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Wyświetlanie 1-20 z 21
Tytuł:
Changing prescribing practice for rapid tranquillization-a quality improvement project based on the Plan-Do-Study-Act method.
Autorzy:
Baandrup L; The Mental Health Services of the Capital Region in Denmark, Copenhagen University Hospital, Copenhagen, Denmark. .; Mental Health Centre Copenhagen, Tuborgvej 235, 2400, Copenhagen NV, Denmark. .
Dons AM; The Mental Health Services of the Capital Region in Denmark, Copenhagen University Hospital, Copenhagen, Denmark.
Bartholdy KV; The Mental Health Services of the Capital Region in Denmark, Copenhagen University Hospital, Copenhagen, Denmark.
Holm KO; The Mental Health Services of the Capital Region in Denmark, Copenhagen University Hospital, Copenhagen, Denmark.
Hageman I; The Mental Health Services of the Capital Region in Denmark, Copenhagen University Hospital, Copenhagen, Denmark.
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Źródło:
Social psychiatry and psychiatric epidemiology [Soc Psychiatry Psychiatr Epidemiol] 2023 Mar 21. Date of Electronic Publication: 2023 Mar 21.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, Building CTF, Room C-103, 214 Dickinson Street, San Diego, CA 92103-8467, USA.; Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA 92093-0830, USA.
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Źródło:
AIMS neuroscience [AIMS Neurosci] 2022 Apr 21; Vol. 9 (2), pp. 175-215. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Containing the spread of COVID-19 virus facing to its high mutation rate: approach to intervention using a nonspecific way of blocking its entry into the cells.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2022; Vol. 41 (8), pp. 778-814. Date of Electronic Publication: 2022 May 09.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*/virology
Mutation Rate*
SARS-CoV-2*/genetics
Virus Internalization*/drug effects
Angiotensin-Converting Enzyme 2/genetics ; Humans ; Protein Binding ; Receptors, Virus/genetics ; Receptors, Virus/metabolism ; Spike Glycoprotein, Coronavirus/genetics ; Spike Glycoprotein, Coronavirus/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, Building CTF, Room C-103, 214 Dickinson Street, San Diego, CA 92103-8467, USA.; Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA 92093-0830, USA.
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Źródło:
AIMS neuroscience [AIMS Neurosci] 2021 Oct 28; Vol. 8 (4), pp. 548-557. Date of Electronic Publication: 2021 Oct 28 (Print Publication: 2021).
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prevalence and risk factors for depressive symptoms in patients with neovascular age-related macular degeneration who present for anti-VEGF therapy.
Autorzy:
Vu KV; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Mitchell P; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Dharamdasani Detaram H; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Burlutsky G; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Liew G; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Gopinath B; Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e547-e554. Date of Electronic Publication: 2020 Sep 27.
Typ publikacji:
Journal Article
MeSH Terms:
Visual Acuity*
Activities of Daily Living/*psychology
Angiogenesis Inhibitors/*administration & dosage
Depression/*epidemiology
Macula Lutea/*diagnostic imaging
Vascular Endothelial Growth Factor A/*antagonists & inhibitors
Wet Macular Degeneration/*complications
Aged ; Australia/epidemiology ; Depression/etiology ; Depression/psychology ; Female ; Fluorescein Angiography/methods ; Follow-Up Studies ; Fundus Oculi ; Humans ; Intravitreal Injections ; Male ; Prevalence ; Retrospective Studies ; Risk Factors ; Surveys and Questionnaires ; Tomography, Optical Coherence/methods ; Wet Macular Degeneration/drug therapy ; Wet Macular Degeneration/psychology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Problems associated with antiviral drugs and vaccines development for COVID-19: approach to intervention using expression vectors via GPI anchor.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, CA, USA.; Department of Pediatrics, University of California, San Diego, School of Medicine, CA, USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2021; Vol. 40 (6), pp. 665-706. Date of Electronic Publication: 2021 May 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
COVID-19 Drug Treatment*
Antiviral Agents/*pharmacology
COVID-19/*prevention & control
COVID-19 Vaccines/*genetics
COVID-19 Vaccines/*immunology
Genetic Vectors/*genetics
Glycosylphosphatidylinositols/*metabolism
Antiviral Agents/therapeutic use ; COVID-19/genetics ; COVID-19/metabolism ; Gene Expression ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dietary antioxidants are associated with presence of intra- and sub-retinal fluid in neovascular age-related macular degeneration after 1 year.
Autorzy:
Dharamdasani Detaram H; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Liew G; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Russell J; Faculty of Social Sciences, School of Health and Society, University of Wollongong, Sydney, New South Wales, Australia.
Vu KV; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Burlutsky G; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Mitchell P; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Gopinath B; Centre for Vision Research, Department of Ophthalmology and The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2020 Nov; Vol. 98 (7), pp. e814-e819. Date of Electronic Publication: 2020 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Visual Acuity*
Antioxidants/*pharmacology
Subretinal Fluid/*metabolism
Wet Macular Degeneration/*therapy
Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Male ; Retinal Pigment Epithelium/pathology ; Retrospective Studies ; Time Factors ; Tomography, Optical Coherence/methods ; Wet Macular Degeneration/diagnosis ; Wet Macular Degeneration/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Improving Efficacy of Endoscopic Diagnosis of Early Gastric Cancer: Gaps to Overcome from the Real-World Practice in Vietnam.
Autorzy:
Quach DT; Department of Internal Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam.; Department of Gastroenterology, Gia Dinh People's Hospital, Ho Chi Minh City, Vietnam.
Ho QD; Department of Endoscopy, Cho Ray Hospital, Ho Chi Minh City, Vietnam.
Vu KV; Department of Endoscopy, 108 Central Hospital, Hanoi, Vietnam.
Vu KT; Department of Gastroenterology and Hepatology, Bach Mai Hospital, Hanoi, Vietnam.
Tran HV; Gastrointestinal Endoscopy Center, Hue University Hospital, Hue, Vietnam.
Le NQ; Department of Endoscopy, University Medical Center, Ho Chi Minh City, Vietnam.
Tran NN; Department of Endoscopy, Hue Central Hospital, Hue, Vietnam.
Duong TH; Department of Gastroenterology, Thai Nguyen General Hospital, Thai Nguyen, Vietnam.
Dinh MC; Department of Gastroenterology, Dong Nai General Hospital, Dong Nai, Vietnam.
Bo PK; Department of Gastroenterology, Can Tho Central General Hospital, Can Tho, Vietnam.
Nguyen XV; Department of Gastroenterology, Da Nang General Hospital, Da Nang, Vietnam.
Bui QN; Department of Gastroenterology, Gia Dinh People's Hospital, Ho Chi Minh City, Vietnam.
Tran CD; Department of Endoscopy and Functional Exploration, National Cancer Hospital, Hanoi, Vietnam.
Dao TT; Department of Gastroenterology and Hepatology, Bach Mai Hospital, Hanoi, Vietnam.
Duong HM; Department of Diagnostic Imaging, Saint Paul Hospital, Hanoi, Vietnam.
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Źródło:
BioMed research international [Biomed Res Int] 2020 Apr 26; Vol. 2020, pp. 7239075. Date of Electronic Publication: 2020 Apr 26 (Print Publication: 2020).
Typ publikacji:
Journal Article
MeSH Terms:
Early Detection of Cancer*
Endoscopy, Digestive System*
Image Enhancement*
Stomach Neoplasms/*diagnosis
Female ; Humans ; Male ; Middle Aged ; Stomach Neoplasms/epidemiology ; Vietnam/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.
Naviaux RK; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.; Department of Pathology, School of Medicine, University of California, San Diego, California, USA.
Nyhan WL; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2020; Vol. 39 (6), pp. 905-922. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji:
Journal Article
MeSH Terms:
Amyloid beta-Protein Precursor/*genetics
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*genetics
Lesch-Nyhan Syndrome/*metabolism
Amyloid beta-Protein Precursor/metabolism ; Epigenomics ; Gene Expression Regulation ; HEK293 Cells ; Humans ; Hypoxanthine Phosphoribosyltransferase/metabolism ; Mutation ; Purines/metabolism ; Reduced Folate Carrier Protein/genetics ; Reduced Folate Carrier Protein/metabolism ; Transfection
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
β-Amyloid precursor protein (APP) and the human diseases.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, Building CTF, Room C-103, 214 Dickinson Street, San Diego, CA 92103-8467, USA.; Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA 92093-0830, USA.
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Źródło:
AIMS neuroscience [AIMS Neurosci] 2019 Oct 29; Vol. 6 (4), pp. 273-281. Date of Electronic Publication: 2019 Oct 29 (Print Publication: 2019).
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Potential epigenomic co-management in rare diseases and epigenetic therapy.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.; b Department of Pediatrics, UC San Diego School of Medicine , La Jolla , CA , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2019; Vol. 38 (10), pp. 752-780. Date of Electronic Publication: 2019 May 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Epigenesis, Genetic*
Rare Diseases/*genetics
Rare Diseases/*therapy
Alternative Splicing ; Animals ; DNA Methylation ; Gene Expression Regulation ; Gene Silencing ; Histone Code ; Humans ; RNA Splicing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California, San Diego , CA , USA.; b Department of Pediatrics, School of Medicine , University of California, San Diego , CA , USA.
Naviaux RK; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California, San Diego , CA , USA.; b Department of Pediatrics, School of Medicine , University of California, San Diego , CA , USA.; c Department of Pathology, School of Medicine , University of California, San Diego , CA , USA.
Nyhan WL; b Department of Pediatrics, School of Medicine , University of California, San Diego , CA , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2017 Nov 02; Vol. 36 (11), pp. 704-711. Date of Electronic Publication: 2017 Nov 29.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*enzymology
Lesch-Nyhan Syndrome/*genetics
Base Sequence ; Child, Preschool ; Exons/genetics ; Female ; Humans ; Hypoxanthine Phosphoribosyltransferase/metabolism ; Male ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.
Silva S; c Child Neurology Service, Hospital de Ancud , Chiloé Island , Chile.
Troncoso M; d Child Neurology Service, Hospital San Borja Arriarán, Universidad de Chile , Santiago , Chile.
Naviaux RK; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.; e Department of Pathology , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.
Nyhan WL; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2017 Jul 03; Vol. 36 (7), pp. 452-462. Date of Electronic Publication: 2017 May 19.
Typ publikacji:
Journal Article
MeSH Terms:
Islands*
Mutation*
Pedigree*
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*enzymology
Lesch-Nyhan Syndrome/*genetics
Adolescent ; Adult ; Base Sequence ; Chile ; Exons/genetics ; Female ; Humans ; Male ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism , The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego, San Diego , CA , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
Leydiker K; c Division of Metabolic Disorders , Children's Hospital of Orange County , Orange , CA , USA.
Wang R; c Division of Metabolic Disorders , Children's Hospital of Orange County , Orange , CA , USA.
Abdenur J; c Division of Metabolic Disorders , Children's Hospital of Orange County , Orange , CA , USA.
Nyhan WL; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2017 May 04; Vol. 36 (5), pp. 317-327. Date of Electronic Publication: 2017 Jan 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Epigenesis, Genetic*
Mutation*
Amyloid beta-Protein Precursor/*genetics
Neurodevelopmental Disorders/*genetics
Amyloid beta-Protein Precursor/chemistry ; Base Sequence ; Child, Preschool ; Codon, Nonsense ; Consanguinity ; Exons ; Female ; Gene Deletion ; Humans ; Male ; Pedigree ; RNA, Messenger/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Autorzy:
Nguyen KV; a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
Naviaux RK; a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.; c Department of Pathology , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
Nyhan WL; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2017 Feb; Vol. 36 (2), pp. 151-157. Date of Electronic Publication: 2017 Jan 03.
Typ publikacji:
Journal Article
MeSH Terms:
Amino Acid Substitution*
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*genetics
Adult ; Alanine ; Child, Preschool ; Exons ; Female ; Glycine ; Heterozygote ; Humans ; Hypoxanthine Phosphoribosyltransferase/deficiency ; Infant ; Male ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Autorzy:
Nguyen KV; a Department of Medicine , Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego , California , USA.
Nyhan WL; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego , California , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2016 Aug 02; Vol. 35 (8), pp. 426-33. Date of Electronic Publication: 2016 Jul 05.
Typ publikacji:
Journal Article
MeSH Terms:
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*genetics
Adult ; Base Sequence ; DNA Mutational Analysis ; Genetic Association Studies ; Humans ; Lesch-Nyhan Syndrome/diagnosis ; Male ; Molecular Diagnostic Techniques ; Mutation, Missense ; Point Mutation ; Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism , The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California , San Diego , California , USA.
Nyhan WL
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2015; Vol. 34 (6), pp. 442-7.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
INDEL Mutation*
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*genetics
Cells, Cultured ; Family ; Female ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.
Autorzy:
Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego , San Diego , CA , USA.; b Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego , La Jolla , CA , USA.
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2015; Vol. 34 (10), pp. 674-90. Date of Electronic Publication: 2015 Sep 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epigenesis, Genetic*
Amyloid beta-Protein Precursor/*genetics
Lesch-Nyhan Syndrome/*genetics
Base Sequence ; Humans ; INDEL Mutation ; Lesch-Nyhan Syndrome/metabolism ; Male ; Molecular Sequence Data ; RNA Splicing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel mutations in the human HPRT gene.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, California 92103-8467, USA. />Nyhan WL
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2013; Vol. 32 (3), pp. 155-60.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*enzymology
Lesch-Nyhan Syndrome/*genetics
Base Sequence ; Humans ; Male ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Autorzy:
Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, San Diego, California 92103-8467, USA. />Naviaux RK
Paik KK
Nakayama T
Nyhan WL
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2012; Vol. 31 (8), pp. 616-29.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hypoxanthine Phosphoribosyltransferase/*genetics
Lesch-Nyhan Syndrome/*genetics
Aged ; Child, Preschool ; Family ; Gene Expression ; Genetic Association Studies ; Genotype ; Humans ; Hypoxanthine Phosphoribosyltransferase/metabolism ; Lesch-Nyhan Syndrome/metabolism ; Male ; Mutation ; Open Reading Frames ; Pedigree ; Phenotype ; RNA, Messenger/analysis ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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