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Wyszukujesz frazę ""Hamel, Christian"" wg kryterium: Autor

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    Wyświetlanie 1-13 z 13
    Tytuł:
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
    Autorzy:
    Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
    Mayer AK; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
    Strom TM; Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
    Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
    Glöckle N; CeGaT GmbH, Tuebingen, Germany.
    Schubach M; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany.
    Andreasson S; Department of Ophthalmology, Lund University, Lund, Sweden.
    Bernd A; University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
    Birch DG; The Retina Foundation of the Southwest, Dallas, Texas, United States of America.
    Hamel CP; Genetic Sensory Diseases, CHU de Montpellier, Montpellier, France.
    Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States of America.
    Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
    Kamme C; Department of Ophthalmology, Lund University, Lund, Sweden.
    Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.
    Kunstmann E; Institute of Human Genetics, Julius-Maximilian-University, Wuerzburg, Germany.
    Maffei P; Department of Medicine, University Hospital of Padua, Padua, Italy.
    Reiff CM; Eye Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
    Rohrschneider K; Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany.
    Rosenberg T; National Eye Clinic, Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.
    Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany.
    Vámos R; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
    Varsányi B; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Department of Ophthalmology, University of Pécs Medical School, Pécs, Hungary.
    Weleber RG; Casey Eye Institute, Oregon Retinal Degeneration Center, Oregon Health & Science University, Portland, Oregon, United States of America.
    Wissinger B; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
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    Źródło:
    PloS one [PLoS One] 2016 Jan 14; Vol. 11 (1), pp. e0145951. Date of Electronic Publication: 2016 Jan 14 (Print Publication: 2016).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Retinal Dystrophies/*genetics
    DNA Copy Number Variations ; Exome ; Eye Proteins/genetics ; Female ; Genetic Association Studies ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation Rate ; Pedigree ; Phenotype ; Retinal Dystrophies/diagnosis
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
    Autorzy:
    Perrault I; Department of Genetics, Institut National de la Santé et de la Recherche Médicale U, Université Paris Descartes-Sorbonne Paris Cité, France.
    Hanein S
    Zanlonghi X
    Serre V
    Nicouleau M
    Defoort-Delhemmes S
    Delphin N
    Fares-Taie L
    Gerber S
    Xerri O
    Edelson C
    Goldenberg A
    Duncombe A
    Le Meur G
    Hamel C
    Silva E
    Nitschke P
    Calvas P
    Munnich A
    Roche O
    Dollfus H
    Kaplan J
    Rozet JM
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    Źródło:
    Nature genetics [Nat Genet] 2012 Sep; Vol. 44 (9), pp. 975-7. Date of Electronic Publication: 2012 Jul 29.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*/physiology
    Leber Congenital Amaurosis/*genetics
    Macular Degeneration/*genetics
    Nicotinamide-Nucleotide Adenylyltransferase/*genetics
    Optic Atrophy/*genetics
    Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Cohort Studies ; Genetic Predisposition to Disease ; Humans ; Leber Congenital Amaurosis/complications ; Leber Congenital Amaurosis/epidemiology ; Macular Degeneration/complications ; Macular Degeneration/epidemiology ; Optic Atrophy/complications ; Optic Atrophy/epidemiology ; Polymorphism, Single Nucleotide/physiology ; Severity of Illness Index ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.
    Autorzy:
    Hebrard M; INSERM U 1051, Institute for Neurosciences of Montpellier, 80 rue Augustin Fliche, Montpellier Cedex 5, France.
    Manes G
    Bocquet B
    Meunier I
    Coustes-Chazalette D
    Hérald E
    Sénéchal A
    Bolland-Augé A
    Zelenika D
    Hamel CP
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Dec; Vol. 19 (12), pp. 1256-63. Date of Electronic Publication: 2011 Jul 27.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Chromosome Mapping*
    Mutation*
    Phenotype*
    Retinitis Pigmentosa/*genetics
    Adolescent ; Adult ; Base Sequence ; Child ; Child, Preschool ; Female ; Fundus Oculi ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Clinical utility gene card for: achromatopsia.
    Autorzy:
    Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany. />Hamel CP
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Jun; Vol. 19 (6). Date of Electronic Publication: 2011 Jan 26.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genes, Recessive*
    Mutation*
    Color Vision Defects/*diagnosis
    Genetic Diseases, X-Linked/*diagnosis
    Leber Congenital Amaurosis/*diagnosis
    Retinitis Pigmentosa/*diagnosis
    Age Factors ; Chromatography, High Pressure Liquid ; Color Vision Defects/congenital ; Color Vision Defects/epidemiology ; Color Vision Defects/genetics ; Cyclic Nucleotide Phosphodiesterases, Type 6/genetics ; Cyclic Nucleotide-Gated Cation Channels/genetics ; Diagnosis, Differential ; Electroretinography ; Eye Proteins/genetics ; Eyeglasses ; Gene Frequency ; Genetic Diseases, X-Linked/genetics ; Heterotrimeric GTP-Binding Proteins/genetics ; Humans ; Incidence ; Leber Congenital Amaurosis/genetics ; Predictive Value of Tests ; Retinitis Pigmentosa/genetics ; Risk Factors ; Sequence Analysis, DNA ; Vision Tests
    SCR Disease Name:
    Cone dystrophy, x-linked, with tapetal-like sheen
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Clinical utility gene card for: blue cone monochromatism.
    Autorzy:
    Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Opthalmology, University Tuebingen, Tuebingen, Germany. />Hamel CP
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Jun; Vol. 19 (6). Date of Electronic Publication: 2011 Jan 26.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Color Vision Defects/*diagnosis
    Genetic Diseases, X-Linked/*diagnosis
    Leber Congenital Amaurosis/*diagnosis
    Retinitis Pigmentosa/*diagnosis
    Rod Opsins/*genetics
    Age Factors ; Color Vision Defects/epidemiology ; Color Vision Defects/genetics ; Diagnosis, Differential ; Eyeglasses ; Female ; Gene Frequency ; Genetic Diseases, X-Linked/genetics ; Humans ; Incidence ; Leber Congenital Amaurosis/genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Predictive Value of Tests ; Retinitis Pigmentosa/genetics ; Risk Factors ; Sequence Analysis, DNA ; Sex Factors ; Vision Tests
    SCR Disease Name:
    Blue cone monochromatism; Cone dystrophy, x-linked, with tapetal-like sheen
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Novel mutations in MYO7A and USH2A in Usher syndrome.
    Autorzy:
    Maubaret C; INSERM U. 583, INM-Hôpital Saint Eloi, 80, rue Augustin Fliche, 34 295 Montpellier Cedex 5, France. />Griffoin JM
    Arnaud B
    Hamel C
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    Źródło:
    Ophthalmic genetics [Ophthalmic Genet] 2005 Mar; Vol. 26 (1), pp. 25-9.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Extracellular Matrix Proteins/*genetics
    Hearing Loss, Sensorineural/*genetics
    Mutation/*genetics
    Myosins/*genetics
    Retinitis Pigmentosa/*genetics
    Adolescent ; Adult ; Child ; DNA Mutational Analysis ; Dyneins ; Humans ; Middle Aged ; Myosin VIIa ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; RNA Splice Sites/genetics ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
    Autorzy:
    Faugère V; Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique IURC et CHU, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier cedex 5, France. />Tuffery-Giraud S
    Hamel C
    Claustres M
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    Źródło:
    BMC genetics [BMC Genet] 2003 Jan 07; Vol. 4, pp. 1. Date of Electronic Publication: 2003 Jan 07.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Computer Systems*
    Diagnostic Errors*
    Albinism, Ocular/*genetics
    Eye Proteins/*genetics
    Membrane Glycoproteins/*genetics
    Mutation/*genetics
    Nystagmus, Congenital/*diagnosis
    Polymerase Chain Reaction/*methods
    Adult ; Albinism, Ocular/diagnosis ; Child ; Chromosomes, Human, X/genetics ; Exons/genetics ; Female ; Gene Dosage ; Genetic Carrier Screening/methods ; Genetic Markers/genetics ; Humans ; Male ; Pedigree
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit.
    Autorzy:
    Manes, Gaël
    Cheguru, Pallavi
    Majumder, Anurima
    Bocquet, Béatrice
    Sénéchal, Audrey
    Artemyev, Nikolai O.
    Hamel, Christian P.
    Brabet, Philippe
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    Temat:
    PHOTORECEPTORS
    NIGHT blindness
    INTERFERONS
    BIOLOGICAL adaptation
    GENETIC mutation
    PHOSPHODIESTERASES
    CYCLIC guanylic acid
    Źródło:
    PLoS ONE; Apr2014, Vol. 9 Issue 4, p1-10, 10p
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-13 z 13

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