tekes S; Dicle University, School of Medicine, Department of Medical Genetics, Diyarbakir, Turkey.
Ozer L; Yuksek Ihtisas University, School of Medicine, Department of Medical Genetics, Ankara, Turkey.
Baltaci V; Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
Khan S; CENTOGENE AG, Rostock.
Beetz C; CENTOGENE AG, Rostock.
Amr KS; Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Salpietro V; UCL Queen Square Institute of Neurology, University College London, London, UK.
Jamshidi Y; Molecular and Clinical Sciences Institute St George's, University of London, UK.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.
Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.
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Corporate Authors :
SYNaPS Study Group
Źródło :
Brain : a journal of neurology [Brain] 2020 Aug 01; Vol. 143 (8), pp. 2388-2397.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy/*genetics
Glutamate Decarboxylase/*genetics
Muscle Hypotonia/*genetics
Neurodevelopmental Disorders/*genetics
Abnormalities, Multiple/genetics ; Age of Onset ; Alleles ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.
Autorzy :
Azad B; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Efthymiou S; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: .
Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore 54600, Pakistan.
Scala M; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Alvi JR; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore 54600, Pakistan.
Neuray C; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
Dominik N; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Gul A; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan.
Houlden H; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
SYNaPS Study Group; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan.
Źródło :
Journal of the neurological sciences [J Neurol Sci] 2020 Jul 15; Vol. 414, pp. 116826. Date of Electronic Publication: 2020 Apr 07.
Typ publikacji :
Journal Article
MeSH Terms :
Lysosome-Associated Membrane Glycoproteins*/genetics
Neuronal Ceroid-Lipofuscinoses*/diagnostic imaging
Neuronal Ceroid-Lipofuscinoses*/genetics
Child ; Female ; Homozygote ; Humans ; Male ; Membrane Proteins/genetics ; Pakistan ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Autorzy :
Coulter ME; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Program in Neuroscience and Harvard/MIT MD-PHD Program, Harvard Medical School, Boston, MA, USA.
Musaev D; Department of Neurosciences and Howard Hughes Medical Institute, University of San Diego, La Jolla, CA, USA.
DeGennaro EM; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Zhang X; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Henke K; Division of Orthopedic Research, Boston Children's Hospital, Department of Genetics, Harvard Medical School, Boston, MA, USA.
James KN; Department of Neurosciences and Howard Hughes Medical Institute, University of San Diego, La Jolla, CA, USA.
Smith RS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Hill RS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Partlow JN; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Muna Al-Saffar; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Kamumbu AS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Hatem N; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Aziza J; Département de Pathologie, Institut Universitaire du Cancer de Toulouse-Oncopole-CHU Toulouse, Toulouse, France.
Chassaing N; Service de Génétique Médicale, CHU Toulouse, Toulouse, France.; UDEAR; UMR 1056 Inserm-Université de Toulouse, Toulouse, France.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Sultan T; Department of Pediatric Neurology, Institute of Child Health & The Children's Hospital, Lahore, Pakistan.
Burglen L; Centre de référence des malformations et maladies congénitales du cervelet, Département de génétique, AP-HP.Sorbonne Université, Paris, France.; Hôpital Trousseau and Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France.
Rajab A; National Genetics Center, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman.
Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Mochida GH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Harris MP; Division of Orthopedic Research, Boston Children's Hospital, Department of Genetics, Harvard Medical School, Boston, MA, USA.
Gleeson JG; Department of Neurosciences and Howard Hughes Medical Institute, University of San Diego, La Jolla, CA, USA. .
Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jun; Vol. 22 (6), pp. 1040-1050. Date of Electronic Publication: 2020 Feb 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Diseases*
Microcephaly*/genetics
Animals ; Cell Proliferation/genetics ; Homozygote ; Humans ; Mice ; Zebrafish/genetics
Czasopismo naukowe
Tytuł :
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Autorzy :
Coulter, Michael E.Aff1, Aff2
Musaev, Damir
DeGennaro, Ellen M.Aff1, Aff4
Zhang, XiaochangAff1, Aff5
Henke, Katrin
James, Kiely N.
Smith, Richard S.
Hill, R. Sean
Partlow, Jennifer N.
Muna Al-SaffarAff1, Aff7
Kamumbu, A. Stacy
Hatem, Nicole
Barkovich, A. James
Aziza, Jacqueline
Chassaing, NicolasAff10, Aff11
Zaki, Maha S.
Sultan, Tipu
Burglen, LydieAff14, Aff15
Rajab, Anna
Al-Gazali, Lihadh
Mochida, Ganeshwaran H.Aff1, Aff17
Harris, Matthew P.
Gleeson, Joseph G.Aff3, IDs4143602007589_cor23
Walsh, Christopher A.Aff1, IDs4143602007589_cor24
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):1040-1050
Czasopismo naukowe

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