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Wyszukujesz frazę ""Mowat–Wilson syndrome"" wg kryterium: Temat

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Wyświetlanie 1-20 z 34
Tytuł:
Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.
Autorzy:
St Peter C; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA.
Hossain WA; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA.
Lovell S; Protein Structure Laboratory, University of Kansas, Lawrence, KS 66047, USA.
Rafi SK; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA.
Butler MG; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 29; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 29.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Repressor Proteins*/genetics
Intellectual Disability*/genetics
Hirschsprung Disease*
Microcephaly*
Facies*
Female ; Humans ; Child, Preschool ; Zinc Finger E-box Binding Homeobox 2/genetics ; Homeodomain Proteins/genetics ; Transcription Factors
SCR Disease Name:
Mowat-Wilson syndrome
Recenzja
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Autorzy:
Frith K; Sydney Children's Hospital, Randwick, NSW 2031, Australia.; School of Women's and Children's Health, UNSW Sydney, Sydney, NSW 2052, Australia.
Munier CML; The Kirby Institute for Infection and Immunity in Society, UNSW Sydney, Sydney, NSW 2052, Australia.
Hastings L; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Mowat D; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Seddiki N; INSERM U955 Eq16, Vaccine Research Institute and Université Paris Est Créteil, F-94010 Créteil, France.
Macintosh R; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Kelleher AD; The Kirby Institute for Infection and Immunity in Society, UNSW Sydney, Sydney, NSW 2052, Australia.; Centre for Applied Medical Research, St Vincent's Hospital, Darlinghurst, NSW 2010, Australia.
Gray P; Sydney Children's Hospital, Randwick, NSW 2031, Australia.; School of Women's and Children's Health, UNSW Sydney, Sydney, NSW 2052, Australia.
Zaunders JJ; The Kirby Institute for Infection and Immunity in Society, UNSW Sydney, Sydney, NSW 2052, Australia.; Centre for Applied Medical Research, St Vincent's Hospital, Darlinghurst, NSW 2010, Australia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 May 18; Vol. 22 (10). Date of Electronic Publication: 2021 May 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
CD8-Positive T-Lymphocytes/*immunology
Hirschsprung Disease/*immunology
Intellectual Disability/*immunology
Microcephaly/*immunology
Zinc Finger E-box Binding Homeobox 2/*immunology
Animals ; Case-Control Studies ; Child ; Child, Preschool ; Facies ; Female ; Gene Expression Profiling ; Haploinsufficiency ; Hirschsprung Disease/genetics ; Humans ; Immunity, Cellular ; Immunologic Memory/genetics ; Intellectual Disability/genetics ; Lymphocyte Activation/genetics ; Male ; Mice ; Mice, Knockout ; Microcephaly/genetics ; Mutation ; T-Lymphocyte Subsets/immunology ; Young Adult ; Zinc Finger E-box Binding Homeobox 2/deficiency ; Zinc Finger E-box Binding Homeobox 2/genetics
SCR Disease Name:
Mowat-Wilson syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
Autorzy:
Youqing Fu
Wanfang Xu
Qingming Wang
Yangyang Lin
Peiqing He
Yanhui Liu
Haiming Yuan
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Temat:
Mowat-Wilson syndrome
ZEB2
epilepsy
hirschsprung disease
happy demeanor
Genetics
QH426-470
Źródło:
Frontiers in Genetics, Vol 13 (2022)
Opis pliku:
electronic resource
Relacje:
https://www.frontiersin.org/articles/10.3389/fgene.2022.853183/full; https://doaj.org/toc/1664-8021
Dostęp URL:
https://doaj.org/article/5ff2400927254d0dac5a95e63c16bc11  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
Mowat-Wilson syndrome: growth charts.
Autorzy:
Ivanovski I; Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Viale Risorgimento, 80 42123, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Institut für Medizinische Genetik, Universität Zürich, Zürich, Switzerland.
Djuric O; Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Center for Environmental, Nutritional and Genetic Epidemiology (CREAGEN), Section of Public Health, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Broccoli S; Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Caraffi SG; Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Viale Risorgimento, 80 42123, Reggio Emilia, Italy.
Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
Avela K; Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
Bayat A; Institute for Regional Health Service, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Dianalund, Dianalund, Denmark.
Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Cocco I; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Cordelli DM; Child Neurology and Psychiatry Unit, Pediatric Department, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.
Di Pisa V; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Dupont Garcia J; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
Gastaldi R; UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genoa, Italy.
Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.
Guala A; SOC Pediatria, Ospedale Castelli, Verbania, Italy.
Hoei-Hansen C; Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Inaba M; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
Iodice A; Child Neurology and Psychiatry Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.
Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.; Skånes universitet sjukhus, Barnkliniken, Lund, Sweden.
Lazalde-Medina B; Biomedical Research Unit, Mexican Institute of Social Security, Durango, Mexico.
Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Otelli V; ATS Bergamo, Brembana Valley district, Bergamo, Italy.
Pantaleoni C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Piscopo C; U.O.S.C. Medical Genetics, A.O.R.N. 'A. Cardarelli', Naples, Italy.
Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.
Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.
Marín Reina P; Dismorphology and Reproductive Genetics, Neonatal Research Group, Health Research Institute Hospital La Fe, University & Polytechnic Hospital La Fe, Valencia, Spain.
Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.
Ricci E; Child Neurology and Psychiatry Unit, Pediatric Department, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Scarano E; Unit of Pediatrics, Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Simonte G; Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Viale Risorgimento, 80 42123, Reggio Emilia, Italy.; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy.
Smigiel R; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
Tanteles G; Clinical Genetics Clinic, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Tarani L; Department of Pediatrics, University 'La Sapienza,', Rome, Italy.
Trimouille A; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.
Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Schrier Vergano S; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Writzl K; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Savasta S; Pediatric Clinic, IRCCS Policlinico 'S. Matteo' Foundation, University of Pavia, Pavia, Italy.
Street ME; Division of Pediatric Endocrinology and Diabetology, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Iughetti L; Post-graduate School of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences of Mother, Children and Adults, Pediatric Unit, University of Modena and Reggio Emilia, Modena, Italy.
Bernasconi S; Microbiome Research Hub, University of Parma, Parma, Italy.
Giorgi Rossi P; Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Garavelli L; Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Viale Risorgimento, 80 42123, Reggio Emilia, Italy. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jun 15; Vol. 15 (1), pp. 151. Date of Electronic Publication: 2020 Jun 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hirschsprung Disease*/genetics
Intellectual Disability*/genetics
Microcephaly*/genetics
Child ; Facies ; Female ; Growth Charts ; Homeodomain Proteins ; Humans ; Infant ; Infant, Newborn ; Italy ; Male ; Repressor Proteins ; Zinc Finger E-box Binding Homeobox 2/genetics
SCR Disease Name:
Mowat-Wilson syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 34

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